PrenatalScreen® – ΕΛΕΓΧΟΣ 744 ΓΟΝΙΔΙΩΝ ΜΕ NGS

To PrenatalScreen®, ένα διαγνωστικό τεστ που αναπτύχθηκε από τον όμιλο GENOMA, επιτρέπει τη γενετική ανάλυση για περισσότερες από 1.000 γενετικές ασθένειες στο έμβρυο, συμπεριλαμβανομένων εκείνων που εντοπίζονται συχνότερα στον ελληνικό πληθυσμό, όπως η μεσογειακή αναιμία, η δρεπανοκυτταρική αναιμία, η κυστική ίνωση,  η νωτιαία μυϊκή ατροφία και η κληρονομική κώφωση.

Το PrenatalScreen® επιτρέπει στη μέλλουσα μητέρα να γνωρίζει, μέσα από την ανάλυση του εμβρυϊκού DNA, αν το έμβρυο που κυοφορεί πάσχει από κάποια γενετική ασθένεια.

Σκοπός του τεστ PrenatalScreen®

Το PrenatalScreen® βασίζεται στην ανάλυση του εμβρυϊκού DNA, το οποίο εξάγεται είτε από τα εμβρυϊκά κύτταρα του αμνιακού υγρού που λαμβάνονται μέσω της αμνιοπαρακέντησης, είτε από τις χοριακές λάχνες που λαμβάνονται από το CVS. Σκοπός του γενετικού ελέγχου είναι να ανιχνεύσει στο έμβρυο τυχόν γενετικές ασθένειες, συμπεριλαμβανομένων εκείνων που παρατηρούνται συχνότερα στον ελληνικό πληθυσμό. Τα γονίδια που αναλύονται επιλέχθηκαν με βάση τη συχνότητα των ασθενειών που προκαλούνται από μεταλλάξεις στα γονίδια αυτά, την βαρύτητα του κλινικού φαινοτύπου κατά τη γέννηση και την συσχέτισή τους με πιθανές παθογένειες, ακολουθώντας τις οδηγίες του Αμερικανικού Κολεγίου Ιατρικής Γενετικής (ACMG).

Σε ποιους απευθύνεται το τεστ PrenatalScreen®;

To PrenatalScreen® ενδείκνυται στις ακόλουθες περιπτώσεις:

  • Όταν υπάρχει προσωπικό ή οικογενειακό ιστορικό κληρονομικών γενετικών ασθενειών
  • Στις έγκυες που επιθυμούν να προσδιορίσουν τον κίνδυνο γέννησης παιδιού με γενετική διαταραχή
  • Στις έγκυες που περιμένουν παιδί, είτε μετά από φυσική σύλληψη, είτε μέσω της ιατρικά υποβοηθούμενης αναπαραγωγής (IVF)
  • Στις έγκυες που περιμένουν παιδί μετά από κάποιο κύκλο ιατρικώς υποβοηθούμενης αναπαραγωγής  κάνοντας χρήση δότη σπερματοζωαρίων ή δότριας ωαρίων

Πώς γίνεται το τεστ PrenatalScreen®;

Ο γενετικός έλεγχος PrenatalScreen® βασίζεται στη διακοιλιακή λήψη 15-20 ml αμνιακού υγρού υπό την καθοδήγηση υπερήχων, μεταξύ της 15ης και της 18ης εβδομάδας της κύησης. Το υγρό που συλλέγεται, φυγοκεντρείται για την απομόνωση των αμνιακών κυττάρων.  Εναλλακτικά, ο γενετικός έλεγχος βασίζεται στη λήψη 20 mg χοριακών λαχνών υπό την καθοδήγηση υπερήχων, μεταξύ της 11ης και της 13ης εβδομάδας της κύησης.  Από το συλλεγόμενο υλικό πραγματοποιείται διαχωρισμός του εμβρυϊκού ιστού από το μητρικό ιστό.

Ο γενετικός έλεγχος πραγματοποιείται με την απομόνωση DNA από τα εμβρυϊκά κύτταρα. Ακολουθεί ενίσχυση των κωδικοποιουσών περιοχών των γονιδίων με την τεχνική PCR. Στη συνέχεια, μέσω της  αλληλούχισης νέας γενιάς (Next Generation Sequencing, NGS) και του κατάλληλου εξοπλισμού της ILLUMINA αναλύεται η αλληλουχία 774 γονιδίων (εξώνια και παρακείμενες ιντρονικές περιοχές, ± 5 νουκλεοτίδια) με υψηλό βάθος ανάγνωσης.

Η ανάλυση των αποτελεσμάτων με τη χρήση προηγμένων προγραμμάτων βιοπληροφορικής προσδιορίζει την πιθανή παρουσία μεταλλάξεων στα υπό μελέτη γονίδια.

Ακρίβεια των αποτελεσμάτων του τεστ PrenatalScreen®

Οι τρέχουσες τεχνικές ανάλυσης της αλληλουχίας του DNA δίνουν αποτελέσματα με ακρίβεια μεγαλύτερη του 99%. Παρά το γεγονός ότι η συγκεκριμένη ανάλυση είναι πολύ ακριβής, θα πρέπει πάντα να λαμβάνονται υπόψη οι περιορισμοί της μεθόδου.

Είδος δείγματος: Κύτταρα αμνιακού υγρού ή χοριακών λαχνών

Χρόνος απάντησης: 3-4 εβδομάδες

ΑΣΘΕΝΕΙΑ ΟΜΙΜ ΓΟΝΙΔΙΟ
17-alpha-hydroxylase/17,20-lyase deficiency 202110 CYP17A1
17-beta-hydroxysteroid dehydrogenase X deficiency 300438 HSD17B10
3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810 HSD3B2
3-hydroxy-3-methylglutaric aciduria 246450 HMGCL
3-methylglutaconic aciduria type 1 250950 AUH
3-methylglutaconic aciduria type 3 (AR optic atrophy-3 or optic atrophy plus syndrome) 258501 OPA3
3-methylglutaconic aciduria, type V 610198 DNAJC19
46XY sex reversal 3 612965 NR5A1
4-hydroxybutyric aciduria 271980 ALDH5A1
ABCD syndrome 600501 EDNRB
Acampomelic campomelic dysplasia 114290 SOX9
Achalasia-addisonianism-alacrimia    syndrome 231550 AAAS
Achondrogenesis type 1B 600972 SLC26A2
Achondrogenesis, type IA 200600 TRIP11
Achondrogenesis, type II or hypochondrogenesis 200610 COL2A1
Achondroplasia 100800 FGFR3
Acyl-CoA dehydrogenase 9 deficiency 611126 ACAD9
Adenylosuccinase deficiency 103050 ADSL
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 CYP11B1
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 CYP11A1
Adrenoleukodystrophy 300100 ABCD1
Aicardi-Goutieres syndrome 2 610181 RNASEH2B
Aicardi-Goutieres syndrome 3 610329 RNASEH2C
Aicardi-Goutieres syndrome 4 610333 RNASEH2A
Aicardi-Goutieres syndrome 5 612952 SAMHD1
Aicardi-Goutieres syndrome 6 615010 ADAR
Alagille syndrome 118450 JAG1
Allan-Herndon-Dudley syndrome 300523 SLC16A2
Alpha-methylacyl-Coa Racemase deficiency 614307 AMACR
Alpha-thalassemia (HBA1) 604131 HBA1
Alpha-thalassemia (HBA2) 604131 HBA2
Alpha-thalassemia/mental retardation syndrome 301040 ATRX
Alport syndrome autosomal recessive (COL4A3) 203780 COL4A3
Alport syndrome autosomal recessive (COL4A4) 203780 COL4A4
Alport syndrome X-Linked 301050 COL4A5
Alström syndrome 203800 ALMS1
Aminoacylase 1 deficiency 609924 ACY1
Amish infantile epilepsy syndrome 609056 ST3GAL5
Anauxetic dysplasia 607095 RMRP
Angelman syndrome 105830 UBE3A
Antenatal Bartter syndrome type 1 601678 SLC12A1
Antenatal Bartter syndrome type 2 241200 KCNJ1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 POR
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 FGFR2
Apert syndrome 101200 FGFR2
Aplasia/hypoplasia of limbs and pelvis 276820 WNT7A
Apparent mineralocorticoid excess 218030 HSD11B2
Argininemia 207800 ARG1
Argininosuccinic aciduria 207900 ASL
Aromatic L-amino acid decarboxylase deficiency 608643 DDC
Arthrogryposis – renal dysfunction – cholestasis 208085 VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2 613404 VIPAR
Ataxia – oculomotor apraxia type 1 208920 APTX
Ataxia with vitamin E deficiency 277460 TTPA
Ataxia-oculomotor apraxia 4 616267 PNKP
Ataxia-telangiectasia 208900 ATM
Atelosteogenesis type II 256050 SLC26A2
Atrial septal defect 2 607941 GATA4
Atrial septal defect 4 611363 TBX20
Atrial septal defect 6 613087 TLL1
Atrial septal defect 7, with or without AV conduction defects 108900 NKX2-5
Atrial septal defect 8 614433 CITED2
Atrial septal defect 9 614475 GATA6
Atrioventricular septal defect 3 600309 GJA1
Atrioventricular septal defect 4 614430 GATA4
Atrioventricular septal defect 5 614474 GATA6
Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 CRELD1
Autosomal dominant Charcot-Marie-Tooth disease type 2K 607831 GDAP1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 607706 GDAP1
Autosomal recessive dopa-responsive dystonia 605407 TH
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 608340 GDAP1
Autosomal recessive limb-girdle muscular dystrophy type 2I 607155 FKRP
Autosomal recessive malignant osteopetrosis 1 259700 TCIRG1
Autosomal recessive malignant osteopetrosis 4 611490 CLCN7
Autosomal recessive polycystic kidney disease 263200 PKHD1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay 270550 SACS
Baraitser-Winter syndrome 2 614583 ACTG1
Bardet-Biedl syndrome 1 209900 BBS1
Bardet-Biedl syndrome 10 615987 BBS10
Bardet-Biedl syndrome 11 615988 TRIM32
Bardet-Biedl syndrome 13 615990 MKS1
Bardet-Biedl syndrome 16 615993 SDCCAG8
Bardet-Biedl syndrome 2 615981 BBS2
Bardet-Biedl syndrome 3 600151 ARL6
Bardet-Biedl syndrome 6 605231 MKKS
Bardet-Biedl syndrome 9 615986 BBS9 (PTHB1)
Bartter syndrome, type 4a 602522 BSND
Beare-Stevenson cutis gyrata syndrome 123790 FGFR2
Becker muscular dystrophy 300376 DMD
Beckwith-Wiedemann syndrome 130650 CDKN1C
Beckwith-Wiedemann syndrome 130650 NSD1
Bent bone dysplasia syndrome 614592 FGFR2
Bestrophinopathy, autosomal recessive 611809 BEST1
Beta-thalassemia 613985 HBB
Bifunctional enzyme deficiency 261515 HSD17B4
Biotinidase deficiency 253260 BTD
Bj?rnstad syndrome 262000 BCS1L
Bloom syndrome 210900 BLM
Borjeson-Forssman-Lehmann   syndrome 301900 PHF6
Brachiootic syndrome 3 608389 SIX1
Brachytelephalangic chondrodysplasia punctata 302950 ARSE
Brittle cornea syndrome 229200 ZNF469
Caffey disease 114000 COL1A1
Campomelic dysplasia 114290 SOX9
Campomelic dysplasia with autosomal sex reversal 114290 SOX9
Canavan disease 271900 ASPA
Carbamoylphosphate synthetase deficiency 237300 CPS1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 SCO2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119 COX15
Cardiofaciocutaneous syndrome 115150 BRAF
Cardiofaciocutaneous syndrome 2 615278 KRAS
Cardiofaciocutaneous syndrome 3 615279 MAP2K1
Cardiofaciocutaneous syndrome 4 615280 MAP2K2
Carnitine deficiency, systemic primary 212140 SLC22A5
Carnitine palmitoyl transferase 1A deficiency 255120 CPT1A
Carnitine palmitoyl transferase II deficiency, infantile form 600649 CPT2
Carnitine palmitoyl transferase II deficiency, neonatal form 608836 CPT2
Carnitine-acylcarnitine translocase deficiency 212138 SLC25A20
Carpenter syndrome 201000 RAB23
Cartilage-hair hypoplasia 250250 RMRP
Cataract – intellectual deficit – hypogonadism_ Martsolf syndrome 212720 RAB3GAP2
Cataract 40, X-linked 302200 NHS
CATSHL syndrome 610474 FGFR3
Cerebellar ataxia – intellectual deficit – dysequilibrium syndrome 224050 VLDLR
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome 609528 SNAP29
Cerebrotendinous xanthomatosis 213700 CYP27A1
Ceroid lipofuscinosis, neuronal, 1 256730 PPT1
Ceroid lipofuscinosis, neuronal, 10 610127 CTSD
Ceroid lipofuscinosis, neuronal, 2 204500 TPP1
Ceroid lipofuscinosis, neuronal, 7 610951 MFSD8
Charcot-Marie-Tooth disease, recessive intermediate C 615376 PLEKHG5
Charcot-Marie-Tooth disease, type 4A 214400 GDAP1
Charcot-Marie-Tooth disease, type 4B1 601382 MTMR2
Charcot-Marie-Tooth disease, type 4B2 604563 SBF2
Charcot-Marie-Tooth disease, type 4C 601596 SH3TC2
Charcot-Marie-Tooth disease, type 4D 601455 NDRG1
Charcot-Marie-Tooth disease, type 4F 614895 PRX
Charcot-Marie-Tooth disease, type 4H 609311 FGD4
Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 PRPS1
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 GJB1 (CX32)
CHARGE syndrome 214800 CHD7
CHARGE syndrome 214800 SEMA3E
Chediak-Higashi syndrome 214500 LYST
CHILD syndrome 308050 NSDHL
Chondrodysplasia punctata, rhizomelic, type 1 215100 PEX7
Chondrodysplasia, Blomstrand type 215045 PTH1R
Ciliary dyskinesia, primary, 1 244400 DNAI1
Ciliary dyskinesia, primary, 3 608644 DNAH5
Citrullinemia type I 215700 ASS1
CK syndrome 300831 NSDHL
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 201910 CYP21A2
Classic galactosemia 230400 GALT
Classical homocystinuria 236200 CBS
COACH syndrome 216360 CC2D2A
COACH syndrome 216360 RPGRIP1L
COACH syndrome 216360 TMEM67
Cockayne syndrome type A 216400 ERCC8
Cockayne syndrome type B 133540 ERCC6
Coenzyme Q10 deficiency, primary, 1 607426 COQ2
Coenzyme Q10 deficiency, primary, 2- Deafness – encephaloneuropathy – obesity – valvulopathy 614651 PDSS1
Coenzyme Q10 deficiency, primary, 3- Leigh syndrome with nefrotic syndrome 614652 PDSS2
Coenzyme Q10 deficiency, primary, 4 612016 ADCK3
Coenzyme Q10 deficiency, primary, 5 614654 COQ9
Coffin-Lowry syndrome 303600 RPS6KA3
COFS syndrome 1 214150 ERCC6
Cohen Syndrome type 1 216550 VPS13B
Combined immunodeficiency with skin granulomas (gene RAG1) 233650 RAG1
Combined immunodeficiency with skin granulomas (gene RAG2) 233650 RAG2
Combined oxidative phosphorylation defect type 2 610498 MRPS16
Combined oxidative phosphorylation defect type 5 611719 MRPS22
Combined oxidative phosphorylation deficiency 4 610678 TUFM
Combined oxidative phosphorylation deficiency 6 300816 AIFM1
Combined pituitary hormone deficiencies, genetic forms 262600 PROP1
Combined pituitary hormone deficiency with spine abnormalities 221750 LHX3
Combined SAP deficiency 611721 PSAP
Complete androgen insensitivity syndrome 300068 AR
Cone-rod dystrophy 13 608194 RPGRIP1
Cone-rod dystrophy 3 604116 ABCA4
Cone-rod dystrophy 6 601777 GUCY2D
Cone-rod retinal dystrophy-2 120970 CRX
Congenital bile acid synthesis defect type 4 214950 AMACR
Congenital disorder of glycosylation type Ia 212065 PMM2
Congenital disorder of glycosylation type Ib 602579 MPI
Congenital disorder of glycosylation type Ic 603147 ALG6
Congenital disorder of glycosylation type Ie 608799 DPM1
Congenital disorder of glycosylation type IIa 212066 MGAT2
Congenital disorder of glycosylation type IIc 266265 SLC35C1
Congenital disorder of glycosylation type IId 607091 B4GALT1
Congenital disorder of glycosylation type IIf 603585 SLC35A1
Congenital disorder of glycosylation type Ij 608093 DPAGT1
Congenital disorder of glycosylation type Ik 608540 ALG1
Congenital disorder of glycosylation, type Id 601110 ALG3
Congenital disorder of glycosylation, type If 609180 MPDU1
Congenital disorder of glycosylation, type Ig 607143 ALG12
Congenital disorder of glycosylation, type Ih 608104 ALG8
Congenital disorder of glycosylation, type Ii 607906 ALG2
Congenital disorder of glycosylation, type IIb 606056 MOGS
Congenital disorder of glycosylation, type IIe 608779 COG7
Congenital disorder of glycosylation, type IIg 611209 COG1
Congenital disorder of glycosylation, type IIh 611182 COG8
Congenital disorder of glycosylation, type IIi 613612 COG5
Congenital disorder of glycosylation, type IIj 613489 COG4
Congenital disorder of glycosylation, type IIj 613489 TMEM165
Congenital disorder of glycosylation, type IIl 614576 COG6
Congenital disorder of glycosylation, type Il 608776 ALG9
Congenital disorder of glycosylation, type Im 610768 DOLK (TMEM15)
Congenital disorder of glycosylation, type In 612015 RFT1
Congenital disorder of glycosylation, type Io 612937 DPM3
Congenital disorder of glycosylation, type Ip 613661 ALG11
Congenital disorder of glycosylation, type Iq 612379 SRD5A3
Congenital disorder of glycosylation, type Is 300884 ALG13
Congenital disorder of glycosylation, type It 614921 PGM1
Congenital heart defects, nonsyndromic, 1, X-linked 306955 ZIC3
Congenital lipoid adrenal hyperplasia 201710 STAR
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Diarrhea 4, malabsorptive, congenital 610370 NEUROG3
Congenital muscular dystrophy type 1A 607855 LAMA2
Congenital muscular dystrophy type 5B 606612 FKRP
Congenital myopathy with excess of muscle spindles 218040 HRAS
Conotruncal anomaly face syndrome 217095 TBX1
Conotruncal heart malformations, variable 217095 NKX2-5
Cornelia de Lange syndrome 1 122470 NIPBL
Cornelia de Lange syndrome 2 300590 SMC1A
Cornelia de Lange syndrome 3 610759 SMC3
Cornelia de Lange syndrome 4 614701 RAD21
Cornelia de Lange syndrome 5 300882 HDAC8
Corpus callosum agenesis – neuronopathy 218000 SLC12A6
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity- hydrocephalus syndrome 307000 L1CAM
Corpus callosum, agenesis of, with mental retardation 300472 IGBP1
Costello syndrome 218040 HRAS
Craniofacial-deafness-hand syndrome 122880 PAX3
Craniofacial-skeletal-dermatologic dysplasia- Pfeiffer syndrome 101600 FGFR2
Craniofrontonasal dysplasia 304110 EFNB1
Craniosynostosis, type 1 123100 TWIST1
Crouzon syndrome 123500 FGFR2
Crouzon syndrome with acanthosis nigricans 612247 FGFR3
Cutis laxa, autosomal recessive, type IIA 219200 ATP6V0A2
Cystic fibrosis; mucoviscidosis 219700 CFTR
Cystinosis 219800 CTNS
Danon disease 300257 LAMP2
Deafness, autosomal dominant 11 601317 MYO7A
Deafness, autosomal dominant 13 601868 COL11A2
Deafness, autosomal dominant 3B 612643 GJB6
Deafness, autosomal dominant type 1 124900 DIAPH1
Deafness, autosomal dominant type 12 601543 TECTA
Deafness, autosomal dominant type 15 602459 POU4F3
Deafness, autosomal dominant type 20 604717 ACTG1
Deafness, autosomal dominant type 22 606346 MYO6
Deafness, autosomal dominant type 23 605192 SIX1
Deafness, autosomal dominant type 25 605583 SLC17A8
Deafness, autosomal dominant type 28 608641 GRHL2
Deafness, autosomal dominant type 2A 600101 KCNQ4
Deafness, autosomal dominant type 2B 612644 GJB3
Deafness, autosomal dominant type 36 606705 TMC1
Deafness, autosomal dominant type 4 600652 MYH14
Deafness, autosomal dominant type 40 616357 CRYM
Deafness, autosomal dominant type 48 607841 MYO1A
Deafness, autosomal dominant type 5 600994 DFNA5
Deafness, autosomal dominant type 50 613074 MIR96
Deafness, autosomal dominant type 6 600965 WFS1
Deafness, autosomal dominant type 64 614152 DIABLO
Deafness, autosomal dominant type 9 601369 COCH
Deafness, autosomal recessive 12 601386 CDH23
Deafness, autosomal recessive 15 601869 GIPC3
Deafness, autosomal recessive 18A 602092 USH1C
Deafness, autosomal recessive 1A 220290 GJB2
Deafness, autosomal recessive 1B 612645 GJB6
Deafness, autosomal recessive 2 600060 MYO7A
Deafness, autosomal recessive 21 603629 TECTA
Deafness, autosomal recessive 22 607039 OTOA
Deafness, autosomal recessive 23 609533 PCDH15
Deafness, autosomal recessive 29 614035 CLDN14
Deafness, autosomal recessive 37 607821 MYO6
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 SLC26A4
Deafness, autosomal recessive 53 609706 COL11A2
Deafness, autosomal recessive 7 600974 TMC1
Deafness, autosomal recessive 9 601071 OTOF
Dent disease 2 300555 OCRL
Desmosterolosis 602398 DHCR24
Diarrhea 1, secretory chloride, congenital 214700 SLC26A3
Diarrhea 3, secretory sodium, congenital, syndromic 270420 SPINT2
Diarrhea 5, with tufting enteropathy, congenital 613217 EPCAM
Diastrophic dwarfism 222600 SLC26A2
DiGeorge syndrome 188400 TBX1
Dihydropyrimidine dehydrogenase deficiency 274270 DPYD
Donnai-Barrow syndrome 222448 LRP2
Double-outlet right ventricle 217095 CFC1
Double-outlet right ventricle 217095 GDF1
Duchenne muscular dystrophy 310200 DMD
Dyskeratosis congenita X-linked 305000 DKC1
Dystrophic epidermolysis bullosa pruriginosa 604129 COL7A1
Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291 IKBKG
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 IKBKG
Ehlers-Danlos syndrome type 6 (kyphoscoliotic type) 225400 PLOD1
Ehlers-Danlos syndrome, cardiac valvular form 225320 COL1A2
Ehlers-Danlos syndrome, classic type 130000 COL1A1
Ehlers-Danlos syndrome, classic type (COL5A1) 130000 COL5A1
Ehlers-Danlos syndrome, classic type (COL5A2) 130000 COL5A2
Ehlers-Danlos syndrome, type III (hypermobile type) 130020 COL3A1
Ehlers-Danlos syndrome, type IV (vascular type) 130050 COL3A1
Ehlers-Danlos syndrome, type VIIA 130060 COL1A1
Ehlers-Danlos syndrome, type VIIB 130060 COL1A2
Eiken syndrome 600002 PTH1R
Ellis-van Creveld syndrome 225500 EVC2
elocardiofacial syndrome 192430 TBX1
Encephalopathy, neonatal severe 300673 MECP2
Epidermolysis bullosa simplex with muscular dystrophy 226670 PLEC
Epidermolysis bullosa simplex with pyloric atresia 612138 PLEC
Epilepsy, progressive myoclonic 2A (Lafora) 254780 EPM2A
Epilepsy, progressive myoclonic 2B (Lafora) 254780 NHLRC1
Epilepsy, pyridoxine-dependent 266100 ALDH7A1
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 SYN1
Epileptic encephalopathy, early infantile, 1 308350 ARX
Epileptic encephalopathy, early infantile, 12 613722 PLCB1
Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3
Epileptic encephalopathy, early infantile, 2 300672 CDKL5
Epileptic encephalopathy, early infantile, 3 609304 SLC25A22
Epileptic encephalopathy, early infantile, 8 300607 ARHGEF9
Epileptic encephalopathy, early infantile, 9 300088 PCDH19
Epiphyseal dysplasia, multiple 1 132400 COMP
Epiphyseal dysplasia, multiple, with myopia and deafness 132450 COL2A1
Escobar syndrome 265000 CHRNG
Ethylmalonic encephalopathy 602473 ETHE1
Exudative vitreoretinopathy 2, X-linked 305390 NDP
Fabry disease 301500 GLA
Familial dysautonomia 223900 IKBKAP
Familial Mediterranean fever 249100 MEFV
Fanconi anemia complementation group C 227645 FANCC
Fanconi anemia, complementation group A 227650 FANCA
Fanconi anemia, complementation group B 300514 FANCB
Fanconi anemia, complementation group G 614082 FANCG
Fatal infantile lactic acidosis with methylmalonic aciduria 245400 SUCLG1
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 610505 TSFM
Fetal akinesia deformation sequence 208150 DOK7
Fetal akinesia deformation sequence 208150 RAPSN
Fetal Gaucher disease 608013 GBA
FG syndrome 4 300422 CASK
Fibrochondrogenesis 1 228520 COL11A1
Fibrochondrogenesis 2 614524 COL11A2
Fibular hypoplasia or aplasia – femoral bowing – oligodactyly 228930 WNT7A
Focal cortical dysplasia, Taylor balloon cell type 607341 TSC1
Fraser syndrome (gene FRAS1) 219000 FRAS1
Fraser syndrome (gene FREM2) 219000 FREM2
Free sialic acid storage disease, infantile form 269920 SLC17A5
French-Canadian type Leigh syndrome 220111 LRPPRC
Frontometaphyseal dysplasia 305620 FLNA
Fucosidosis 230000 FUCA1
Fumaric aciduria 606812 FH
Galactokinase deficiency with cataracts 230200 GALK1
Galactose epimerase deficiency 230350 GALE
Gaucher disease type 2 230900 GBA
Gaucher disease type 3 231000 GBA
Gaucher disease type 3C 231005 GBA
Geleophysic dysplasia 1 231050 ADAMTSL2
Generalized junctional epidermolysis bullosa, non-Herlitz type 226650 COL17A1
Glutaric acidemia type 2 231680 ETFA
Glutaric acidemia type 2 231680 ETFB
Glutaric acidemia type 2 231680 ETFDH
Glutaryl-CoA dehydrogenase deficiency 231670 GCDH
Glutathione synthetase deficiency with 5-oxoprolinuria 266130 GSS
Glycine encephalopathy 605899 AMT
Glycine encephalopathy 605899 GCSH
Glycine encephalopathy 605899 GLDC
Glycogen storage disease due to acid maltase deficiency 232300 GAA
Glycogen storage disease due to glucose-6-phosphatase deficiency type 1a 232200 G6PC
Glycogen storage disease due to glucose-6-phosphatase deficiency type b 232220 SLC37A4
Glycogen storage disease due to glucose-6-phosphatase deficiency type c 232240 SLC37A4
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 232500 GBE1
Glycogen storage disease due to glycogen debranching enzyme deficiency 232400 AGL
GM1 gangliosidosis type 1 230500 GLB1
GM1 gangliosidosis type 2 230600 GLB1
GM1 gangliosidosis type 3 230650 GLB1
GRACILE syndrome 603358 BCS1L
Greenberg dysplasia 215140 LBR
Griscelli disease type 1 214450 MYO5A
Griscelli disease type 2 607624 RAB27A
Guanidinoacetate methyltransferase deficiency 612736 GAMT
HARP syndrome 607236 PANK2
Hemochromatosis, type 2A 602390 HFE2/HJV
Hemochromatosis, type 2B 613313 HAMP
Hemoglobin H disease, nondeletional 613978 HBA2
Hemophagocytic lymphohistiocytosis, familial, 2 603553 PRF1
Hemophagocytic lymphohistiocytosis, familial, 3 608898 UNC13D
Hemophagocytic lymphohistiocytosis, familial, 4 603552 STX11
Hemophagocytic lymphohistiocytosis, familial, 5 613101 STXBP2
Hemophilia A 306700 F8
Hemophilia B 306900 F9
Hepatic venoocclusive disease with immunodeficiency 235550 SP110
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 609060 GFM1
Hereditary fructose intolerance 229600 ALDOB
Hermansky-Pudlak syndrome 1 203300 HPS1
Hermansky-Pudlak syndrome 2 608233 AP3B1
Hermansky-pudlak syndrome 9 614171 PLDN
Heterotaxy, visceral, 1, X-linked 306955 ZIC3
Heterotaxy, visceral, 5 270100 NODAL
Heterotopia, periventricular 300049 FLNA
Holocarboxylase synthetase deficiency 253270 HLCS
Holoprosencephaly-2 157170 SIX3
Holoprosencephaly-3 142945 SHH
Holoprosencephaly-5 609637 ZIC2
Holoprosencephaly-9 610829 GLI2
Holt-Oram syndrome 142900 TBX5
Homocystinuria due to MTHFR deficienc 236250 MTHFR
Hoyeraal-Hreidarsson syndrome 300240 DKC1
Hydrops fetalis, nonimmune (HBA1) 236750 HBA1
Hydrops fetalis, nonimmune (HBA2) 236750 HBA2
Hyperammonemia due to N-acetylglutamate synthetase deficiency 237310 NAGS
Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 DOCK8
Hyperornithinemia-hyperammonemia-homocitrullinuria 238970 SLC25A15
Hyperphenylalaninemia, BH4-deficient, A 261640 PTS
Hyperphenylalaninemia, BH4-deficient, C 261630 QDPR
Hyperphenylalaninemia, BH4-deficient, D 264070 PCBD1
Hypochondroplasia 146000 FGFR3
Hypogonadotropic hypogonadism 5 612370 CHD7
Hypomyelination – congenital cataract 610532 FAM126A
Hypoparathyroidism – intellectual deficit – dysmorphism syndrome 241410 TBCE
Hypophosphatemic rickets, AR 241520 DMP1
Hypophosphatemic rickets, autosomal recessive, 2 613312 ENPP1
Hypoplastic left heart syndrome 1 241550 GJA1
Hypoplastic left heart syndrome 2 614435 NKX2-5
Hypothryoidism, congenital, nongoitrous 4 275100 TSHB
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 218700 PAX8
Hypothyroidism, congenital, nongoitrous, 5 225250 NKX2-5
Hypothyroidism, congenital, nongoitrous, 6 614450 THRA
Ichthyosis follicularis – alopecia – photophobia 308205 MBTPS2
Ichthyosis, autosomal recessive 4B (harlequin) 242500 ABCA12
Ichthyosis, congenital, autosomal recessive 1 242300 TGM1
Ichthyosis, congenital, autosomal recessive 4A 601277 ABCA12
IMAGE syndrome 614732 CDKN1C
Immunodeficiency 17, CD3 gamma deficient 615607 CD3G
Immunodeficiency 18, SCID variant 615615 CD3E
Immunodeficiency 19 615617 CD3D
Immunodeficiency 27A, mycobacteriosis, AR 209950 IFNGR1
Immunodeficiency 28, mycobacteriosis 614889 IFNGR2
Immunodeficiency 33 300636 IKBKG
Immunodeficiency 35 611521 TYK2
Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 PNP
Immunodeficiency with hyper IgM, type 5 608106 UNG
Immunodeficiency with hyper-IgM, type 2 605258 AICDA
Immunodeficiency with hyper-IgM, type 3 606843 CD40
Immunodeficiency, common variable, 1 607594 ICOS
Immunodeficiency, X-linked 300853 MAGT1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860 DNMT3B
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 FOXP3
Incontinentia pigmenti 308300 IKBKG
Infantile bilateral striatal necrosis Striatonigral degeneration, infantile 271930 NUP62
Interleukin 1 receptor antagonist deficiency 612852 IL1RN
Isolated CoQ-cytochrome C reductase deficiency Mitochondrial complex III deficiency, nuclear type 1 124000 BCS1L
Isolated growth hormone deficiency type III 307200 BTK
Isovaleric acidemia 243500 IVD
Jeune syndrome 611263 IFT80
Johanson-Blizzard syndrome 243800 UBR1
Joubert syndrome 1 213300 INPP5E
Joubert syndrome 10 300804 OFD1
Joubert syndrome 15 614464 CEP41
Joubert syndrome 2 608091 TMEM216
Joubert syndrome 4 609583 NPHP1
Joubert syndrome 5 610188 CEP290
Joubert syndrome 6 610688 TMEM67
Joubert syndrome 7 611560 RPGRIP1L
Joubert syndrome 8 612291 ARL13B
Joubert syndrome 9 612285 CC2D2A
Joubert syndrome with ocular defect Joubert syndrome-3 608629 AHI1
Junctional epidermolysis bullosa – pyloric atresia 226730 ITGA6
Junctional epidermolysis bullosa – pyloric atresia 226730 ITGB4
Junctional epidermolysis bullosa, Herlitz type (gene LAMA3) 226700 LAMA3
Junctional epidermolysis bullosa, Herlitz type (gene LAMB3) 226700 LAMB3
Junctional epidermolysis bullosa, Herlitz type (gene LAMC2) 226700 LAMC2
Junctional epidermolysis bullosa, non Herlitz type (gene LAMA3) 226650 LAMA3
Junctional epidermolysis bullosa, non Herlitz type (gene LAMB3) 226650 LAMB3
Junctional epidermolysis bullosa, non Herlitz type (gene LAMC2) 226650 LAMC2
Junctional epidermolysis bullosa, non-Herlitz type 226650 ITGB4
Juvenile neuronal ceroid lipofuscinosis 3 204200 CLN3
Kabuki syndrome 1 147920 MLL2 (KMT2D)
Kabuki syndrome 2 300867 KDM6A
Kahrizi syndrome 612713 SRD5A3
Kelley-Seegmiller syndrome 300323 HPRT1
Ketoacidosis due to beta-ketothiolase deficiency 203750 ACAT1
Kniest dysplasia 156550 COL2A1
Krabbe disease 245200 GALC
Krabbe disease, atypical 611722 PSAP
Lacticacidemia due to PDX1 deficiency 245349 PDHX
Late infantile neuronal ceroid lipofuscinosis 5 256731 CLN5
Late infantile neuronal ceroid lipofuscinosis 6 601780 CLN6
Late infantile neuronal ceroid lipofuscinosis 8 600143 CLN8
Lathosterolosis 607330 SC5DL
Leber congenital amaurosis 1 204000 GUCY2D
Leber congenital amaurosis 10 611755 CEP290
Leber congenital amaurosis 11 613837 IMPDH1
Leber congenital amaurosis 13 612712 RDH12
Leber congenital amaurosis 2 204100 RPE65
Leber congenital amaurosis 4 604393 AIPL1
Leber congenital amaurosis 6 613826 RPGRIP1
Leber congenital amaurosis 7 613829 CRX
Leber congenital amaurosis 8 613835 CRB1
Leber congenital amaurosis 9 608553 NMNAT1
Leigh syndrome 256000 BCS1L
Leigh syndrome 256000 NDUFA12
Leigh syndrome 256000 NDUFA2
Leigh syndrome 256000 NDUFA9
Leigh syndrome 256000 NDUFAF2
Leigh syndrome 256000 NDUFAF6
Leigh syndrome 256000 NDUFS4
Leigh syndrome 256000 NDUFS7
Leigh syndrome due to cytochrome c oxidase deficiency 256000 COX15
Leigh syndrome due to mitochondrial complex I deficiency 256000 FOXRED1
Leigh syndrome due to mitochondrial complex I deficiency 256000 NDUFS3
Leigh syndrome due to mitochondrial complex I deficiency 256000 NDUFS8
Leigh syndrome due to mitochondrial COX4 deficiency 256000 COX10
Leigh syndrome, due to COX deficiency 256000 SURF1
LEOPARD syndrome 1 151100 PTPN11
LEOPARD syndrome 2 611554 RAF1
LEOPARD syndrome 3 613707 BRAF
Lesch-Nyhan syndrome 300322 HPRT1
Lethal ataxia with deafness and optic atrophy 301835 PRPS1
Lethal congenital contractural syndrome 2 607598 ERBB3
Lethal congenital contracture syndrome type 1 253310 GLE1
Lethal osteosclerotic bone dysplasia 259775 FAM20C
Leukocyte adhesion deficiency, type III 612840 FERMT3
Leukodystrophy, hypomyelinating, 11 616494 POLR1C
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 POLR3A
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 611105 DARS2
Limb girdle dystrophy with epidermolysis bullosa simplex 613723 PLEC
Lissencephaly 1 607432 PAFAH1B1
Lissencephaly 2, Norman-Roberts type 257320 RELN
Lissencephaly 3 611603 TUBA1A
Lissencephaly 5 615191 LAMB1
Lissencephaly, X-linked 300067 DCX
Lissencephaly, X-linked 2 300215 ARX
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 609016 HADH
Mandibuloacral dysplasia with type B lipodystrophy 608612 ZMPSTE24
Mannosidosis, alpha-, types I and II 248500 MAN2B1
Maple syrup urine disease type III Dihydrolipoamide dehydrogenase deficiency 246900 DLD
Maple syrup urine disease, type Ia 248600 BCKDHA
Maple syrup urine disease, type Ib 248600 BCKDHB
Maple syrup urine disease, type II 248600 DBT
Marinesco-Sjögren syndrome 248800 SIL1
Marshall syndrome 154780 COL11A1
Masa syndrome 303350 L1CAM
Meckel syndrome 2 603194 TMEM216
Meckel syndrome 3 607361 TMEM67
Meckel syndrome 4 611134 CEP290
Meckel syndrome 6 612284 CC2D2A
Meckel syndrome 7 267010 NPHP3
Meckel syndrome type 1 249000 MKS1
Meckel syndrome, type 5 611561 RPGRIP1L
Medium chain acyl-CoA dehydrogenase deficiency 201450 ACADM
Megalencephalic leukoencephalopathy with subcortical cysts 604004 MLC1
Melnick-Needles syndrome 309350 FLNA
Menkes disease 309400 ATP7A
Mental retardation and microcephaly and cerebellar hypoplasia 300749 CASK
Mental retardation syndrome, X-linked, Siderius type 300263 PHF8
Mental retardation, autosomal dominant type 1 156200 MBD5
Mental retardation, autosomal dominant type 12 614562 ARID1B
Mental retardation, autosomal dominant type 14 614607 ARID1A
Mental retardation, autosomal dominant type 15 614608 SMARCB1
Mental retardation, autosomal dominant type 16 614609 SMARCA4
Mental retardation, autosomal dominant type 20 613443 MEF2C
Mental retardation, autosomal dominant type 5 612621 SYNGAP1
Mental retardation, autosomal dominant type 6 613970 GRIN2B
Mental retardation, autosomal dominant type 9 614255 KIF1A
Mental retardation, autosomal recessive 1 249500 PRSS12
Mental retardation, autosomal recessive 12 611090 ST3GAL3
Mental retardation, autosomal recessive 13 613192 TRAPPC9
Mental retardation, autosomal recessive 15 614202 MAN1B1
Mental retardation, autosomal recessive 18 614249 MED23
Mental retardation, autosomal recessive 2 607417 CRBN
Mental retardation, autosomal recessive 3 608443 CC2D1A
Mental retardation, autosomal recessive 34 614499 CRADD
Mental retardation, autosomal recessive 39 615541 TTI2
Mental retardation, autosomal recessive 46 616116 NDST1
Mental retardation, autosomal recessive 47 616193 FMN2
Mental retardation, autosomal recessive 5 611091 NSUN2
Mental retardation, autosomal recessive 7 611093 TUSC3
Mental retardation, autosomal recessive, 6 611092 GRIK2
Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156 INPP5E
Mental retardation, with or without nystagmus-FG syndrome 4 300422 CASK
Mental retardation, X-linked 1 309530 IQSEC2
Mental retardation, X-linked 19 300844 RPS6KA3
Mental retardation, X-linked 21/34 300143 IL1RAPL1
Mental retardation, X-linked 29 and others 300419 ARX
Mental retardation, X-linked 30/47 300558 PAK3
Mental retardation, X-linked 41 300849 GDI1
Mental retardation, X-linked 45 300498 ZNF81
Mental retardation, X-linked 46 300436 ARHGEF6
Mental retardation, X-linked 58 300210 TSPAN7
Mental retardation, X-linked 63 300387 ACSL4
Mental retardation, X-linked 72 300271 RAB39B
Mental retardation, X-linked 9 309549 FTSJ1
Mental retardation, X-linked 91 300577 ZDHHC15
Mental retardation, X-linked 93 300659 BRWD3
Mental retardation, X-linked 94 300699 GRIA3
Mental retardation, X-linked 96 300802 SYP
Mental retardation, X-linked 97 300803 ZNF711
Mental retardation, X-linked 98 300912 KIAA2022
Mental retardation, X-linked 99 300919 USP9X
Mental retardation, X-linked syndromic 5 304340 AP1S2
Mental retardation, X-linked syndromic, Christianson type 300243 SLC9A6
Mental retardation, X-linked syndromic, Lubs type 300260 MECP2
Mental retardation, X-linked syndromic, Nascimento-type 300860 UBE2A
Mental retardation, X-linked syndromic, Raymond type 300799 ZDHHC9
Mental retardation, X-linked syndromic, Turner type 300706 HUWE1
Mental retardation, X-linked, Snyder-Robinson type 309583 SMS
Mental retardation, X-linked, syndromic 13 300055 MECP2
Mental retardation, X-linked, syndromic 14 300676 UPF3B
Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354 CUL4B
Mental retardation, X-linked, syndromic, Claes-Jensen type 300534 KDM5C
Mental retardation, X-linked, syndromic, Hedera type 300423 ATP6AP2
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486 OPHN1
Mental retardation-hypotonic facies syndrome, X-linked 309580 ATRX
Metachromatic leukodystrophy 250100 ARSA
Metachromatic leukodystrophy due to SAP-b deficiency 249900 PSAP
Metaphyseal chondrodysplasia, Murk Jansen type 156400 PTH1R
Metaphyseal dysplasia without hypotrichosis 250460 RMRP
Methylmalonic acidemia with homocystinuria, type cblC 277400 MMACHC
Methylmalonic acidemia with homocystinuria, type cblD 277410 MMADHC
Mevalonic aciduria 610377 MVK
Microcephaly 5, primary, autosomal recessive 608716 ASPM
Microcephaly, postnatal progressive, with seizures and brain atrophy 613668 MED17
Microcephaly, seizures, and developmental delay 613402 PNKP
Microphthalmia with coloboma 5 611638 SHH
Microphthalmia, syndromic 2 (OCULOFACIOCARDIODENTAL SYNDROME) 300166 BCOR
Microphthalmia, syndromic 7 309801 HCCS
Mitochondrial complex I deficiency 252010 NDUFA1
Mitochondrial complex I deficiency 252010 NDUFA11
Mitochondrial complex I deficiency 252010 NDUFAF1
Mitochondrial complex I deficiency 252010 NDUFAF2
Mitochondrial complex I deficiency 252010 NDUFAF3
Mitochondrial complex I deficiency 252010 NDUFAF4
Mitochondrial complex I deficiency 252010 NDUFAF5
Mitochondrial complex I deficiency 252010 NDUFB3
Mitochondrial complex I deficiency 252010 NDUFS1
Mitochondrial complex I deficiency 252010 NDUFS2
Mitochondrial complex I deficiency 252010 NDUFS3
Mitochondrial complex I deficiency 252010 NDUFS4
Mitochondrial complex I deficiency 252010 NDUFS6
Mitochondrial complex I deficiency 252010 NDUFV1
Mitochondrial complex II deficiency 252011 SDHAF1
Mitochondrial complex IV deficiency 220110 COX6B1
Mitochondrial complex IV deficiency 220110 FASTKD2
Mitochondrial complex IV deficiency 220110 TACO1
Mitochondrial complex IV deficiency 220110 COX10
Mitochondrial complex IV deficiency 220110 SCO1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273 ATPAF2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 TMEM70
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041 TYMP
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 SUCLA2
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 RRM2B
Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 RRM2B
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 3 251880 DGUOK
Mitochondrial DNA depletion syndrome, myopathic form 609560 TK2
Mitochondrial respiratory chain complex III deficiency 124000 UQCRB
Mitochondrial respiratory chain complex III deficiency 124000 UQCRQ
Mitochondrial trifunctional protein deficiency 609015 HADHA
Mitochondrial trifunctional protein deficiency 609015 HADHB
Miyoshi muscular dystrophy 1 254130 DYSF
Mohr-Tranebjaerg syndrome 304700 TIMM8A
Molybdenum cofactor deficiency A 252150 MOCS1
Molybdenum cofactor deficiency B 252160 MOCS2
Molybdenum cofactor deficiency C 615501 GPHN
Mowat-Wilson syndrome 235730 ZEB2
Mucolipidosis type 2 252500 GNPTAB
Mucolipidosis type 3 252600 GNPTAB
Mucolipidosis type 4 252650 MCOLN1
Mucopolysaccharidosis Ih 607014 IDUA
Mucopolysaccharidosis Ih/s 607015 IDUA
Mucopolysaccharidosis Is 607016 IDUA
Mucopolysaccharidosis type 2 309900 IDS
Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A) 252900 SGSH
Mucopolysaccharidosis type 4B (Morquio) 253010 GLB1
Mucopolysaccharidosis type 6 (Maroteaux-Lamy) 253200 ARSB
Mucopolysaccharidosis type 7 253220 GUSB
Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 NAGLU
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 HGSNAT
Muenke syndrome 602849 FGFR3
MULIBREY nanism 253250 TRIM37
Multiple epiphyseal dysplasia type 4 226900 SLC26A2
Multiple pterygium syndrome, lethal type 253290 CHRNA1
Multiple pterygium syndrome, lethal type 253290 CHRND
Multiple pterygium syndrome, lethal type 253290 CHRNG
Multiple sulfatase deficiency 272200 SUMF1
Muscle-eye-brain disease 613153 FKRP
Muscular dystrophy, limb-girdle, type 2A 253600 CAPN3
Muscular dystrophy, limb-girdle, type 2B 253601 DYSF
Muscular dystrophy, limb-girdle, type 2C 253700 SGCG
Muscular dystrophy, limb-girdle, type 2D 608099 SGCA
Muscular dystrophy, limb-girdle, type 2E 604286 SGCB
Muscular dystrophy, limb-girdle, type 2H 254110 TRIM32
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 ISPD
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 POMT1
retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 POMT2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151 POMGNT1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 LARGE
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 POMT1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 POMT2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 POMGNT1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 ISPD
Myasthenia, limb-girdle, familial 254300 DOK7
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326 RAPSN
Myasthenic syndrome, congenital, 1A, slow-channel 601462 CHRNA1
Myasthenic syndrome, congenital, 1B, fast-channel 608930 CHRNA1
Myasthenic syndrome, congenital, 2A, slow-channel 606313 CHRNB1
Myasthenic syndrome, congenital, 3A, slow-channel 616321 CHRND
Myasthenic syndrome, congenital, 3B, fast-channel 616322 CHRND
Myasthenic syndrome, congenital, 4A, slow-channel 605809 CHRNE
Myasthenic syndrome, congenital, 4B, fast-channel 616324 CHRNE
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931 CHRNE
Myopathy, distal, with anterior tibial onset 606768 DYSF
Nance-Horan syndrome 302350 NHS
Navajo neurohepatopathy 256810 MPV17
Nemaline myopathy 2, autosomal recessive 256030 NEB
Nemaline myopathy 5, Amish type 605355 TNNT1
Nephronophthisis 1, juvenile 256100 NPHP1
Nephronophthisis 11 613550 TMEM67
Nephronophthisis 13 614377 WDR19
Nephronophthisis 2, infantile 602088 INVS
Nephronophthisis 3 604387 NPHP3
Nephronophthisis 4 606966 NPHP4
Nephronophthisis 7 611498 GLIS2
Nephronophthisis 9 613824 NEK8
Nephrotic syndrome, type 1 256300 NPHS1
Nephrotic syndrome, type 2 600995 NPHS2
Nephrotic syndrome, type 3 610725 PLCE1
Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 LAMB2
Neu-Laxova syndrome1 256520 PHGDH
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 250620 HIBCH
Neurodegeneration due to cerebral folate transport deficiency 613068 FOLR1
Neurodegeneration with brain iron accumulation 1 234200 PANK2
Neurofibromatosis, type 1 162200 NF1
Neurofibromatosis, type 2 101000 NF2
Neutropenia, severe congenital 3, autosomal recessive 610738 HAX1
Niemann-Pick disease type A 257200 SMPD1
Niemann-Pick disease type B 607616 SMPD1
Niemann-Pick disease type C1 257220 NPC1
Niemann-Pick disease type C2 607625 NPC2
Noonan syndrome 1 163950 PTPN11
Noonan syndrome 3 609942 KRAS
Noonan syndrome 4 610733 SOS1
Noonan syndrome 5 611553 RAF1
Noonan syndrome 6 613224 NRAS
Noonan syndrome 7 613706 BRAF
Noonan-like syndrome with loose anagen hair 607721 SHOC2
Norrie disease 310600 NDP
Occipital horn syndrome 304150 ATP7A
Oculocerebrorenal syndrome- Lowe oculocerebralrenal syndrome 309000 OCRL
Oculodentodigital dysplasia 164200 GJA1
Oculodentodigital dysplasia, autosomal recessive 257850 GJA1
Ohdo syndrome, X-linked 300895 MED12
Omenn syndrome 603554 DCLRE1C
Omenn syndrome (gene RAG1) 603554 RAG1
Omenn syndrome (gene RAG2) 603554 RAG2
Opitz GBBB syndrome, type I 300000 MID1
Opitz-Kaveggia syndrome o FG Syndrome 1 305450 MED12
Ornithine transcarbamylase deficiency 311250 OTC
Orofaciodigital syndrome I 311200 OFD1
Osteogenesis imperfecta type 8 610915 LEPRE1
Osteogenesis imperfecta type VII 610682 CRTAP
Osteogenesis imperfecta, type I 166200 COL1A1
Osteogenesis imperfecta, type II 166210 COL1A2
Osteogenesis imperfecta, type II 166210 COL1A1
Osteogenesis imperfecta, type III 259420 COL1A2
Osteogenesis imperfecta, type III 259420 COL1A1
Osteogenesis imperfecta, type IV 166220 COL1A2
Osteogenesis imperfecta, type IV 166220 COL1A1
Osteogenesis imperfecta, type IX 259440 PPIB
Osteopetrosis with renal tubular acidosis Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 CA2
Osteopetrosis, autosomal recessive 5 259720 OSTM1
Otopalatodigital syndrome, type I 311300 FLNA
Otopalatodigital syndrome, type II 304120 FLNA
Otospondylomegaepiphyseal dysplasia 215150 COL11A2
Otospondylomegaepiphyseal dysplasia 215150 COL2A1
Paget disease, juvenile 239000 TNFRSF11B
Partial androgen insensitivity syndrome 312300 AR
Partington syndrome 309510 ARX
PCWH syndrome 609136 SOX10
Pelizaeus-Merzbacher disease 312080 PLP1
Pelizaeus-Merzbacher-like due to GJC2 mutation 608804 GJC2
Pendred syndrome 274600 SLC26A4
Peroxisomal acyl-CoA oxidase deficiency 264470 ACOX1
Peroxisome biogenesis disorder 10A (Zellweger) 614882 PEX3
Peroxisome biogenesis disorder 11A (Zellweger) 614883 PEX13
Peroxisome biogenesis disorder 11B 614885 PEX13
Peroxisome biogenesis disorder 12A (Zellweger) 614886 PEX19
Peroxisome biogenesis disorder 13A (Zellweger) 614887 PEX14
Peroxisome biogenesis disorder 14B 614920 PEX11B
Peroxisome biogenesis disorder 1A (Zellweger) 214100 PEX1
Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 PEX1
Peroxisome biogenesis disorder 2A (Zellweger) 214110 PEX5
Peroxisome biogenesis disorder 2B 202370 PEX5
Peroxisome biogenesis disorder 3A (Zellweger) 614859 PEX12
Peroxisome biogenesis disorder 3B 266510 PEX12
Peroxisome biogenesis disorder 4A (Zellweger) 614862 PEX6
Peroxisome biogenesis disorder 4B 614863 PEX6
Peroxisome biogenesis disorder 5A (Zellweger) 614866 PEX2
Peroxisome biogenesis disorder 5B 614867 PEX2
Peroxisome biogenesis disorder 6A (Zellweger) 614870 PEX10
Peroxisome biogenesis disorder 6B 614871 PEX10
Peroxisome biogenesis disorder 7A (Zellweger) 614873 PEX26
Peroxisome biogenesis disorder 8A, (Zellweger) 614876 PEX16
Peroxisome biogenesis disorder 8B 614877 PEX16
Peroxisome biogenesis disorder 9B 614879 PEX7
Perrault syndrome 233400 HSD17B4
Persistent truncus arteriosus 217095 GATA6
Persistent truncus arteriosus- Conotruncal heart malformations 217095 NKX2-6
Phenylketonuria 261600 PAH
Phosphoglycerate dehydrogenase deficiency 601815 PHGDH
Pierson syndrome 609049 LAMB2
Pitt-Hopkins syndrome 610954 TCF4
Platyspondylic skeletal dysplasia, Torrance type 151210 COL2A1
Polymicrogyria, bilateral frontoparietal 606854 GPR56
Polymicrogyria, symmetric or asymmetric 610031 TUBB2B
Pontocerebellar hypoplasia type 1A 607596 VRK1
Pontocerebellar hypoplasia type 2B 612389 TSEN2
Pontocerebellar hypoplasia type 2C 612390 TSEN34
Pontocerebellar hypoplasia, type 6 611523 RARS2
Porphyria, congenital erythropoietic 263700 UROS
Progressive epilepsy – intellectual deficit, Finnish type 610003 CLN8
Propionic acidemia (gene PCCA) 606054 PCCA
Propionic acidemia (gene PCCB) 606054 PCCB
Proud syndrome 300004 ARX
Proximal spinal muscular atrophy type 1 253300 SMN1
Proximal spinal muscular atrophy type 2 253550 SMN1
Proximal spinal muscular atrophy type 3 253400 SMN1
Proximal spinal muscular atrophy type 4 271150 SMN1
Pseudoachondroplasia 177170 COMP
Pseudohermaphroditism, male, with gynecomastia 264300 HSD17B3
Pseudovaginal perineoscrotal hypospadias 264600 SRD5A2
Pyridoxal phosphate-responsive seizures 610090 PNPO
Pyruvate carboxylase deficiency 266150 PC
Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked 312170 PDHA1
Pyruvate dehydrogenase E1-beta deficiency 614111 PDHB
Pyruvate dehydrogenase E2 deficiency 245348 DLAT
Pyruvate dehydrogenase phosphatase deficiency 608782 PDP1
Refsum disease 266500 PHYH
Renal-hepatic-pancreatic dysplasia 208540 NPHP3
Renal-hepatic-pancreatic dysplasia 2 615415 NEK8
Renpenning syndrome 309500 PQBP1
Restrictive dermopathy, lethal 275210 ZMPSTE24
Retinitis pigmentosa 12, autosomal recessive 600105 CRB1
Retinitis pigmentosa 19 601718 ABCA4
Retinitis pigmentosa 2 312600 RP2
Retinitis pigmentosa 20 613794 RPE65
Retinitis pigmentosa 3 300029 RPGR
Retinitis pigmentosa 39 613809 USH2A
Retinitis pigmentosa 40 613801 PDE6B
Retinitis pigmentosa 43 613810 PDE6A
Retinitis pigmentosa 59 613861 DHDDS
Retinitis pigmentosa 61 614180 CLRN1
Retinitis pigmentosa type 1, autosomal dominant 180100 RP1
Retinitis pigmentosa type 10, autosomal dominant 180105 IMPDH1
Retinitis pigmentosa type 11, autosomal dominant 600138 PRPF31
Retinitis pigmentosa type 13, autosomal dominant 600059 PRPF8
Retinitis pigmentosa type 17, autosomal dominant 600852 CA4
Retinitis pigmentosa type 18, autosomal dominant 601414 PRPF3
Retinitis pigmentosa type 27, autosomal dominant 613750 NRL
Retinitis pigmentosa type 30, autosomal dominant 607921 FSCN2
Retinitis pigmentosa type 31, autosomal dominant 609923 TOPORS
Retinitis pigmentosa type 33, autosomal dominant 610359 SNRNP200
Retinitis pigmentosa type 35, autosomal dominant 610282 SEMA4A
Retinitis pigmentosa type 4, autosomal dominant 613731 RHO
Retinitis pigmentosa type 42, autosomal dominant 612943 KLHL7
Retinitis pigmentosa type 48, autosomal dominant 613827 GUCA1B
Retinitis pigmentosa type 50, autosomal dominant 613194 BEST1
Retinitis pigmentosa type 7, autosomal dominant 608133 PRPH2
Retinitis pigmentosa type 9, autosomal dominant 180104 RP9
Rett syndrome 312750 MECP2
Rett syndrome, congenital variant 613454 FOXG1
Rhizomelic chondrodysplasia punctata type 3 600121 AGPS
Right atrial isomerism 208530 GDF1
Roberts syndrome 269000 ESCO2
Rolandic epilepsy, mental retardation, and speech dyspraxia 300643 SRPX2
Saethre-Chotzen syndrome (FGFR2) 101400 FGFR2
Saethre-Chotzen syndrome (TWIST1) 101400 TWIST1
Salla disease 604369 SLC17A5
Sandhoff disease 268800 HEXB
Scaphocephaly, maxillary retrusion, and mental retardation 609579 FGFR2
Schizencephaly 269160 EMX2
Schizencephaly 269160 SHH
Schizencephaly 269160 SIX3
Schneckenbecken dysplasia 269250 SLC35D1
Schwartz-Jampel syndrome 255800 HSPG2
Seckel syndrome 210600 ATR
SED congenita 183900 COL2A1
Senior-Loken syndrome 1 266900 NPHP1
Senior-Loken syndrome 4 606996 NPHP4
Senior-Loken syndrome 5 609254 IQCB1
Senior-Loken syndrome 6 610189 CEP290
Senior-Loken syndrome 7 613615 SDCCAG8
Senior-Loken syndrome 8 616307 WDR19
SESAME syndrome 612780 KCNJ10
Severe combined immunodeficiency due to complete RAG1 deficiency 601457 RAG1
Severe combined immunodeficiency due to complete RAG2 deficiency 601457 RAG2
Severe combined immunodeficiency due to DCLRE1C deficiency 602450 DCLRE1C
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 NHEJ1
Severe combined immunodeficiency with sensitivity to ionizing radiation 602450 LIG4
Severe combined immunodeficiency. deaminase deficiency 102700 ADA
Severe generalized recessive dystrophic epidermolysis bullosa 226600 COL7A1
Severe T-cell immunodeficiency – congenital alopecia – nail dystrophy 601705 FOXN1
Shaheen syndrome 615328 COG6
Short-rib thoracic dysplasia 3 with or without polydactyly 613091 DYNC2H1
Short-rib thoracic dysplasia 4 with or without polydactyly 613819 TTC21B
Short-rib thoracic dysplasia 5 with or without polydactyly 614376 WDR19
Short-rib thoracic dysplasia 6 with or without polydactyly 263520 NEK1
Shwachman-Diamond syndrome 260400 SBDS
Sialidosis, type I 256550 NEU1
Sialidosis, type II 256550 NEU1
Sickle cell anemia 603903 HBB
Simpson-Golabi-Behmel syndrome type 2 300209 OFD1
Simpson-Golabi-Behmel syndrome, type 1 312870 GPC3
Syndrome de Dursun 612541 G6PC3
Sjogren-Larsson syndrome 270200 ALDH3A2
SMED Strudwick type 184250 COL2A1
Smith-Lemli-Opitz syndrome 270400 DHCR7
Sotos syndrome 1 117550 NSD1
Spastic paraplegia type 2, X-linked 312920 PLP1
Spinal muscular atrophy with respiratory distress 604320 IGHMBP2
Spinal muscular atrophy, distal, autosomal recessive, 4 611067 PLEKHG5
Spondylocostal dysostosis 1, autosomal recessive 277300 DLL3
Spondyloepimetaphyseal dysplasia, aggrecan type 612813 ACAN
Spondyloepiphyseal dysplasia, Kimberley type 608361 ACAN
Spondyloperipheral dysplasia 271700 COL2A1
Stargardt dusease 1 248200 ABCA4
Stickler sydrome, type I, nonsyndromic ocular 609508 COL2A1
Stickler syndrome, type I 108300 COL2A1
Stickler syndrome, type II 604841 COL11A1
Stickler syndrome, type III 184840 COL11A2
Stickler syndrome, type IV 614134 COL9A1
Stocco dos Santos X-linked mental retardation syndrome 300434 SHROOM4
Stüve-Wiedemann syndrome 601559 LIFR
Subcortical laminal heteropia, X-linked 300067 DCX
Succinyl CoA:3-oxoacid CoA transferase deficiency 245050 OXCT1
Sudden infant death with dysgenesis of the testes syndrome 608800 TSPYL1
Sulfocysteinuria 272300 SUOX
Surfactant metabolism dysfunction, pulmonary, 1 265120 SFTPB
Surfactant metabolism dysfunction, pulmonary, 2 610913 SFTPC
Surfactant metabolism dysfunction, pulmonary, 3 610921 ABCA3
Syndromic microphthalmia type 9 601186 STRA6
Tay-Sachs disease 272800 HEXA
T-B+ severe combined immunodeficiency due to gamma chain deficiency 300400 IL2RG
T-B+ severe combined immunodeficiency due to JAK3 deficiency 600802 JAK3
T-B+ severe combined immunodeficiency, X-linked 312863 IL2RG
Tetra-amelia, autosomal recessive 273395 WNT3
Tetralogy of Fallot 187500 GATA4
Tetralogy of Fallot 187500 GATA6
Tetralogy of Fallot 187500 JAG1
Tetrology of Fallot 187500 GDF1
Tetrology of Fallot 187500 NKX2-5
Tetrology of Fallot 187500 TBX1
Thanatophoric dysplasia, type I 187600 FGFR3
Thanatophoric dysplasia, type II 187601 FGFR3
Thrombocytopenia-absent radius syndrome 274000 RBM8A
Thrombotic thrombocytopenic purpura, familial 274150 ADAMTS13
Thryoid dyshormonogenesis 6 607200 DUOX2
Thyroid dyshormonogenesis 1 274400 SLC5A5
Thyroid dyshormonogenesis 2A 274500 TPO
Thyroid dyshormonogenesis 3 274700 TG
Thyroid dyshormonogenesis 4 274800 IYD
Thyroid dyshormonogenesis 5 274900 DUOXA2
Tietz albinism-deafness syndrome 103500 MITF
Transposition of great arteries, dextro-looped 3 613854 GDF1
Transposition of the great arteries, dextro-looped 1 608808 MED13L
Transposition of the great arteries, dextro-looped 2 613853 CFC1
Treacher Collins syndrome 1 154500 TCOF1
Treacher Collins syndrome 3 248390 POLR1C
Trichothiodystrophy 1, photosensitive 601675 ERCC2
Trichothiodystrophy 2, photosensitive 616390 ERCC3
Trichothiodystrophy 3, photosensitive 616395 GTF2H5
Tuberous sclerosis-1 191100 TSC1
Tuberous sclerosis-2 613254 TSC2
Tyrosinemia type 1 276700 FAH
Tyrosinemia type 2 276600 TAT
Tyrosinemia type 3 276710 HPD
Usher syndrome type 1 276900 MYO7A
Usher syndrome type 1C 276904 USH1C
Usher syndrome type 1D 601067 CDH23
Usher syndrome type 1D/F digenic 601067 CDH23
Usher syndrome type 1F 602083 PCDH15
Usher syndrome type 1G 606943 USH1G
Usher syndrome type 2A 276901 USH2A
Usher syndrome type 2C 605472 GPR98
Usher syndrome type 3A 276902 CLRN1
Usher syndrome type 3B 614504 HARS
VACTERL association, X-linked 314390 ZIC3
Ventricular septal defect 1 614429 GATA4
Ventricular septal defect 2 614431 CITED2
Ventricular septal defect 3 614432 NKX2-5
Very long chain acyl-CoA dehydrogenase deficiency 201475 ACADVL
Vitamin B12-responsive methylmalonic acidemia type cblA 251100 MMAA
Vitamin B12-responsive methylmalonic acidemia type cblB 251110 MMAB
Vitamin B12-unresponsive methylmalonic acidemia type mut- 251000 MUT
Vitamin D-dependent rickets, type I 264700 CYP27B1
Vitamin D-dependent rickets, type II A 277440 VDR
Vitelliform macular dystrophy 2 153700 BEST1
Vitreoretinochoroidopathy 193220 BEST1
Waardenburg syndrome, type 1 193500 PAX3
Waardenburg syndrome, type 2A 193510 MITF
Waardenburg syndrome, type 2E, with or without neurologic involvement 611584 SOX10
Waardenburg syndrome, type 3 148820 PAX3
Waardenburg syndrome, type 4C 613266 SOX10
Waardenburg-Shah syndrome 4A (Sindrome di Waardenburg, tipo 4) 277580 EDNRB
Waardenburg-Shah syndrome 4B 613265 EDN3
Walker-Warburg syndrome (gene POMGNT1) 253280 POMGNT1
Walker-Warburg syndrome (gene POMT1) 236670 POMT1
Walker-Warburg syndrome (gene POMT2) 613150 POMT2
Warburg micro syndrome 1 600118 RAB3GAP1
Warburg micro syndrome 2 614225 RAB3GAP2
Weissenbacher-Zweymuller syndrome 277610 COL11A2
Wilson disease 277900 ATP7B
Wilson-Turner syndrome 309585 HDAC8
Wolcott-Rallison syndrome 226980 EIF2AK3
Wolfram syndrome 222300 WFS1
Xeroderma pigmentosum complementation group A 278700 XPA
Xeroderma pigmentosum complementation group E 278740 DDB2
Xeroderma pigmentosum, group C 278720 XPC
Xeroderma pigmentosum/Cockayne syndrome complex complementation group B 610651 ERCC3
Xeroderma pigmentosum/Cockayne syndrome complex complementation group D 278730 ERCC2
Xeroderma pigmentosum/Cockayne syndrome complex complementation group F 278760 ERCC4
Xeroderma pigmentosum/Cockayne syndrome complex complementation group G 278780 ERCC5
X-linked agammaglobulinemia 300755 BTK
X-linked centronuclear myopathy 310400 MTM1
X-linked creatine transporter deficiency 300352 SLC6A8
X-linked hyper-IgM syndrome Immunodeficiency, X-linked, with hyper-IgM 308230 CD40LG
X-linked intellectual deficit with marfanoid habitus- Lujan-Fryns syndrome 309520 MED12
X-linked spinal muscular atrophy type 2 301830 UBA1
Zellweger syndrome 7A 614872 PEX26