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Prepair 1000+ v1.1566 TCN2 Andrew Coventry reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM#275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBCK Andrew Coventry reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STRADA Andrew Coventry reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STAT1 Andrew Coventry reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590259, 16585605, 20841510, 31512162, 27117246, 21772053, 32603902; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796, Immunodeficiency 31B MONDO:0013427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SSR4 Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry changed review comment from: Affected individuals cab present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.; to: Affected individuals can present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC26A3 Andrew Coventry reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhea 1, secretory chloride, congenital MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SIL1 Andrew Coventry reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371, 16282978; Phenotypes: Marinesco-Sjogren syndrome MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SERPINH1 Andrew Coventry reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OPHN1 Andrew Coventry reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NHS Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NEK8 Andrew Coventry reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 26697755, 26862157, 26967905, 12421721, 18235101, 23274954, 23793029; Phenotypes: Renal-hepatic-pancreatic dysplasia 2 MIM#615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170
Prepair 1000+ v1.1565 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Prepair 1000+ v1.1564 PIGV Zornitza Stark Marked gene: PIGV as ready
Prepair 1000+ v1.1564 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Prepair 1000+ v1.1564 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Prepair 1000+ v1.1563 PIGV Zornitza Stark Publications for gene: PIGV were set to
Prepair 1000+ v1.1562 TRAPPC6B Zornitza Stark Tag for review tag was added to gene: TRAPPC6B.
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, 613192 (3) to Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Prepair 1000+ v1.1561 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Marked gene: UPF3B as ready
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Gene: upf3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Phenotypes for gene: UPF3B were changed from Mental retardation, X-linked, syndromic 14, 300676 (3) to Intellectual developmental disorder, X-linked syndromic 14 MIM#300676
Prepair 1000+ v1.1559 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) to Neuropathy, hereditary sensory and autonomic, type II MIM#201300
Prepair 1000+ v1.1557 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) to Fuhrmann syndrome MIM#228930; Ulna and fibula, absence of, with severe limb deficiency MIM#276820
Prepair 1000+ v1.1555 WNT7A Zornitza Stark Publications for gene: WNT7A were set to
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from Selective T-cell defect, 269840 (3) to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840
Prepair 1000+ v1.1553 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 (3) to Wieacker-Wolff syndrome MIM#314580
Prepair 1000+ v1.1551 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Prepair 1000+ v1.1550 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1549 TK2 Zornitza Stark Marked gene: TK2 as ready
Prepair 1000+ v1.1549 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1549 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560
Prepair 1000+ v1.1548 TK2 Zornitza Stark Publications for gene: TK2 were set to
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, 613953 (3), Autosomal recessive to Immunodeficiency 51, MIM #613953
Prepair 1000+ v1.1546 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4, 616370 (3) to Multiple mitochondrial dysfunctions syndrome 4, MIM #616370
Prepair 1000+ v1.1544 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Prepair 1000+ v1.1543 SBDS Zornitza Stark Marked gene: SBDS as ready
Prepair 1000+ v1.1543 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1543 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from Shwachman-Diamond syndrome, 260400 (3) to Shwachman-Diamond syndrome, MIM#260400
Prepair 1000+ v1.1542 SBDS Zornitza Stark Publications for gene: SBDS were set to
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive to Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
Prepair 1000+ v1.1540 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from Mental retardation syndrome, X-linked, Siderius type, 300263 (3) to Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263
Prepair 1000+ v1.1538 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Prepair 1000+ v1.1537 ITGA3 Zornitza Stark Tag for review tag was added to gene: ITGA3.
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from Mental retardation, X-linked 21/34, 300143 (3) to Intellectual developmental disorder, X-linked 21, MIM#300143
Prepair 1000+ v1.1536 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 (3) to Spastic ataxia 2, autosomal recessive, MIM#611302
Prepair 1000+ v1.1534 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Prepair 1000+ v1.1533 SGCB Zornitza Stark Marked gene: SGCB as ready
Prepair 1000+ v1.1533 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1533 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E, 604286 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1, 613038 (3) to Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
Prepair 1000+ v1.1531 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954
Prepair 1000+ v1.1529 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Prepair 1000+ v1.1528 SLC4A4 Cassandra Muller reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 15085340, 15471865; Phenotypes: Proximal renal tubular acidosis-ocular anomaly syndrome, 604278 (3); Mode of inheritance: None
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Phenotypes for gene: TMCO1 were changed from Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3) to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980
Prepair 1000+ v1.1527 TMCO1 Zornitza Stark Publications for gene: TMCO1 were set to
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14, 600132 (3) to Leber congenital amaurosis 15, MIM#613843; Retinitis pigmentosa 14, MIM#600132
Prepair 1000+ v1.1525 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome, 608572 (3) to Burn-McKeown syndrome, MIM#608572
Prepair 1000+ v1.1523 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Prepair 1000+ v1.1522 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115
Prepair 1000+ v1.1521 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Prepair 1000+ v1.1520 TYR Zornitza Stark Marked gene: TYR as ready
Prepair 1000+ v1.1520 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1520 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952
Prepair 1000+ v1.1519 TYR Zornitza Stark Publications for gene: TYR were set to
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132
Prepair 1000+ v1.1517 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Prepair 1000+ v1.1515 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller Deleted their comment
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome, type 1B, 276900 (3) to Usher syndrome, type 1B, MIM# 276900
Prepair 1000+ v1.1513 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Prepair 1000+ v1.1512 SLC33A1 Cassandra Muller reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22243965, 27306358, 35999711; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1512 VKORC1 Zornitza Stark Tag for review tag was added to gene: VKORC1.
Prepair 1000+ v1.1512 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1512 WAS Zornitza Stark Marked gene: WAS as ready
Prepair 1000+ v1.1512 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Prepair 1000+ v1.1512 WAS Zornitza Stark Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000
Prepair 1000+ v1.1511 WAS Zornitza Stark Publications for gene: WAS were set to
Prepair 1000+ v1.1510 WRN Zornitza Stark Marked gene: WRN as ready
Prepair 1000+ v1.1510 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1510 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700
Prepair 1000+ v1.1509 WRN Zornitza Stark Publications for gene: WRN were set to
Prepair 1000+ v1.1508 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Prepair 1000+ v1.1507 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) to Myoclonic epilepsy of Lafora 2, MIM# 620681
Prepair 1000+ v1.1504 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Prepair 1000+ v1.1503 UQCRC2 Zornitza Stark Tag for review tag was added to gene: UQCRC2.
Prepair 1000+ v1.1503 ZIC3 Marta Cifuentes Ochoa reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 (3) to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Prepair 1000+ v1.1502 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1501 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 to Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1500 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1499 KRT5 Zornitza Stark Publications for gene: KRT5 were set to
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786
Prepair 1000+ v1.1497 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1497 PKD1L1 Zornitza Stark Tag for review tag was added to gene: PKD1L1.
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, 249420 (3) to Frank-ter Haar syndrome, MIM#249420
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller Deleted their review
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN
Prepair 1000+ v1.1496 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794
Prepair 1000+ v1.1494 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Prepair 1000+ v1.1493 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992
Prepair 1000+ v1.1492 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165
Prepair 1000+ v1.1490 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Prepair 1000+ v1.1489 TRMU Zornitza Stark Marked gene: TRMU as ready
Prepair 1000+ v1.1489 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Prepair 1000+ v1.1489 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Prepair 1000+ v1.1488 TRMU Zornitza Stark Publications for gene: TRMU were set to
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678
Prepair 1000+ v1.1486 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Gene: upb1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Publications for gene: UPB1 were set to 24526388
Prepair 1000+ v1.1484 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, MIM #613161 to Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
Prepair 1000+ v1.1482 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1481 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Prepair 1000+ v1.1480 UROS Zornitza Stark Marked gene: UROS as ready
Prepair 1000+ v1.1480 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Prepair 1000+ v1.1480 UROS Zornitza Stark Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic, 263700 (3) to Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
Prepair 1000+ v1.1479 UROS Zornitza Stark Publications for gene: UROS were set to
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270
Prepair 1000+ v1.1477 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Prepair 1000+ v1.1476 WDR81 Marta Cifuentes Ochoa reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 21885617, 33724704; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430, Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1476 MED23 Zornitza Stark Marked gene: MED23 as ready
Prepair 1000+ v1.1476 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1476 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from Mental retardation, autosomal recessive 18, 614249 (3) to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249
Prepair 1000+ v1.1475 MED23 Zornitza Stark Publications for gene: MED23 were set to
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
Prepair 1000+ v1.1473 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Prepair 1000+ v1.1471 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Prepair 1000+ v1.1470 MKKS Zornitza Stark Marked gene: MKKS as ready
Prepair 1000+ v1.1470 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Prepair 1000+ v1.1470 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050
Prepair 1000+ v1.1469 MKKS Zornitza Stark Publications for gene: MKKS were set to
Prepair 1000+ v1.1468 USH1C Zornitza Stark Marked gene: USH1C as ready
Prepair 1000+ v1.1468 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1468 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171
Prepair 1000+ v1.1467 USH1C Zornitza Stark Publications for gene: USH1C were set to
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Prepair 1000+ v1.1465 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
Prepair 1000+ v1.1463 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Prepair 1000+ v1.1461 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Prepair 1000+ v1.1460 SLC25A1 Cassandra Muller reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 WDR34 Marta Cifuentes Ochoa reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 VRK1 Marta Cifuentes Ochoa reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38554151, 19646678, 21937992, 25609612, 24126608, 27281532, 34169149, 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 USH1C Marta Cifuentes Ochoa reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C MIM# 276904, MONDO:0010171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MKKS Andrew Coventry reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973238, 10973251, 12107442, 20472660, 15770229, 20177705, 28761321, 30718709; Phenotypes: Bardet-Biedl syndrome 6 MIM#605231, McKusick-Kaufman syndrome MIM#236700, MKKS-related ciliopathy MONDO:1040050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A3 Cassandra Muller reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 19387023, 20065143, 23423671; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MFSD2A Andrew Coventry reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30043326, 32572202, 26005865, 26005868; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MED23 Andrew Coventry changed review comment from: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present.; to: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.
Prepair 1000+ v1.1460 MED23 Andrew Coventry reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A2 Cassandra Muller reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 19643445; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 UROS Marta Cifuentes Ochoa reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 24027798, 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MECP2 Andrew Coventry reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1460 UPB1 Marta Cifuentes Ochoa reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 35926322, 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161, MONDO:0013164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC12A1 Cassandra Muller reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa commented on gene: TRMU: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function.

HGNC approved symbol/name: TRMU
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families

Yemenite Jewish founder variant, p.Tyr77His.
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TREX1 Marta Cifuentes Ochoa reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33996686, 36814213; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TMTC3 Marta Cifuentes Ochoa reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161, 33293961; Phenotypes: Lissencephaly 8 MIM#617255, MONDO:0014992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TCTN3 Marta Cifuentes Ochoa reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024, 34096792; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, MONDO:0009794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TAT Marta Cifuentes Ochoa reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600, MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SH3PXD2B Cassandra Muller reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 SGO1 Cassandra Muller reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia, 616201 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 PKD1L1 Lilian Downie gene: PKD1L1 was added
gene: PKD1L1 was added to Prepair 1000+. Sources: Expert list
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKD1L1 were set to PMID: 33655537; PMID: 27616478
Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal MIM#617205
Review for gene: PKD1L1 was set to AMBER
Added comment: Variable penetrance but can cause major organ malformation, particularly cardiac, intestinal malformation, ciliary dyskinesia, hydrops.
Sources: Expert list
Prepair 1000+ v1.1459 LAMC2 Clare Hunt reviewed gene: LAMC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: None
Prepair 1000+ v1.1459 KRT5 Clare Hunt reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31302245, 31312705, 34912369; Phenotypes: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 KNL1 Clare Hunt reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26626498, 22983954, 20598275, 15806441, 27149178; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UQCRC2 Lisa Norbart reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 33865955, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM#615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NHLRC1 Lauren Thomas reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ACSF3 Lisa Norbart reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ABCA4 Lisa Norbart reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 19, MIM#601718, Retinal dystrophy, early-onset severe, MIM#248200, Stargardt disease 1, MIM#248200, Cone-rod dystrophy 3, MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NDUFV1 Lauren Thomas reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WRN Lisa Norbart reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8968742, 20301687; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WAS Lisa Norbart reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12969986, 23689198, 20301357, 34307257; Phenotypes: Neutropenia, severe congenital, X-linked, MIM#300299, Thrombocytopenia, X-linked, MIM#313900, Wiskott-Aldrich syndrome, MIM#301000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 VKORC1 Lisa Norbart reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12704386, 14765194, 24963046, 18315553; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 MYO7A Lauren Thomas reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29400105, 8160750; Phenotypes: Deafness, autosomal recessive 2, MIM# 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UNC13D Lisa Norbart reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 16825436, 17993578, 21881043; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UBA5 Lisa Norbart reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545681, 27545681, 27545674, 32179706, 26872069; Phenotypes: Developmental and epileptic encephalopathy 44, MIM#617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 TYR Lisa Norbart reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868138, 37053367; Phenotypes: Oculocutaneous albinism type 1 (MONDO:0018135), Albinism, oculocutaneous, type IA, MIM#203100, Albinism, oculocutaneous, type IB, MIM#606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 SYN1 Lisa Norbart reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667; Phenotypes: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491, Intellectual developmental disorder, X-linked 50, MIM#300115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Marked gene: ITGA3 as ready
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Gene: itga3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 22512483; 25810266; 23114595; 27717396; 32198874; 26854491; 34492382; 34751145
Prepair 1000+ v1.1458 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266
Prepair 1000+ v1.1457 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes ; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: there are two very common variants in this gene that are not associated with severe disease (665C>T & 1286A>C)
Prepair 1000+ v1.1457 VPS11 Lilian Downie Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Prepair 1000+ v1.1456 VPS11 Lilian Downie Tag founder tag was added to gene: VPS11.
Prepair 1000+ v1.1456 VPS53 Lilian Downie Tag founder tag was added to gene: VPS53.
Prepair 1000+ v1.1456 TXNL4A Lisa Norbart reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003, 34713892, 28905882; Phenotypes: Burn-McKeown syndrome, MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TULP1 Lisa Norbart reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 17620573, 27440997; Phenotypes: Leber congenital amaurosis 15, MIM#613843, Retinitis pigmentosa 14, MIM#600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TMCO1 Lisa Norbart reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24194475, 20018682, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TELO2 Lisa Norbart reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944240, 27132593; Phenotypes: You-Hoover-Fong syndrome, MIM#616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 POU1F1 Lisa Norbart reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1472057, 15928241, 7593413; Phenotypes: Pituitary hormone deficiency, combined or isolated, 1, MIM#613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SGCB Cassandra Muller reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 KIF1C Clare Hunt reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 17273843, 24482476; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM#611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL1RAPL1 Clare Hunt reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 ITGA3 Kate Scarff reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22512483, 25810266, 23114595, 27717396, 32198874, 26854491, 34492382, 34751145; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PHF8 Clare Hunt reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 PIEZO2 Clare Hunt reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SBDS Cassandra Muller reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12496757, 32412173; Phenotypes: Shwachman-Diamond syndrome, 260400 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ISCA2 Kate Scarff reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 32424628, 39544370, 29470032; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM #616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL17RA Kate Scarff reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21350122, 27930337, 34390440, 26607704; Phenotypes: Immunodeficiency 51, MIM #613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TK2 Michelle Torres reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23230576; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ZC4H2 Michelle Torres reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 ZAP70 Michelle Torres Deleted their comment
Prepair 1000+ v1.1456 ZAP70 Michelle Torres commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.

Genotype-phenotype correlation:
- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 characterised by low CD8 number, normal CD4 number but with poor function.
- ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity resulting in Autoimmune disease, multisystem, infantile-onset, 2.
Prepair 1000+ v1.1456 ZAP70 Michelle Torres reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNT7A Michelle Torres reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826533, 23922166, 28855715; Phenotypes: Fuhrmann syndrome MIM#228930, Ulna and fibula, absence of, with severe limb deficiency MIM#276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNK1 Michelle Torres reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117, 21089229, 32790646; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II MIM#201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UPF3B Michelle Torres reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 TTC37 Michelle Torres reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC9 Michelle Torres reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30853973; Phenotypes: Intellectual developmental disorder, autosomal recessive 13 MIM#613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC6B Michelle Torres reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PIGV Clare Hunt reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 21739589, 20080219, 29310717, 20802478, 22228761; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRDM5 Clare Hunt reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14679583, 22122778, 21664999, 8458232, 28306229; Phenotypes: Brittle cornea syndrome 2, MIM#614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRKRA Clare Hunt reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 35844281, 18420150; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Prepair 1000+ v1.1455 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800
Prepair 1000+ v1.1453 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism, 253250 (3) to Mulibrey nanism MIM#253250
Prepair 1000+ v1.1451 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Prepair 1000+ v1.1449 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from Cataract 36, 613887 (3) to Cataract 36 MIM#613887
Prepair 1000+ v1.1447 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Prepair 1000+ v1.1445 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Prepair 1000+ v1.1444 TBCD Zornitza Stark Marked gene: TBCD as ready
Prepair 1000+ v1.1444 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1444 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Prepair 1000+ v1.1443 TBCD Zornitza Stark Publications for gene: TBCD were set to
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) to Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1441 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Prepair 1000+ v1.1440 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1440 STUB1 Zornitza Stark reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Prepair 1000+ v1.1439 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Prepair 1000+ v1.1437 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive to Hypermanganesaemia with dystonia 2, MIM# 617013
Prepair 1000+ v1.1435 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Prepair 1000+ v1.1432 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from Van den Ende-Gupta syndrome, 600920 (3) to Van den Ende-Gupta syndrome, MIM#600920
Prepair 1000+ v1.1430 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from Chylomicron retention disease, 246700 (3) to Chylomicron retention disease MIM#246700
Prepair 1000+ v1.1428 SAR1B Zornitza Stark Publications for gene: SAR1B were set to
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from Cone-rod dystrophy 13, 608194 (3) to Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446
Prepair 1000+ v1.1426 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Prepair 1000+ v1.1425 RTTN Zornitza Stark Marked gene: RTTN as ready
Prepair 1000+ v1.1425 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1425 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
Prepair 1000+ v1.1424 RTTN Zornitza Stark Publications for gene: RTTN were set to
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Marked gene: ROGDI as ready
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Gene: rogdi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Phenotypes for gene: ROGDI were changed from Kohlschutter-Tonz syndrome, 226750 (3) to Kohlschutter-Tonz syndrome MIM#226750
Prepair 1000+ v1.1422 ROGDI Zornitza Stark Publications for gene: ROGDI were set to
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from Charcot-Marie-Tooth disease, type 4B2, 604563 (3) to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475
Prepair 1000+ v1.1420 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Prepair 1000+ v1.1419 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, 614222 (3) to Warburg micro syndrome 3 MIM#614222
Prepair 1000+ v1.1418 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Prepair 1000+ v1.1417 PXDN Zornitza Stark Marked gene: PXDN as ready
Prepair 1000+ v1.1417 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1417 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from Corneal opacification and other ocular anomalies, 269400 (3) to Anterior segment dysgenesis 7, with sclerocornea, MIM#269400
Prepair 1000+ v1.1416 PXDN Zornitza Stark Publications for gene: PXDN were set to
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI, 613982 (3) to Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515
Prepair 1000+ v1.1414 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Prepair 1000+ v1.1413 SC5D Zornitza Stark Marked gene: SC5D as ready
Prepair 1000+ v1.1413 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1413 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 1000+ v1.1412 SC5D Zornitza Stark Publications for gene: SC5D were set to
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Prepair 1000+ v1.1410 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Prepair 1000+ v1.1409 SGCD Zornitza Stark Marked gene: SGCD as ready
Prepair 1000+ v1.1409 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1409 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Prepair 1000+ v1.1408 SGCD Zornitza Stark Publications for gene: SGCD were set to
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810 (3) to Fanconi-Bickel syndrome, MIM# 227810
Prepair 1000+ v1.1406 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to 30950137; 22145468
Prepair 1000+ v1.1405 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Prepair 1000+ v1.1404 SGCA Zornitza Stark Marked gene: SGCA as ready
Prepair 1000+ v1.1404 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1404 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
Prepair 1000+ v1.1403 SGCA Zornitza Stark Publications for gene: SGCA were set to
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Prepair 1000+ v1.1400 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Prepair 1000+ v1.1399 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1399 SOST Zornitza Stark Marked gene: SOST as ready
Prepair 1000+ v1.1399 SOST Zornitza Stark Gene: sost has been classified as Green List (High Evidence).
Prepair 1000+ v1.1399 SOST Zornitza Stark Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016
Prepair 1000+ v1.1398 SOST Zornitza Stark Publications for gene: SOST were set to
Prepair 1000+ v1.1397 SOST Marta Cifuentes Ochoa reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SMN1 Marta Cifuentes Ochoa reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012, 23788250, 39062735, 29904179, 33531827; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNAP29 Lauren Rogers reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783, 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCA Marta Cifuentes Ochoa reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573, 30989758; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC2A2 Lauren Rogers reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCD Lauren Rogers reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SFTPB Lauren Rogers reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SC5D Lauren Rogers reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERPINF1 Marta Cifuentes Ochoa reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245, 37425194; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982, MONDO:0013515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PXDN Clare Hunt reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21474777, 24939590, 21907015; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM#269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RAB18 Clare Hunt reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473985, 20512159, 23420520, 23176487; Phenotypes: Warburg micro syndrome 3 MIM#614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SBF2 Marta Cifuentes Ochoa reviewed gene: SBF2: Rating: ; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ROGDI Clare Hunt reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 8133980, 22482807; Phenotypes: Kohlschutter-Tonz syndrome MIM#226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RTTN Marta Cifuentes Ochoa reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RPGRIP1 Marta Cifuentes Ochoa reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25414380, 28456785, 24997176, 28559085, 33308271, 31666973, 39669618, 34722527; Phenotypes: Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SAR1B Clare Hunt reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552, 3792776, 18786134; Phenotypes: Chylomicron retention disease MIM#246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SCARF2 Clare Hunt reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23808541, 33783941, 19449421, 35256560, 1609830; Phenotypes: Van den Ende-Gupta syndrome, MIM#600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERAC1 Clare Hunt reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19015156, 23355087, 22683713, 23918762, 28916646, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC35A3 Clare Hunt reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777481, 24031089, 28328131; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures MIM#615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC39A14 Clare Hunt reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 29498153, 27231142, 30232769; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC5A7 Clare Hunt reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNX14 Clare Hunt reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285, 24501761; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 MIM#616354; Mode of inheritance: None
Prepair 1000+ v1.1397 SPART Clare Hunt reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 28679690, 6022528, 20437587; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 STUB1 Clare Hunt reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: 24113144, 24742043; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Mode of inheritance: None
Prepair 1000+ v1.1397 TBCD Clare Hunt reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666374, 27666370, 27807845, 31569255; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TCTN2 Clare Hunt reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 32655147, 33590725, 25118024, 25182137; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TDRD7 Clare Hunt reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 21436445, 28418495; Phenotypes: Cataract 36 MIM#613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TGM1 Clare Hunt reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326318, 10482949, 11298529, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TRIM37 Clare Hunt reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 25470042, 33042106, 17100991, 12754710, 11938494; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UBR1 Clare Hunt reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544, 18553553, 16311597; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UGT1A1 Clare Hunt reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12983120, 37585628, 1734381, 5411133, 9413009; Phenotypes: Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 VPS11 Clare Hunt reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307567, 26307567, 27473128, 11250079, 33452836; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 POMK Lisa Norbart reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX13 Lisa Norbart reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883, Peroxisome biogenesis disorder 11B, MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX12 Lisa Norbart reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859, Peroxisome biogenesis disorder 3B, MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 P3H1 Lisa Norbart reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17277775, 19088120, 27864101, 33737016, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, MIM#610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ORAI1 Lisa Norbart reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 38982518; Phenotypes: Immunodeficiency 9, MIM#612782, Myopathy, tubular aggregate, 2, MIM#615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 NDUFS1 Lisa Norbart reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 MPL Zornitza Stark Marked gene: MPL as ready
Prepair 1000+ v1.1397 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1397 MPL Zornitza Stark Publications for gene: MPL were set to
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250
Prepair 1000+ v1.1395 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Prepair 1000+ v1.1394 MUT Zornitza Stark Marked gene: MUT as ready
Prepair 1000+ v1.1394 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Prepair 1000+ v1.1394 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813
Prepair 1000+ v1.1392 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Prepair 1000+ v1.1391 LEP Zornitza Stark Marked gene: LEP as ready
Prepair 1000+ v1.1391 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Prepair 1000+ v1.1391 LEP Zornitza Stark Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962 (3) to Obesity, morbid, due to leptin deficiency, MIM#614962
Prepair 1000+ v1.1390 LEP Zornitza Stark Publications for gene: LEP were set to
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Prepair 1000+ v1.1388 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Prepair 1000+ v1.1386 LMBRD1 Zornitza Stark Publications for gene: LMBRD1 were set to
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from Mental retardation, X-linked syndromic, Raymond type, 300799 (3) to Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Prepair 1000+ v1.1384 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Prepair 1000+ v1.1382 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851
Prepair 1000+ v1.1380 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200
Prepair 1000+ v1.1378 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Prepair 1000+ v1.1376 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, 614702 (3) to Combined oxidative phosphorylation deficiency 10, MIM#614702
Prepair 1000+ v1.1374 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Prepair 1000+ v1.1373 MVK Zornitza Stark Marked gene: MVK as ready
Prepair 1000+ v1.1373 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1373 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920
Prepair 1000+ v1.1372 MVK Zornitza Stark Publications for gene: MVK were set to
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Prepair 1000+ v1.1370 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Prepair 1000+ v1.1368 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Prepair 1000+ v1.1367 NDUFA10 Lisa Norbart reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MYO5B Lisa Norbart reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 27532546; Phenotypes: Cholestasis, progressive familial intrahepatic, 10, MIM#619868, Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MVK Lisa Norbart reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27012807, 16722536; Phenotypes: Mevalonic aciduria, MIM#610377, Hyper-IgD syndrome, MIM#260920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTO1 Lisa Norbart reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM#614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPV17 Lisa Norbart reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MCPH1 Lisa Norbart reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20978018, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM#251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VPS53 Clare Hunt reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM#615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VSX2 Clare Hunt reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 8630490, 17661825, 3378363, 10932181; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 ZDHHC9 Clare Hunt reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1367 LMBRD1 Lisa Norbart reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136951; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 IFT80 Clare Hunt reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LEP Lisa Norbart reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM#614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LDLRAP1 Lisa Norbart reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Familial hypercholesterolemia 4, MIM#603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MUT Lauren Thomas changed review comment from: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:
• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.
• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT; to: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:

• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.

• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT
Prepair 1000+ v1.1367 MUT Lauren Thomas reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: common variants not associated with severe disease are not reported; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.1367 MTHFR Lauren Thomas reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25024447, 8456826; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPL Lauren Thomas reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 17054430, 16351641, 11133753; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Marked gene: LCA5 as ready
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Gene: lca5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537
Prepair 1000+ v1.1366 LCA5 Zornitza Stark Publications for gene: LCA5 were set to
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from Mental retardation, autosomal recessive 15, 614202 (3) to Rafiq syndrome, MIM# 614202
Prepair 1000+ v1.1364 MAN1B1 Zornitza Stark Publications for gene: MAN1B1 were set to
Prepair 1000+ v1.1363 MAOA Zornitza Stark Marked gene: MAOA as ready
Prepair 1000+ v1.1363 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1363 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from Brunner syndrome, 300615 (3) to Brunner syndrome, MIM# 300615
Prepair 1000+ v1.1362 MAOA Zornitza Stark Publications for gene: MAOA were set to
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, 257920 (3) to 3MC syndrome 1, MIM# 257920
Prepair 1000+ v1.1360 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Prepair 1000+ v1.1359 MPI Zornitza Stark Marked gene: MPI as ready
Prepair 1000+ v1.1359 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1359 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579
Prepair 1000+ v1.1358 MPI Zornitza Stark Publications for gene: MPI were set to
Prepair 1000+ v1.1357 MPI Lauren Thomas reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 32266963, 19101627, 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MASP1 Lauren Thomas reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106, 16096999; Phenotypes: 3MC syndrome 1, MIM# 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MAOA Lauren Thomas reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1357 MAN1B1 Lauren Thomas reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763484, 26279649, 20345473; Phenotypes: Rafiq syndrome, MIM# 614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 LCA5 Lauren Thomas reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10631161, 12642313, 17546029; Phenotypes: Leber congenital amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 DCLRE1C Lauren Thomas changed review comment from: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3.
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"; to: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3 (~59%)
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Athabaskan brainstem dysgenesis syndrome, 601536 (3) to Athabaskan brainstem dysgenesis syndrome, MIM#601536; Bosley-Salih-Alorainy syndrome, MIM#601536
Prepair 1000+ v1.1356 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease to HSD10 mitochondrial disease, MIM#300438
Prepair 1000+ v1.1354 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Prepair 1000+ v1.1353 IARS Zornitza Stark Marked gene: IARS as ready
Prepair 1000+ v1.1353 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1353 IARS Zornitza Stark Phenotypes for gene: IARS were changed from Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, mycobacteriosis, 614889 (3) to Immunodeficiency 28, mycobacteriosis, MIM#614889
Prepair 1000+ v1.1351 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Marked gene: IL11RA as ready
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Gene: il11ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Phenotypes for gene: IL11RA were changed from Craniosynostosis and dental anomalies, 614188 (3) to Craniosynostosis and dental anomalies, MIM#614188
Prepair 1000+ v1.1349 IL11RA Zornitza Stark Publications for gene: IL11RA were set to
Prepair 1000+ v1.1348 IL11RA Crystle Lee reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM#614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IFNGR2 Crystle Lee reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18625743, 31497017; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM#614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IARS Crystle Lee reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 HSD17B10 Crystle Lee reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; Phenotypes: HSD10 mitochondrial disease, MIM#300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1348 HOXA1 Crystle Lee reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18412118; Phenotypes: Athabaskan brainstem dysgenesis syndrome, MIM#601536, Bosley-Salih-Alorainy syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Gene: fmr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from Fragile X syndrome to Fragile X syndrome, MIM #300624
Prepair 1000+ v1.1347 FMR1 Zornitza Stark Publications for gene: FMR1 were set to
Prepair 1000+ v1.1346 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from Ciliary dyskinesia, primary, 24, 615481 (3) to Ciliary dyskinesia, primary, 24 MIM#615481
Prepair 1000+ v1.1345 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) to Histiocytosis-lymphadenopathy plus syndrome MIM#602782
Prepair 1000+ v1.1343 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Prepair 1000+ v1.1342 SUOX Zornitza Stark Marked gene: SUOX as ready
Prepair 1000+ v1.1342 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Prepair 1000+ v1.1342 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency MIM#272300
Prepair 1000+ v1.1341 SUOX Zornitza Stark Publications for gene: SUOX were set to
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308
Prepair 1000+ v1.1339 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from Transaldolase deficiency, 606003 (3) to Transaldolase deficiency MIM#606003
Prepair 1000+ v1.1337 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Prepair 1000+ v1.1336 TSFM Zornitza Stark Marked gene: TSFM as ready
Prepair 1000+ v1.1336 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Prepair 1000+ v1.1336 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3, 610505 (3) to Combined oxidative phosphorylation deficiency 3, MIM#610505
Prepair 1000+ v1.1335 TSFM Zornitza Stark Publications for gene: TSFM were set to
Prepair 1000+ v1.1334 TWNK Zornitza Stark Marked gene: TWNK as ready
Prepair 1000+ v1.1334 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1334 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138
Prepair 1000+ v1.1333 TWNK Zornitza Stark Publications for gene: TWNK were set to
Prepair 1000+ v1.1332 UMPS Zornitza Stark Marked gene: UMPS as ready
Prepair 1000+ v1.1332 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Prepair 1000+ v1.1332 UMPS Zornitza Stark Phenotypes for gene: UMPS were changed from Orotic aciduria, 258900 (3) to Orotic aciduria, MIM#258900
Prepair 1000+ v1.1331 UMPS Zornitza Stark Publications for gene: UMPS were set to
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465
Prepair 1000+ v1.1329 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from Senior-Loken syndrome 8, 616307 (3) to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Prepair 1000+ v1.1327 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to Alport syndrome 1, X-linked, MIM#301050
Prepair 1000+ v1.1325 COL4A5 Zornitza Stark Publications for gene: COL4A5 were set to
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from Optic atrophy 7, 612989 (3) to Optic atrophy 7 MIM#612989
Prepair 1000+ v1.1323 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, 610688 (3) to COACH syndrome 1 MIM#216360; Joubert syndrome 6 MIM#610688; Meckel syndrome 3 MIM#607361; Nephronophthisis 11 MIM#613550
Prepair 1000+ v1.1321 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, 612301 (3) to Osteopetrosis, autosomal recessive 7, MIM#612301
Prepair 1000+ v1.1319 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Gene: tp53rk has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Tag for review tag was added to gene: TP53RK.
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) to Mitochondrial complex III deficiency, nuclear type 2 MIM#615157
Prepair 1000+ v1.1317 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2, 204100 (3) to Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Prepair 1000+ v1.1314 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844
Prepair 1000+ v1.1313 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Prepair 1000+ v1.1312 USB1 Zornitza Stark Marked gene: USB1 as ready
Prepair 1000+ v1.1312 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1312 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia, 604173 (3) to Poikiloderma with neutropenia MIM#604173
Prepair 1000+ v1.1311 USB1 Zornitza Stark Publications for gene: USB1 were set to
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, 182230 (3) to Septooptic dysplasia, MIM#182230; Pituitary hormone deficiency, combined, 5 MIM#182230; Growth hormone deficiency with pituitary anomalies, MIM#182230
Prepair 1000+ v1.1309 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive to Myopathy, X-linked, with excessive autophagy MIM#310440
Prepair 1000+ v1.1307 VMA21 Zornitza Stark Publications for gene: VMA21 were set to
Prepair 1000+ v1.1306 GHR Zornitza Stark Marked gene: GHR as ready
Prepair 1000+ v1.1306 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1306 GHR Zornitza Stark Phenotypes for gene: GHR were changed from Laron dwarfism, 262500 (3) to Laron dwarfism, MIM#262500
Prepair 1000+ v1.1305 GHR Zornitza Stark Publications for gene: GHR were set to
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710; Parkinsonism-dystonia 3, childhood-onset MIM#619738
Prepair 1000+ v1.1303 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Prepair 1000+ v1.1302 PTS Zornitza Stark Marked gene: PTS as ready
Prepair 1000+ v1.1302 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Prepair 1000+ v1.1302 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Prepair 1000+ v1.1301 PTS Zornitza Stark Publications for gene: PTS were set to
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 (3) to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Prepair 1000+ v1.1299 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome, 222300 (3) to Wolfram syndrome 1 MIM#222300
Prepair 1000+ v1.1297 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Prepair 1000+ v1.1295 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Prepair 1000+ v1.1294 FLNA Zornitza Stark Marked gene: FLNA as ready
Prepair 1000+ v1.1294 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Prepair 1000+ v1.1294 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to FG syndrome 2, MIM#300321; Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Prepair 1000+ v1.1293 FLNA Zornitza Stark Publications for gene: FLNA were set to
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Gene: pola1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Prepair 1000+ v1.1291 POLA1 Zornitza Stark Tag for review tag was added to gene: POLA1.
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Prepair 1000+ v1.1290 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Prepair 1000+ v1.1289 EDA Zornitza Stark Marked gene: EDA as ready
Prepair 1000+ v1.1289 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Prepair 1000+ v1.1289 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
Prepair 1000+ v1.1288 EDA Zornitza Stark Publications for gene: EDA were set to
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840 (3) to Vici syndrome MIM# 242840
Prepair 1000+ v1.1286 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive to Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756
Prepair 1000+ v1.1284 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Prepair 1000+ v1.1283 HES7 Zornitza Stark Marked gene: HES7 as ready
Prepair 1000+ v1.1283 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1283 HES7 Zornitza Stark Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859
Prepair 1000+ v1.1282 HES7 Zornitza Stark Publications for gene: HES7 were set to
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084
Prepair 1000+ v1.1280 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389
Prepair 1000+ v1.1278 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819
Prepair 1000+ v1.1276 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985
Prepair 1000+ v1.1274 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270
Prepair 1000+ v1.1272 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Prepair 1000+ v1.1271 POMP Zornitza Stark Marked gene: POMP as ready
Prepair 1000+ v1.1271 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1271 POMP Zornitza Stark Publications for gene: POMP were set to
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Tag deep intronic tag was added to gene: TRIP11.
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Gene: trip11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Phenotypes for gene: TRIP11 were changed from Achondrogenesis, type IA, 200600 (3) to Achondrogenesis, type IA, MIM#200600
Prepair 1000+ v1.1269 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Prepair 1000+ v1.1268 EDAR Clare Hunt edited their review of gene: EDAR: Changed phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 GJA1 Michelle Torres changed review comment from: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM). Pfitzer C 2024 concludes that researchers must move beyond the expectation that a single disease-causing variant can be found (PMID 38884762).; to: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM; PMID 38884762).
Prepair 1000+ v1.1268 IL12RB1 Lauren Thomas edited their review of gene: IL12RB1: Changed rating: GREEN
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. As noted above, genotype-phenotype correlation is unclear.
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. Relevance for Prepair requires discussion.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.
Prepair 1000+ v1.1268 POMP Lucy Spencer reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32425927; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from Immunodeficiency 35, 611521 (3) to Immunodeficiency 35, MIM #611521
Prepair 1000+ v1.1267 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) to Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860
Prepair 1000+ v1.1265 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500
Prepair 1000+ v1.1263 GCDH Zornitza Stark Marked gene: GCDH as ready
Prepair 1000+ v1.1263 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1263 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670
Prepair 1000+ v1.1262 GCDH Zornitza Stark Publications for gene: GCDH were set to
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Prepair 1000+ v1.1260 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Prepair 1000+ v1.1258 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Prepair 1000+ v1.1257 WDR62 Kate Scarff reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20890279, 20890278, 20729831, 21496009, 21834044, 22775483, 32677750; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HIBCH Crystle Lee reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762937; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GCDH Crystle Lee reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788423, 37020324; Phenotypes: Glutaric aciduria, type I, MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GBE1 Crystle Lee reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 UBE2A Kate Scarff reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 TYK2 Kate Scarff reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17088085, 26304966, 34569645, 32537443; Phenotypes: Immunodeficiency 35, MIM #611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TUBGCP6 Kate Scarff reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692, 22279524, 39634241, 37927319, 37031378; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC8 Kate Scarff reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM #615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC21B Kate Scarff reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21258341, 25492405, 33875766; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSEN2 Kate Scarff reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23562994, 20952379, 18711368; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM #612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRNT1 Kate Scarff reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25193871, 23553769, 27389523, 29170023; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HES7 Clare Hunt reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HACE1 Clare Hunt reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 26424145, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EPG5 Melanie Marty reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EDA Melanie Marty reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 DOK7 Melanie Marty reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392, 34132406, 37849383; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 POLA1 Michelle Torres reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220, Van Esch-O'Driscoll syndrome MIM#301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 FLNA Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 YIF1B Michelle Torres reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006098, 26077767, 33103737, 36948290, 34373908, 39265055; Phenotypes: Kaya-Barakat-Masson syndrome MIM#619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RETREG1 Marta Cifuentes Ochoa reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WFS1 Michelle Torres reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301750, 33946243; Phenotypes: Wolfram syndrome 1 MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 DHDDS Crystle Lee reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 21295282; Phenotypes: Retinitis pigmentosa 59, MIM#613861, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 PTS Marta Cifuentes Ochoa reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WARS2 Michelle Torres reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37107582, 37824696; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710, Parkinsonism-dystonia 3, childhood-onset MIM#619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GHR Crystle Lee reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 37474955, 20583548, 31429861; Phenotypes: Laron dwarfism, MIM#262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 VMA21 Michelle Torres reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 HESX1 Crystle Lee reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16940453; Phenotypes: Septooptic dysplasia, MIM#182230, Pituitary hormone deficiency, combined, 5 MIM#182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 USB1 Michelle Torres reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29072891; Phenotypes: Poikiloderma with neutropenia MIM#604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPS6KA3 Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 TYRP1 Michelle Torres reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097, 25093188; Phenotypes: Albinism, oculocutaneous, type III MIM#203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPE65 Crystle Lee reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 20, MIM#613794, Leber congenital amaurosis 2, MIM#204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC19 Michelle Torres reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319, 25887401; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRAC Michelle Torres reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient MIM#615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TP53RK Michelle Torres reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4 MIM#617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TNFRSF11A Michelle Torres reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM67 Michelle Torres reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 29891882, 20232449, 26092869, 27336129; Phenotypes: COACH syndrome 1 MIM#216360, Joubert syndrome 6 MIM#610688, Meckel syndrome 3 MIM#607361, Nephronophthisis 11 MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRIP11 Kate Scarff reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20089971, 29872333, 31903676, 34057271, 34014608; Phenotypes: Achondrogenesis, type IA, MIM #200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM126A Michelle Torres reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33879611; Phenotypes: Optic atrophy 7 MIM#612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 COL4A5 Crystle Lee reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 WDR19 Crystle Lee reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 38163131, 22019273; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Prepair 1000+ v1.1257 UMPS Crystle Lee reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28205048, 33489760; Phenotypes: Orotic aciduria, MIM#258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22282472, 34354814, 20301500; Phenotypes: Joubert syndrome 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TWNK Crystle Lee changed review comment from: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.; to: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.
Prepair 1000+ v1.1257 TWNK Crystle Lee reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSFM Crystle Lee reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 33816677, 31267352, 30911037, 27677415; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TALDO1 Michelle Torres reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25388407, 23315216, 29923087, 26238251, 11283793, 30740741; Phenotypes: Transaldolase deficiency MIM#606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM216 Crystle Lee reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2, MIM#608091, Meckel syndrome 2, MIM#603194, Retinitis pigmentosa 98, MIM#620996, ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SUOX Michelle Torres reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: Sulfite oxidase deficiency MIM#272300; Phenotypes: 9428520, 15952210, 31127934, 39676698, 36303223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SLC29A3 Michelle Torres reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20619369, 34657628, 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RSPH1 Michelle Torres reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197, 24568568; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744
Prepair 1000+ v1.1256 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181
Prepair 1000+ v1.1254 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) to RNU4ATAC spectrum disorder MONDO:0100558
Prepair 1000+ v1.1252 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Prepair 1000+ v1.1251 RNU4ATAC Zornitza Stark Tag for review tag was added to gene: RNU4ATAC.
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) to Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313
Prepair 1000+ v1.1250 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300
Prepair 1000+ v1.1248 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787
Prepair 1000+ v1.1246 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Prepair 1000+ v1.1245 RORC Zornitza Stark Marked gene: RORC as ready
Prepair 1000+ v1.1245 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1245 RORC Zornitza Stark Phenotypes for gene: RORC were changed from Immunodeficiency 42, 616622 (3), Autosomal recessive to Immunodeficiency 42 MIM#616622
Prepair 1000+ v1.1244 RORC Zornitza Stark Publications for gene: RORC were set to
Prepair 1000+ v1.1243 PCCB Zornitza Stark Marked gene: PCCB as ready
Prepair 1000+ v1.1243 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1243 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628
Prepair 1000+ v1.1242 PCCB Zornitza Stark Publications for gene: PCCB were set to
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) to Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
Prepair 1000+ v1.1240 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872 to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939
Prepair 1000+ v1.1238 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease, 312080 (3) to Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733
Prepair 1000+ v1.1236 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Prepair 1000+ v1.1235 PROC Marta Cifuentes Ochoa reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31577252, 32980846; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PLP1 Marta Cifuentes Ochoa reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1235 PEX26 Marta Cifuentes Ochoa reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938, Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCYT1A Marta Cifuentes Ochoa reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28272537, 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCCB Marta Cifuentes Ochoa reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773, 35296328; Phenotypes: Propionicacidemia MIM#606054, propionic acidemia MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RORC Michelle Torres reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376, 32960152; Phenotypes: Immunodeficiency 42 MIM#616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 OPA3 Marta Cifuentes Ochoa reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928268, 39166438, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III MIM#258501, 3-methylglutaconic aciduria type 3 MONDO:0009787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 NPHS1 Marta Cifuentes Ochoa reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 10972661; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300, congenital nephrotic syndrome, Finnish type MONDO:0009732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 ROBO3 Michelle Torres reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNU4ATAC Michelle Torres reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36795902, 26522830; Phenotypes: RNU4ATAC spectrum disorder MONDO:0100558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNASEH2B Michelle Torres reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2 MIM#610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RBBP8 Michelle Torres reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333564, 24440292, 21998596, 24389050, 34270086; Phenotypes: Jawad syndrome MIM#251255, Seckel syndrome 2 MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from Peroxisome biogenesis disorder 8A, (Zellweger), 614876 to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877
Prepair 1000+ v1.1234 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Prepair 1000+ v1.1233 PHYH Zornitza Stark Marked gene: PHYH as ready
Prepair 1000+ v1.1233 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1233 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease, 266500 (3) to Refsum disease MIM#266500
Prepair 1000+ v1.1232 PHYH Zornitza Stark Publications for gene: PHYH were set to
Prepair 1000+ v1.1231 PIGL Zornitza Stark Marked gene: PIGL as ready
Prepair 1000+ v1.1231 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1231 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome, 280000 (3) to CHIME syndrome, MIM# 280000, MONDO:0010221
Prepair 1000+ v1.1230 PIGL Zornitza Stark Publications for gene: PIGL were set to
Prepair 1000+ v1.1229 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive to Myopathy, myofibrillar, 8 MIM#617258
Prepair 1000+ v1.1228 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 6, MIM #618228
Prepair 1000+ v1.1226 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis, type I, 256550 (3) to Sialidosis, type I, MIM #256550; Sialidosis, type II, MIM #256550
Prepair 1000+ v1.1224 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, MIM #300912 to Intellectual developmental disorder, X-linked 98, MIM #300912
Prepair 1000+ v1.1222 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 (3) to Desbuquois dysplasia 2, MIM#615777
Prepair 1000+ v1.1220 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from CK syndrome, 300831 (3) to CK syndrome, MIM#300831
Prepair 1000+ v1.1218 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847
Prepair 1000+ v1.1216 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Marked gene: KRT8 as ready
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Gene: krt8 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Phenotypes for gene: KRT8 were changed from CIRRHOSIS, FAMILIAL, MIM #215600 to Cirrhosis, cryptogenic, MIM#215600
Prepair 1000+ v1.1214 PDHB Zornitza Stark Marked gene: PDHB as ready
Prepair 1000+ v1.1214 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1214 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Prepair 1000+ v1.1213 PDHB Zornitza Stark Publications for gene: PDHB were set to
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger), 614866 to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Peroxisome biogenesis disorder 5B, MIM#614867
Prepair 1000+ v1.1211 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Prepair 1000+ v1.1209 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100 to Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100
Prepair 1000+ v1.1207 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7, 610951 (3) to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Prepair 1000+ v1.1205 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Prepair 1000+ v1.1203 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Prepair 1000+ v1.1202 MID1 Zornitza Stark Marked gene: MID1 as ready
Prepair 1000+ v1.1202 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1202 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I, 300000 (3) to Opitz GBBB syndrome MIM#300000; MONDO:0017138
Prepair 1000+ v1.1201 MID1 Zornitza Stark Publications for gene: MID1 were set to
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Marked gene: MMP21 as ready
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Gene: mmp21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Phenotypes for gene: MMP21 were changed from Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive to Heterotaxy, visceral, 7, autosomal MIM#616749; MONDO:0014762
Prepair 1000+ v1.1199 MMP21 Zornitza Stark Publications for gene: MMP21 were set to
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive to Ciliary dyskinesia, primary, 36, X-linked, MIM #300991
Prepair 1000+ v1.1197 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from Combined oxidative phosphorylation deficiency 24, 616239 (3) to Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547
Prepair 1000+ v1.1195 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Prepair 1000+ v1.1194 NNT Zornitza Stark Marked gene: NNT as ready
Prepair 1000+ v1.1194 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1194 NNT Zornitza Stark Phenotypes for gene: NNT were changed from Glucocorticoid deficiency 4, 614736 (3) to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; MONDO:0013874
Prepair 1000+ v1.1193 NNT Zornitza Stark Publications for gene: NNT were set to
Prepair 1000+ v1.1192 PSAP Zornitza Stark Marked gene: PSAP as ready
Prepair 1000+ v1.1192 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1192 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Prepair 1000+ v1.1191 PSAP Zornitza Stark Publications for gene: PSAP were set to
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Marked gene: RAB33B as ready
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Gene: rab33b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Phenotypes for gene: RAB33B were changed from Smith-McCort dysplasia 2, 615222 (3) to Smith-McCort dysplasia 2, MIM #615222
Prepair 1000+ v1.1189 RAB33B Zornitza Stark Publications for gene: RAB33B were set to
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271 (3) to Intellectual developmental disorder, X-linked 72, MIM #300271
Prepair 1000+ v1.1187 RAB39B Zornitza Stark Publications for gene: RAB39B were set to
Prepair 1000+ v1.1186 RARS Zornitza Stark Marked gene: RARS as ready
Prepair 1000+ v1.1186 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1186 RARS Zornitza Stark Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9, 616140 (3) to Leukodystrophy, hypomyelinating, 9, MIM#616140
Prepair 1000+ v1.1185 RARS Zornitza Stark Publications for gene: RARS were set to
Prepair 1000+ v1.1184 RAX Zornitza Stark Marked gene: RAX as ready
Prepair 1000+ v1.1184 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Prepair 1000+ v1.1184 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 1000+ v1.1183 RAX Zornitza Stark Publications for gene: RAX were set to
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) to Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895
Prepair 1000+ v1.1181 RBCK1 Zornitza Stark Publications for gene: RBCK1 were set to
Prepair 1000+ v1.1180 RP2 Zornitza Stark Marked gene: RP2 as ready
Prepair 1000+ v1.1180 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1180 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from Retinitis pigmentosa 2, 312600 (3) to Retinitis pigmentosa 2, MIM#312600
Prepair 1000+ v1.1179 RP2 Zornitza Stark Publications for gene: RP2 were set to
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM #300523
Prepair 1000+ v1.1177 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) to Anaemia, sideroblastic, 1, MIM #300751
Prepair 1000+ v1.1175 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, 269250 (3) to Schneckenbecken dysplasia, MIM#269250
Prepair 1000+ v1.1173 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Phenotypes for gene: SPATA7 were changed from Leber congenital amaurosis 3, 604232 (3) to Leber congenital amaurosis 3, MIM #604232; Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232
Prepair 1000+ v1.1171 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Marked gene: TAP1 as ready
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Gene: tap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Phenotypes for gene: TAP1 were changed from Bare lymphocyte syndrome, type I, 604571 (3) to MHC class I deficiency 1, MIM #604571
Prepair 1000+ v1.1169 TAP1 Zornitza Stark Publications for gene: TAP1 were set to
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive to Orofaciodigital syndrome XVI, MIM#617563
Prepair 1000+ v1.1167 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, 611523 (3) to Pontocerebellar hypoplasia, type 6, MIM#611523
Prepair 1000+ v1.1165 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Phenotypes for gene: MOCS1 were changed from Molybdenum cofactor deficiency A, 252150 (3) to Molybdenum cofactor deficiency A, MIM#252150
Prepair 1000+ v1.1163 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712 (3) to Leber congenital amaurosis 13, MIM#612712
Prepair 1000+ v1.1161 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Phenotypes for gene: RFXANK were changed from MHC class II deficiency, complementation group B, 209920 (3) to MHC class II deficiency 2, MIM#620815
Prepair 1000+ v1.1159 RFXANK Zornitza Stark Publications for gene: RFXANK were set to
Prepair 1000+ v1.1158 MTR Zornitza Stark Marked gene: MTR as ready
Prepair 1000+ v1.1158 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1158 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Prepair 1000+ v1.1157 MTR Zornitza Stark Publications for gene: MTR were set to
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from Combined oxidative phosphorylation deficiency 11, 614922 (3) to Combined oxidative phosphorylation deficiency 11, MIM#614922
Prepair 1000+ v1.1155 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, 252011 (3) to Mitochondrial complex II deficiency, nuclear type 2, MIM#619166
Prepair 1000+ v1.1153 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Prepair 1000+ v1.1151 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145
Prepair 1000+ v1.1149 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Prepair 1000+ v1.1148 STX11 Zornitza Stark Marked gene: STX11 as ready
Prepair 1000+ v1.1148 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1148 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1147 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1146 STX11 Zornitza Stark Publications for gene: STX11 were set to
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from N-terminal acetyltransferase deficiency, 300855 (3) to Ogden syndrome (MIM#300855); Syndromic microphthalmia 1 (MIM#309800)
Prepair 1000+ v1.1144 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Prepair 1000+ v1.1142 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Prepair 1000+ v1.1141 NALCN Zornitza Stark Marked gene: NALCN as ready
Prepair 1000+ v1.1141 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1141 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Prepair 1000+ v1.1140 NALCN Zornitza Stark Publications for gene: NALCN were set to
Prepair 1000+ v1.1139 NANS Zornitza Stark Marked gene: NANS as ready
Prepair 1000+ v1.1139 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Prepair 1000+ v1.1139 NANS Zornitza Stark Phenotypes for gene: NANS were changed from Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Prepair 1000+ v1.1138 NANS Zornitza Stark Publications for gene: NANS were set to
Prepair 1000+ v1.1137 TCAP Zornitza Stark Marked gene: TCAP as ready
Prepair 1000+ v1.1137 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1137 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from Muscular dystrophy, limb-girdle, type 2G, 601954 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954
Prepair 1000+ v1.1136 TCAP Zornitza Stark Publications for gene: TCAP were set to
Prepair 1000+ v1.1135 NBN Zornitza Stark Marked gene: NBN as ready
Prepair 1000+ v1.1135 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1135 NBN Zornitza Stark Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 (3) to Nijmegen breakage syndrome, MIM#251260
Prepair 1000+ v1.1134 NBN Zornitza Stark Publications for gene: NBN were set to
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)
Prepair 1000+ v1.1132 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3) to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520
Prepair 1000+ v1.1130 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Prepair 1000+ v1.1129 CFI Zornitza Stark Marked gene: CFI as ready
Prepair 1000+ v1.1129 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1129 CFI Zornitza Stark Phenotypes for gene: CFI were changed from Complement factor I deficiency, 610984 (3) to Complement factor I deficiency, MIM#610984
Prepair 1000+ v1.1128 CFI Zornitza Stark Publications for gene: CFI were set to
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Prepair 1000+ v1.1126 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3) to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Prepair 1000+ v1.1124 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from Leber congenital amaurosis 9, 608553 (3) to Leber congenital amaurosis 9, MIM#608553
Prepair 1000+ v1.1122 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Prepair 1000+ v1.1120 PC Zornitza Stark Marked gene: PC as ready
Prepair 1000+ v1.1120 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1120 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 1000+ v1.1119 PC Zornitza Stark Publications for gene: PC were set to
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Prepair 1000+ v1.1117 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Prepair 1000+ v1.1116 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 1000+ v1.1116 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1116 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 1000+ v1.1115 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 1000+ v1.1114 PIGT Zornitza Stark Marked gene: PIGT as ready
Prepair 1000+ v1.1114 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1114 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Prepair 1000+ v1.1113 PIGT Zornitza Stark Publications for gene: PIGT were set to
Prepair 1000+ v1.1112 PKLR Zornitza Stark Marked gene: PKLR as ready
Prepair 1000+ v1.1112 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1112 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency, 266200 (3) to Pyruvate kinase deficiency, MIM#266200
Prepair 1000+ v1.1111 PKLR Zornitza Stark Publications for gene: PKLR were set to
Prepair 1000+ v1.1110 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM#213200 to Spinocerebellar ataxia 2, MIM#213200
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, 213200 (3) to Spinocerebellar ataxia, autosomal recessive 2, MIM#213200
Prepair 1000+ v1.1108 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10, 616420 (3) to Leukodystrophy, hypomyelinating, 10, MIM#616420
Prepair 1000+ v1.1106 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Prepair 1000+ v1.1105 POR Zornitza Stark Marked gene: POR as ready
Prepair 1000+ v1.1105 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Prepair 1000+ v1.1105 POR Zornitza Stark Publications for gene: POR were set to
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type, 215045 (3) to Chondrodysplasia, Blomstrand type (MIM#215045); Eiken syndrome (MIM#600002)
Prepair 1000+ v1.1103 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Prepair 1000+ v1.1102 PTH1R Zornitza Stark Mode of pathogenicity for gene: PTH1R was changed from to None
Prepair 1000+ v1.1101 RCBTB1 Zornitza Stark Tag for review tag was added to gene: RCBTB1.
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Ullrich congenital muscular dystrophy 1, MIM#254090
Prepair 1000+ v1.1100 COL6A3 Zornitza Stark Publications for gene: COL6A3 were set to
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive to Cone-rod dystrophy and hearing loss, MIM#617236
Prepair 1000+ v1.1098 CEP78 Zornitza Stark Publications for gene: CEP78 were set to
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 (3) to Ichthyosis, congenital, autosomal recessive 5, MIM#604777
Prepair 1000+ v1.1096 DGKE Zornitza Stark Marked gene: DGKE as ready
Prepair 1000+ v1.1096 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Prepair 1000+ v1.1096 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008
Prepair 1000+ v1.1095 DGKE Zornitza Stark Publications for gene: DGKE were set to
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Prepair 1000+ v1.1093 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica, MIM#226600
Prepair 1000+ v1.1091 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891
Prepair 1000+ v1.1089 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Prepair 1000+ v1.1088 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1088 DARS Zornitza Stark Marked gene: DARS as ready
Prepair 1000+ v1.1088 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1088 DARS Zornitza Stark Publications for gene: DARS were set to
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398
Prepair 1000+ v1.1085 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Prepair 1000+ v1.1084 ISCA1 Zornitza Stark Tag for review tag was added to gene: ISCA1.
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) to Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900
Prepair 1000+ v1.1083 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444
Prepair 1000+ v1.1081 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Prepair 1000+ v1.1080 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Prepair 1000+ v1.1079 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM#206700
Prepair 1000+ v1.1077 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750
Prepair 1000+ v1.1075 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200
Prepair 1000+ v1.1073 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Prepair 1000+ v1.1072 TAZ Zornitza Stark Marked gene: TAZ as ready
Prepair 1000+ v1.1072 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Prepair 1000+ v1.1072 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome (MIM# 302060)
Prepair 1000+ v1.1071 TAZ Zornitza Stark Publications for gene: TAZ were set to
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
Prepair 1000+ v1.1069 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Prepair 1000+ v1.1068 EDAR Zornitza Stark Marked gene: EDAR as ready
Prepair 1000+ v1.1068 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Prepair 1000+ v1.1068 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Prepair 1000+ v1.1067 EDAR Zornitza Stark Publications for gene: EDAR were set to
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, 300148 (3), X-linked recessive to MEHMO syndrome, MIM# 300148
Prepair 1000+ v1.1065 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Prepair 1000+ v1.1064 PYROXD1 Michelle Torres reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PHYH Michelle Torres reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PEX16 Michelle Torres reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1064 PDHA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 (3) to Dysautonomia, familial MIM#223900; Hereditary sensory and autonomic neuropathy type III (HSAN3)
Prepair 1000+ v1.1063 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Prepair 1000+ v1.1062 EOGT Zornitza Stark Marked gene: EOGT as ready
Prepair 1000+ v1.1062 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1062 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, 615297 (3) to Adams-Oliver syndrome 4, MIM#615297
Prepair 1000+ v1.1061 EOGT Zornitza Stark Publications for gene: EOGT were set to
Prepair 1000+ v1.1060 FANCE Zornitza Stark Marked gene: FANCE as ready
Prepair 1000+ v1.1060 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Prepair 1000+ v1.1060 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901 (3) to Fanconi anaemia, complementation group E, MIM#600901
Prepair 1000+ v1.1059 FANCE Zornitza Stark Publications for gene: FANCE were set to
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
Prepair 1000+ v1.1057 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1, 241550 (3) to Craniometaphyseal dysplasia, autosomal recessive MIM#218400; Oculodentodigital dysplasia, autosomal recessive MIM#257850
Prepair 1000+ v1.1055 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Prepair 1000+ v1.1053 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome, 604213 (3) to Chudley-McCullough syndrome, MIM#604213
Prepair 1000+ v1.1051 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Prepair 1000+ v1.1050 GRHPR Zornitza Stark Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 (3) to Schwartz-Jampel syndrome, type 1, MIM# 255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Prepair 1000+ v1.1048 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Prepair 1000+ v1.1046 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Prepair 1000+ v1.1045 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Publications for gene: IL10RB were set to 22549091
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anaemia, complementation group T, MIM#616435
Prepair 1000+ v1.1042 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212
Prepair 1000+ v1.1040 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Prepair 1000+ v1.1039 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Marked gene: JUP as ready
Prepair 1000+ v1.1039 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Prepair 1000+ v1.1039 ORC6 Michelle Torres reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease, 601214 (3) to Naxos disease MIM#601214
Prepair 1000+ v1.1038 JUP Zornitza Stark Publications for gene: JUP were set to
Prepair 1000+ v1.1037 LDHA Zornitza Stark Marked gene: LDHA as ready
Prepair 1000+ v1.1037 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Prepair 1000+ v1.1037 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from Glycogen storage disease XI, 612933 (3) to Glycogen storage disease XI MIM#612933
Prepair 1000+ v1.1036 LDHA Zornitza Stark Publications for gene: LDHA were set to
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Prepair 1000+ v1.1034 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from Methemoglobinemia, type I, 250800 (3) to Methemoglobinaemia, type II (MIM# 250800)
Prepair 1000+ v1.1032 CYB5R3 Zornitza Stark Publications for gene: CYB5R3 were set to
Prepair 1000+ v1.1031 GALC Zornitza Stark Marked gene: GALC as ready
Prepair 1000+ v1.1031 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1031 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease, 245200 (3) to Krabbe disease, MIM# 245200; MONDO:0009499
Prepair 1000+ v1.1030 GALC Zornitza Stark Publications for gene: GALC were set to
Prepair 1000+ v1.1029 GORAB Zornitza Stark Marked gene: GORAB as ready
Prepair 1000+ v1.1029 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Prepair 1000+ v1.1029 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271
Prepair 1000+ v1.1028 GORAB Zornitza Stark Publications for gene: GORAB were set to
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815
Prepair 1000+ v1.1026 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from Bruck syndrome 2, 609220 (3) to Bruck syndrome 2, MIM#609220
Prepair 1000+ v1.1024 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)
Prepair 1000+ v1.1022 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)
Prepair 1000+ v1.1020 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710); Microcephaly, Amish type (MIM#607196)
Prepair 1000+ v1.1018 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive to Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505); Pontocerebellar hypoplasia, type 1E (MIM# 619303)
Prepair 1000+ v1.1016 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Prepair 1000+ v1.1015 STIL Zornitza Stark Marked gene: STIL as ready
Prepair 1000+ v1.1015 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Prepair 1000+ v1.1015 STIL Zornitza Stark Phenotypes for gene: STIL were changed from Microcephaly 7, primary, autosomal recessive, 612703 (3) to Microcephaly 7, primary, (MIM# 612703)
Prepair 1000+ v1.1014 STIL Zornitza Stark Publications for gene: STIL were set to
Prepair 1000+ v1.1013 SYP Zornitza Stark Marked gene: SYP as ready
Prepair 1000+ v1.1013 SYP Zornitza Stark Gene: syp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1013 SYP Zornitza Stark Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96 (MIM#300802)
Prepair 1000+ v1.1012 SYP Zornitza Stark Publications for gene: SYP were set to
Prepair 1000+ v1.1011 SYP Zornitza Stark reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1011 LIAS Zornitza Stark Marked gene: LIAS as ready
Prepair 1000+ v1.1011 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Prepair 1000+ v1.1011 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) to Hyperglycinaemia, lactic acidosis, and seizures MIM#614462
Prepair 1000+ v1.1010 LIAS Zornitza Stark Publications for gene: LIAS were set to
Prepair 1000+ v1.1009 LPL Zornitza Stark Marked gene: LPL as ready
Prepair 1000+ v1.1009 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1009 LPL Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600
Prepair 1000+ v1.1008 LRBA Zornitza Stark Marked gene: LRBA as ready
Prepair 1000+ v1.1008 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Prepair 1000+ v1.1008 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Prepair 1000+ v1.1007 LRBA Zornitza Stark Publications for gene: LRBA were set to
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, 252650 (3) to Mucolipidosis IV MIM#252650
Prepair 1000+ v1.1005 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Prepair 1000+ v1.1003 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Prepair 1000+ v1.1002 NAGS Zornitza Stark Marked gene: NAGS as ready
Prepair 1000+ v1.1002 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Prepair 1000+ v1.1002 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310
Prepair 1000+ v1.1001 NAGS Zornitza Stark Publications for gene: NAGS were set to
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Prepair 1000+ v1.999 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
Prepair 1000+ v1.997 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800
Prepair 1000+ v1.995 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive to Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)
Prepair 1000+ v1.993 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Prepair 1000+ v1.992 KIAA0586 Ee Ming Wong reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26386044, 28125082, 36580738, 39063141; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546), Joubert syndrome 23 (MIM#616490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NTRK1 Michelle Torres reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NPC1 Michelle Torres reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301473, 32138288; Phenotypes: Niemann-Pick disease, type C1 MIM#257220, Niemann-Pick disease, type D MIM#257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NKX6-2 Michelle Torres reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679, 30285346; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NDUFS7 Michelle Torres reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771, 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAGS Michelle Torres reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MMACHC Michelle Torres reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301503; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCOLN1 Michelle Torres reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33963976, 32604955; Phenotypes: Mucolipidosis IV MIM#252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCCC1 Michelle Torres reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530, 39188588; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LRBA Michelle Torres reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LPL Michelle Torres reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LIAS Michelle Torres reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SYP Ee Ming Wong reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 STIL Ee Ming Wong changed review comment from: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.; to: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of mutant STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.
Prepair 1000+ v1.992 STIL Ee Ming Wong reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157, 29352115, 24485834; Phenotypes: Microcephaly 7, primary, (MIM# 612703); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A46 Ee Ming Wong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27543974, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505), Pontocerebellar hypoplasia, type 1E (MIM# 619303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A19 Ee Ming Wong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC17A5 Ee Ming Wong reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10947946, 5516337, 33862140; Phenotypes: Sialic acid storage disorder, infantile (MIM#269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 22819833, 20835237, 32432520, 22626039, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993), Senior-Loken syndrome 7 (MIM# 613615); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong Deleted their review
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PLOD2 Shakira Heerah reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM#609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 PHGDH Shakira Heerah reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GORAB Clare Hunt reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19681135, 9018419, 18348262; Phenotypes: Geroderma osteodysplasticum, MIM#231070, MONDO:0009271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GALC Clare Hunt reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637, 21070211, 30899093, 24252386; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYB5R3 Ee Ming Wong reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898843, 38303731; Phenotypes: Methemoglobinemia, type II (MIM# 250800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 LAMA2 Lauren Thomas reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LDHA Michelle Torres reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36292720; Phenotypes: Glycogen storage disease XI MIM#612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KCNE1 Michelle Torres reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM#612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 JUP Michelle Torres reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 34587761; Phenotypes: Naxos disease MIM#601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KATNB1 Lauren Thomas reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 UBE2T Ee Ming Wong reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646888, 26119737, 26046368, 26085575; Phenotypes: Fanconi anemia, complementation group T (MIM#616435); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 IL10RB Michelle Torres reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IGHMBP2 Michelle Torres reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34785121, 25439726; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320, Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TBX22 Ee Ming Wong changed review comment from: 1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

2. Abruzzo-Erickson syndrome, MIM# 302905
PMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype; to: 1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

2. Abruzzo-Erickson syndrome, MIM# 302905
PMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype
Prepair 1000+ v1.992 TBX22 Ee Ming Wong reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: None; Publications: 36901693, 22784330, 21375406; Phenotypes: Cleft palate with ankyloglossia (MIM# 303400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 HSPG2 Michelle Torres reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37761893; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GRHPR Michelle Torres reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301742, 28569194; Phenotypes: Hyperoxaluria, primary, type II MIM#260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GPSM2 Michelle Torres reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GLIS3 Michelle Torres reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GJA1 Michelle Torres reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23951358, 29902798, 34035645; Phenotypes: Craniometaphyseal dysplasia, autosomal recessive MIM#218400, Oculodentodigital dysplasia, autosomal recessive MIM#257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 FOXN1 Michelle Torres reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 FANCE Michelle Torres reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anemia, complementation group E MIM#600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EOGT Michelle Torres reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31368252, 23522784, 29924900; Phenotypes: Adams-Oliver syndrome 4 MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ELP1 Clare Hunt changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.
From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31.

From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.
Prepair 1000+ v1.992 ELP1 Clare Hunt changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.
From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.
Prepair 1000+ v1.992 ELP1 Clare Hunt reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179021, 4322121, 16777588, 30905397; Phenotypes: Dysautonomia, familial MIM#223900, Hereditary sensory and autonomic neuropathy type III (HSAN3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2S3 Clare Hunt reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.992 EDAR Clare Hunt changed review comment from: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.; to: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.
Prepair 1000+ v1.992 EDAR Clare Hunt reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.992 ENPP1 Michelle Torres reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36150100; Phenotypes: Arterial calcification, generalized, of infancy, 1 MIM#208000, Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TAZ Ee Ming Wong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 SUMF1 Ee Ming Wong reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30896912; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 DPAGT1 Clare Hunt reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22304930, 22742743, 16870884; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ITPR1 Lauren Thomas reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2B1 Michelle Torres reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745209; Phenotypes: Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DNAI2 Clare Hunt reviewed gene: DNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18950741; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SCARB2 Ee Ming Wong reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677510, 35346091; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure (MIM #254900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 EFNB1 Michelle Torres reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia MIM#304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 ISCA1 Lauren Thomas changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

Most recent case report: PMID 32092383 (4th independent family)
Prepair 1000+ v1.992 ISCA1 Lauren Thomas changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.992 DDX11 Michelle Torres reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30216658; Phenotypes: Warsaw breakage syndrome MIM#613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ISCA1 Lauren Thomas reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28356563, 29767723; Phenotypes: Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DCHS1 Michelle Torres reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1 MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DARS Michelle Torres reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816769; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IL12RB1 Lauren Thomas reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL7A1 Michelle Torres reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31670143, 32506467, 25639640; Phenotypes: Epidermolysis bullosa dystrophica inversa MIM#226600, Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600, Epidermolysis bullosa dystrophica, localisata variant MIM#226600, Epidermolysis bullosa pruriginosa MIM#604129, Epidermolysis bullosa, pretibial MIM#131850, Transient bullous of the newborn MIM#131705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGUOK Clare Hunt reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12874104, 15887277, 23043144; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGKE Clare Hunt reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYP4F22 Clare Hunt reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CEP78 Michelle Torres reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240912; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CNGA3 Michelle Torres reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36980963; Phenotypes: Achromatopsia 2 MIM#216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL6A3 Michelle Torres reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676, 37082441; Phenotypes: Bethlem myopathy 1C MIM#620726, Ullrich congenital muscular dystrophy 1C MIM#620728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RCBTB1 Ee Ming Wong reviewed gene: RCBTB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486781, 33104391, 33624564; Phenotypes: Retinal dystrophy with or without extraocular anomalies (MIM#617175); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PTH1R Ee Ming Wong reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15525660, 17164305, 39276366; Phenotypes: Chondrodysplasia, Blomstrand type (MIM#215045), Eiken syndrome (MIM#600002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 POR Ee Ming Wong changed review comment from: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form
- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.

NB: Only the more severe MIM# has been added to this gene list.; to: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form
- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.
- Congenital onset

NB: Only the more severe MIM# has been added to this gene list.
Prepair 1000+ v1.992 POR Ee Ming Wong reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 20301592, 35842891; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PYCR2 Ee Ming Wong reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating 10 (MIM# 616420); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PMPCA Ee Ming Wong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia 2 (MIM# 213200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PKLR Ee Ming Wong reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535, 32702739; Phenotypes: Pyruvate Kinase deficiency (MIM# 266200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PIGT Ee Ming Wong reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCNT Ee Ming Wong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCDH12 Ee Ming Wong reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PC Ee Ming Wong changed review comment from: - Well-established gene disease association
- Age of onset: neonatal to early childhood
- Severity: variable severity - three subtypes

1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.

2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.

3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic
development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic
acidosis. Life span is unknown but survival into adulthood has been reported.; to: - Well-established gene disease association
- Age of onset: neonatal to early childhood
- Severity: variable severity - three subtypes

1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.

2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.

3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic acidosis. Life span is unknown but survival into adulthood has been reported.
Prepair 1000+ v1.992 PC Ee Ming Wong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657, 20301764; Phenotypes: Pyruvate carboxylase deficiency (MIM#266150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NPR2 Ee Ming Wong reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15146390; Phenotypes: Acromesomelic dysplasia, Maroteaux type (MIM#602875); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NMNAT1 Ee Ming Wong changed review comment from: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.

Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.

Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.

Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature (Amber? MIM# has not been added to review).; to: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.

Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.

Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.

Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature for syndromic LCA (Amber? MIM# has not been added to review).
Prepair 1000+ v1.992 NMNAT1 Ee Ming Wong reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Leber congenital amaurosis 9 (MIM#608553); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CHST14 Michelle Torres edited their review of gene: CHST14: Added comment: Musculocontractural EDS type 1 (mcEDS) is a rare type of EDS caused by biallelic loss-of-function variants in CHST14 (PMID: 34815299).

Major features are: congenital multiple contractures and characteristic craniofacial features at birth or in early infancy; congenital multiple contractures and characteristic cutaneous features in adolescence and in adulthood (PMID: 34815299).

The CHST14 gene has only 1 exon, therefore PTV variants escape NMD. Missense and in-frame deletion have also been reported with a similar phenotype to that caused by PTV (PMID: 34815299).; Changed rating: GREEN
Prepair 1000+ v1.992 CHST14 Michelle Torres reviewed gene: CHST14: Rating: ; Mode of pathogenicity: None; Publications: 34815299; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NFU1 Ee Ming Wong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221, 36256512; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711), Spastic paraplegia 93 (MIM# 620938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CFI Michelle Torres reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942469; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NEK1 Ee Ming Wong reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly (MIM# 263520); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NDUFS6 Ee Ming Wong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NBN Ee Ming Wong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome (MIM#251260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TCAP Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LGMD phenotypes included in panel.
Prepair 1000+ v1.992 TCAP Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf
hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.
Prepair 1000+ v1.992 TCAP Crystle Lee edited their review of gene: TCAP: Changed rating: GREEN
Prepair 1000+ v1.992 TCAP Crystle Lee reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216648, 25724973; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NANS Ee Ming Wong reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NALCN Ee Ming Wong reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749988, 24075186, 3016785; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TBC1D24 Crystle Lee reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27281533, 25719194; Phenotypes: Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAA10 Ee Ming Wong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522270, 34200686, 37130971, 30842225, 2443133134075687; Phenotypes: Ogden syndrome (MIM#300855), Syndromic microphthalmia 1 (MIM#309800); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Prepair 1000+ v1.992 STX11 Crystle Lee reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486178, 16582076; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SQSTM1 Crystle Lee reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679, 39214971; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SLC12A6 Crystle Lee reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34706912; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SDHAF1 Crystle Lee reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM#619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RMND1 Crystle Lee reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MTR Ee Ming Wong reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RFXANK Crystle Lee reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875002; Phenotypes: MHC class II deficiency 2, MIM#620815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RDH12 Crystle Lee reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31884613, 19011012, 28471114, 34031043, 35491887; Phenotypes: Leber congenital amaurosis 13, MIM#612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MOCS1 Ee Ming Wong reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 9731530; Phenotypes: Molybdenum cofactor deficiency A (MIM#252150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RARS2 Crystle Lee reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38009286, 29881806; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EARS2 Lilian Downie Marked gene: EARS2 as ready
Prepair 1000+ v1.992 EARS2 Lilian Downie Gene: ears2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.992 EARS2 Lilian Downie Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 (3) to Combined oxidative phosphorylation deficiency 12 MIM#614924
Prepair 1000+ v1.991 EARS2 Lilian Downie Publications for gene: EARS2 were set to
Prepair 1000+ v1.990 EARS2 Lilian Downie reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 39173847; Phenotypes: Combined oxidative phosphorylation deficiency 12 MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.990 DYM Lilian Downie Marked gene: DYM as ready
Prepair 1000+ v1.990 DYM Lilian Downie Gene: dym has been classified as Green List (High Evidence).
Prepair 1000+ v1.990 DYM Lilian Downie Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326
Prepair 1000+ v1.989 DYM Lilian Downie Publications for gene: DYM were set to
Prepair 1000+ v1.988 DYM Lilian Downie reviewed gene: DYM: Rating: ; Mode of pathogenicity: None; Publications: 16326827, 38860472, 35477554; Phenotypes: Dyggve-Melchior-Clausen disease MIM#223800, Smith-McCort dysplasia MIM#607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.988 DKC1 Lilian Downie Marked gene: DKC1 as ready
Prepair 1000+ v1.988 DKC1 Lilian Downie Gene: dkc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.988 DKC1 Lilian Downie Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, 305000 (3) to Dyskeratosis congenita, X-linked MIM#305000
Prepair 1000+ v1.987 DKC1 Lilian Downie Publications for gene: DKC1 were set to
Prepair 1000+ v1.986 DKC1 Lilian Downie reviewed gene: DKC1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301779; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.986 DCAF17 Lilian Downie Marked gene: DCAF17 as ready
Prepair 1000+ v1.986 DCAF17 Lilian Downie Gene: dcaf17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.986 DCAF17 Lilian Downie Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 (3) to Woodhouse-Sakati syndrome MIM#241080
Prepair 1000+ v1.985 DCAF17 Lilian Downie Publications for gene: DCAF17 were set to
Prepair 1000+ v1.984 DCAF17 Lilian Downie reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TMEM107 Kate Scarff reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26518474, 26595381, 26123494; Phenotypes: Orofaciodigital syndrome XVI, MIM #617563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TAP1 Kate Scarff reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30189467, 10074494, 28161407, 36839544, 16087697, 10931128; Phenotypes: MHC class I deficiency 1, MIM #604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SPATA7 Kate Scarff reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM #604232, Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20118786, 21203343, 26451371, 17220209, 32884076; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD), Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff Deleted their review
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400, Corneal endothelial dystrophy, MIM #217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC35D1 Kate Scarff reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17952091, 19508970, 31423530, 38058750, 35934917; Phenotypes: Schneckenbecken dysplasia, MIM #269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC25A38 Kate Scarff reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34298585, 19412178; Phenotypes: Anemia, sideroblastic, 1, MIM #300751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC16A2 Kate Scarff reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301789, 20083155, 15980113; Phenotypes: Allan-Herndon-Dudley syndrome, MIM #300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 RP2 Kate Scarff reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10053026, 11462235, 22131869, 8225316, 26143542, 16969763, 14564670; Phenotypes: Retinitis pigmentosa 2, MIM #312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.984 WWOX Zornitza Stark Marked gene: WWOX as ready
Prepair 1000+ v1.984 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Prepair 1000+ v1.984 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Prepair 1000+ v1.983 WWOX Zornitza Stark Publications for gene: WWOX were set to
Prepair 1000+ v1.982 WWOX Zornitza Stark edited their review of gene: WWOX: Changed publications: 33916893
Prepair 1000+ v1.982 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.982 XPA Zornitza Stark Marked gene: XPA as ready
Prepair 1000+ v1.982 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Prepair 1000+ v1.982 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700
Prepair 1000+ v1.981 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; Restrictive dermopathy, lethal, MIM# 275210
Prepair 1000+ v1.980 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, Restrictive dermopathy, lethal, MIM# 275210
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Marked gene: ZNF711 as ready
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Gene: znf711 has been classified as Green List (High Evidence).
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97, 300803 (3) to Intellectual developmental disorder, X-linked 97, MIM# 300803
Prepair 1000+ v1.978 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 RBCK1 Kate Scarff changed review comment from: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus
of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single
families (PMID: 29260357).; to: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single families (PMID: 29260357).
Prepair 1000+ v1.978 RBCK1 Kate Scarff reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23104095, 23798481, 32187699, 23889995, 29260357; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RAX Kate Scarff reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14662654, 18783408, 30811539, 24033328, 22736936, 28831107; Phenotypes: Microphthalmia, syndromic 16, MIM #611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RARS Kate Scarff reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31814314, 28905880, 24777941; Phenotypes: Leukodystrophy, hypomyelinating, 9, MIM #616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RAB39B Kate Scarff reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25434005, 34761259, 29152164, 20159109; Phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 RAB33B Kate Scarff reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35477554, 34000439, 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2, MIM #615222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PSAP Kate Scarff reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10682309, 30632081, 11309366, 19267410, 8554069; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NNT Marta Cifuentes Ochoa reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 37352919, 26548497, 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736, MONDO:0013874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NARS2 Marta Cifuentes Ochoa reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841, 36252909, 33596490, 38310242; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547, ?Deafness, autosomal recessive 94 - MIM#618434, MONDO:0032749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PIH1D3 Kate Scarff reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28176794, 28041644, 20301301; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked, MIM #300991; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 MMP21 Marta Cifuentes Ochoa reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26429889, 26437028, 26437029, 36123719, 33240936; Phenotypes: Heterotaxy, visceral, 7, autosomal MIM#616749, MONDO:0014762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 MID1 Marta Cifuentes Ochoa reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301502, 9354791; Phenotypes: Opitz GBBB syndrome MIM#300000, MONDO:0017138; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 PGAP3 Kate Scarff reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 MFSD8 Marta Cifuentes Ochoa reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500, 30382371, 35154277; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PEX1 Kate Scarff reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301621, 9398847, 17055079; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PGAP2 Shakira Heerah changed review comment from: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.; to: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.
Prepair 1000+ v1.978 PGAP2 Shakira Heerah changed review comment from: Strong gene-disease association, multiple unrelated families reported severe intellectual disability..; to: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.
Prepair 1000+ v1.978 PGAP2 Shakira Heerah reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PGAP2 Shakira Heerah Deleted their review
Prepair 1000+ v1.978 PGAP2 Shakira Heerah reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PEX2 Shakira Heerah reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866, Peroxisome biogenesis disorder 5B, MIM#614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PDHB Kate Scarff reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15138885, 18164639, 26865159, 19924563, 34138529; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM #614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 KRT8 Shakira Heerah reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528, 9011570; Phenotypes: Cirrhosis, cryptogenic, MIM#215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Prepair 1000+ v1.978 PAPSS2 Kate Scarff reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM #612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NSDHL Kate Scarff changed review comment from: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome.

Other phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.; to: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome.

Other phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.

See also GeneReviews PMID: 21290788
Prepair 1000+ v1.978 NSDHL Kate Scarff reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19842190, 21129721, 34091503, 23042573; Phenotypes: CK syndrome, MIM #300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 XYLT1 Shakira Heerah reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343, 39273648; Phenotypes: Desbuquois dysplasia 2, MIM#615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NEXMIF Kate Scarff reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180, 33144681; Phenotypes: Intellectual developmental disorder, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 NEU1 Kate Scarff reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11063730, 8985184, 9054950, 39194692; Phenotypes: Sialidosis, type I, MIM #256550, Sialidosis, type II, MIM #256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NDUFS2 Kate Scarff reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM #618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 FBXO7 Zornitza Stark Marked gene: FBXO7 as ready
Prepair 1000+ v1.978 FBXO7 Zornitza Stark Gene: fbxo7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.978 FBXO7 Zornitza Stark Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive, 260300 (3) to Parkinson disease 15, autosomal recessive, MIM#260300
Prepair 1000+ v1.977 FBXO7 Zornitza Stark Publications for gene: FBXO7 were set to
Prepair 1000+ v1.976 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Prepair 1000+ v1.976 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.976 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, type A, 216400 (3) to Cockayne syndrome, type A, MIM#216400
Prepair 1000+ v1.975 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.975 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Prepair 1000+ v1.975 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.975 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Prepair 1000+ v1.974 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Prepair 1000+ v1.973 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Prepair 1000+ v1.973 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.973 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from Nephronophthisis 19, 616217 (3) to Nephronophthisis 19, MIM #616217; Sclerosing cholangitis, neonatal, MIM #617394
Prepair 1000+ v1.972 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Prepair 1000+ v1.971 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Prepair 1000+ v1.971 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Prepair 1000+ v1.971 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Prepair 1000+ v1.970 CWC27 Zornitza Stark Publications for gene: CWC27 were set to
Prepair 1000+ v1.969 CTSF Zornitza Stark Tag for review tag was added to gene: CTSF.
Prepair 1000+ v1.969 CYBA Lilian Downie Marked gene: CYBA as ready
Prepair 1000+ v1.969 CYBA Lilian Downie Gene: cyba has been classified as Green List (High Evidence).
Prepair 1000+ v1.969 CYBA Lilian Downie Phenotypes for gene: CYBA were changed from Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) to Chronic granulomatous disease 4 MIM#233690
Prepair 1000+ v1.968 CYBA Lilian Downie Publications for gene: CYBA were set to
Prepair 1000+ v1.967 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Prepair 1000+ v1.967 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.967 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982 (3) to Bardet-Biedl syndrome 4, MIM#615982
Prepair 1000+ v1.966 CYBA Lilian Downie reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22876374; Phenotypes: Chronic granulomatous disease 4 MIM#233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.966 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.966 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Prepair 1000+ v1.966 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.966 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981 (3) to Bardet-Biedl syndrome 2, MIM# 615981
Prepair 1000+ v1.965 BBS2 Zornitza Stark reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.965 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Prepair 1000+ v1.965 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.965 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, 215700 (3) to Citrullinaemia MIM# 215700
Prepair 1000+ v1.964 ASS1 Zornitza Stark Publications for gene: ASS1 were set to
Prepair 1000+ v1.963 ARX Zornitza Stark Marked gene: ARX as ready
Prepair 1000+ v1.963 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Prepair 1000+ v1.963 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia, 300215 (3) to Developmental and epileptic encephalopathy 1, MIM#30835; Hydranencephaly with abnormal genitalia, MIM#300215; Intellectual developmental disorder, X-linked 29, MIM#300419; Lissencephaly, X-linked 2, MIM#300215; Partington syndrome, MIM#309510; Proud syndrome, MIM#300004
Prepair 1000+ v1.962 ARX Zornitza Stark Publications for gene: ARX were set to
Prepair 1000+ v1.961 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 1 MIM#308350, Hydranencephaly with abnormal genitalia MIM#300215, Lissencephaly, X-linked 2 MIM#300215, Intellectual disability, X-linked 29 and others MIM#300419, Partington syndrome MIM#309510, Proud syndrome MIM#300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.961 CHRNE Lilian Downie Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) to Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809; Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931
Prepair 1000+ v1.960 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Prepair 1000+ v1.960 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.960 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik, 608540 (3) to Congenital disorder of glycosylation, type Ik, MIM# 608540
Prepair 1000+ v1.959 CHRNE Lilian Downie Publications for gene: CHRNE were set to
Prepair 1000+ v1.958 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Prepair 1000+ v1.957 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Prepair 1000+ v1.957 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Prepair 1000+ v1.957 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, 229600 (3) to Fructose intolerance, hereditary, MIM# 229600
Prepair 1000+ v1.956 ALDOB Zornitza Stark Publications for gene: ALDOB were set to
Prepair 1000+ v1.955 CD40LG Lilian Downie Publications for gene: CD40LG were set to
Prepair 1000+ v1.954 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Prepair 1000+ v1.954 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.954 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, 271980 (3) to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Prepair 1000+ v1.953 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Prepair 1000+ v1.952 COQ8B Lilian Downie Marked gene: COQ8B as ready
Prepair 1000+ v1.952 COQ8B Lilian Downie Gene: coq8b has been classified as Green List (High Evidence).
Prepair 1000+ v1.952 COQ8B Lilian Downie Publications for gene: COQ8B were set to
Prepair 1000+ v1.951 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Prepair 1000+ v1.951 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.951 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C, 605472 (3) to Usher syndrome, type 2C, MIM# 605472
Prepair 1000+ v1.950 COQ8B Lilian Downie reviewed gene: COQ8B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 35483523; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.950 ADGRV1 Zornitza Stark Publications for gene: ADGRV1 were set to
Prepair 1000+ v1.949 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Prepair 1000+ v1.949 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.949 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal, 606854 (3) to Polymicrogyria, bilateral frontoparietal, MIM#606854
Prepair 1000+ v1.948 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Prepair 1000+ v1.947 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Prepair 1000+ v1.947 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.947 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa, childhood-onset, 615688 (3) to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Prepair 1000+ v1.946 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Prepair 1000+ v1.945 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Prepair 1000+ v1.945 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.945 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154
Prepair 1000+ v1.944 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Prepair 1000+ v1.943 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Prepair 1000+ v1.943 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.943 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780 (3) to Cenani-Lenz syndactyly syndrome, MIM #212780
Prepair 1000+ v1.942 CHRNE Lilian Downie Marked gene: CHRNE as ready
Prepair 1000+ v1.942 CHRNE Lilian Downie Gene: chrne has been classified as Green List (High Evidence).
Prepair 1000+ v1.942 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Prepair 1000+ v1.941 CHRNE Lilian Downie reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301347; Phenotypes: Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809, Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.941 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Prepair 1000+ v1.941 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.941 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from Mental retardation, autosomal recessive 57, 617188 (3) to Intellectual developmental disorder, autosomal recessive 57, MIM #617188
Prepair 1000+ v1.940 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Prepair 1000+ v1.939 MC2R Zornitza Stark Marked gene: MC2R as ready
Prepair 1000+ v1.939 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Prepair 1000+ v1.939 MC2R Zornitza Stark Phenotypes for gene: MC2R were changed from Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200
Prepair 1000+ v1.938 MC2R Zornitza Stark Publications for gene: MC2R were set to
Prepair 1000+ v1.937 MRAP Zornitza Stark Marked gene: MRAP as ready
Prepair 1000+ v1.937 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Prepair 1000+ v1.937 MRAP Zornitza Stark Phenotypes for gene: MRAP were changed from Glucocorticoid deficiency 2, 607398 (3) to Glucocorticoid deficiency 2, MIM #607398
Prepair 1000+ v1.936 MRAP Zornitza Stark Publications for gene: MRAP were set to
Prepair 1000+ v1.935 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Prepair 1000+ v1.935 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.935 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) to Spondylocostal dysostosis 2, MIM #608681
Prepair 1000+ v1.934 CD40LG Lilian Downie Marked gene: CD40LG as ready
Prepair 1000+ v1.934 CD40LG Lilian Downie Gene: cd40lg has been classified as Green List (High Evidence).
Prepair 1000+ v1.934 CD40LG Lilian Downie reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.934 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Prepair 1000+ v1.933 MTRR Zornitza Stark Marked gene: MTRR as ready
Prepair 1000+ v1.933 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Prepair 1000+ v1.933 MTRR Zornitza Stark Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) to Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270
Prepair 1000+ v1.932 MTRR Zornitza Stark Publications for gene: MTRR were set to
Prepair 1000+ v1.931 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Prepair 1000+ v1.931 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.931 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Prepair 1000+ v1.930 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.929 TF Zornitza Stark Marked gene: TF as ready
Prepair 1000+ v1.929 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Prepair 1000+ v1.929 TF Zornitza Stark Phenotypes for gene: TF were changed from Atransferrinemia MIM#209300 to Atransferrinaemia MIM#209300
Prepair 1000+ v1.928 TF Zornitza Stark Phenotypes for gene: TF were changed from Atransferrinemia, 209300 (3) to Atransferrinemia MIM#209300
Prepair 1000+ v1.927 TF Zornitza Stark Publications for gene: TF were set to
Prepair 1000+ v1.926 NBAS Zornitza Stark Marked gene: NBAS as ready
Prepair 1000+ v1.926 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Prepair 1000+ v1.926 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3) to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800; Infantile liver failure syndrome 2, MIM#616483
Prepair 1000+ v1.925 NBAS Zornitza Stark Publications for gene: NBAS were set to 20577004; 26073778
Prepair 1000+ v1.924 NBAS Zornitza Stark reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761904; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800, Infantile liver failure syndrome 2, MIM#616483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.924 NBAS Zornitza Stark Publications for gene: NBAS were set to
Prepair 1000+ v1.923 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Prepair 1000+ v1.923 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.923 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Prepair 1000+ v1.922 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Prepair 1000+ v1.921 OCLN Zornitza Stark Marked gene: OCLN as ready
Prepair 1000+ v1.921 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Prepair 1000+ v1.921 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria, 251290 (3) to Pseudo-TORCH syndrome 1, MIM#251290
Prepair 1000+ v1.920 OCLN Zornitza Stark Publications for gene: OCLN were set to
Prepair 1000+ v1.919 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.919 PIGO Zornitza Stark Marked gene: PIGO as ready
Prepair 1000+ v1.919 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Prepair 1000+ v1.919 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, 614749 (3) to Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749
Prepair 1000+ v1.918 PIGO Zornitza Stark Publications for gene: PIGO were set to
Prepair 1000+ v1.917 COX10 Zornitza Stark Marked gene: COX10 as ready
Prepair 1000+ v1.917 COX10 Zornitza Stark Gene: cox10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.917 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Prepair 1000+ v1.916 COX10 Zornitza Stark Publications for gene: COX10 were set to
Prepair 1000+ v1.915 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Prepair 1000+ v1.915 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.915 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, 602450 (3) to Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554
Prepair 1000+ v1.914 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to
Prepair 1000+ v1.913 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Prepair 1000+ v1.913 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.913 PROP1 Zornitza Stark Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2, 262600 (3) to Pituitary hormone deficiency, combined, 2, MIM#262600
Prepair 1000+ v1.912 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Prepair 1000+ v1.912 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.912 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Prepair 1000+ v1.911 ELP2 Zornitza Stark Marked gene: ELP2 as ready
Prepair 1000+ v1.911 ELP2 Zornitza Stark Gene: elp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.911 ELP2 Zornitza Stark Phenotypes for gene: ELP2 were changed from Mental retardation, autosomal recessive 58, 617270 (3) to Intellectual developmental disorder, autosomal recessive 58, MIM# 617270
Prepair 1000+ v1.910 ELP2 Zornitza Stark Publications for gene: ELP2 were set to
Prepair 1000+ v1.909 EMD Zornitza Stark Marked gene: EMD as ready
Prepair 1000+ v1.909 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Prepair 1000+ v1.909 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300
Prepair 1000+ v1.908 EMD Zornitza Stark Publications for gene: EMD were set to
Prepair 1000+ v1.907 ETFB Zornitza Stark Marked gene: ETFB as ready
Prepair 1000+ v1.907 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Prepair 1000+ v1.907 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, MIM# 231680 to Glutaric acidaemia IIB, MIM# 231680
Prepair 1000+ v1.906 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, 231680 (3) to Glutaric acidemia IIB, MIM# 231680
Prepair 1000+ v1.905 ETFB Zornitza Stark Publications for gene: ETFB were set to
Prepair 1000+ v1.904 NAXE Kate Scarff reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27122014, 27616477, 31758406, 34678889, 35637064, 39455596; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.904 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Prepair 1000+ v1.904 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.904 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Prepair 1000+ v1.903 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Prepair 1000+ v1.902 FH Zornitza Stark Marked gene: FH as ready
Prepair 1000+ v1.902 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Prepair 1000+ v1.902 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, 606812 (3) to Fumarase deficiency, MIM# 606812
Prepair 1000+ v1.901 FH Zornitza Stark Publications for gene: FH were set to
Prepair 1000+ v1.900 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Prepair 1000+ v1.900 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.900 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241
Prepair 1000+ v1.899 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Prepair 1000+ v1.898 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Prepair 1000+ v1.898 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.898 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 (3) to Spastic paraplegia 46, autosomal recessive, MIM# 614409
Prepair 1000+ v1.897 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Prepair 1000+ v1.896 GUSB Zornitza Stark Marked gene: GUSB as ready
Prepair 1000+ v1.896 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Prepair 1000+ v1.896 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII, 253220 (3) to Mucopolysaccharidosis VII, MIM# 253220
Prepair 1000+ v1.895 GUSB Zornitza Stark Publications for gene: GUSB were set to
Prepair 1000+ v1.894 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Prepair 1000+ v1.894 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.894 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6, 614075 (3) to Hermansky-Pudlak syndrome 6, MIM# 614075
Prepair 1000+ v1.893 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Prepair 1000+ v1.892 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MTRR Kate Scarff reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301503, 12555939, 15714522, 9501215; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MESP2 Kate Scarff reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18485326, 15122512, 20301771; Phenotypes: Spondylocostal dysostosis 2, MIM #608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MRAP Kate Scarff reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15654338, 34271604, 38796770, 36777708, 30817990; Phenotypes: Glucocorticoid deficiency 2, MIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MC2R Kate Scarff reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38796770, 8094489, 8227361, 35506146; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MBOAT7 Kate Scarff reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23097495, 27616480, 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: Intellectual developmental disorder, autosomal recessive 57, MIM #617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 LRP4 Kate Scarff reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23636941, 20381006, 23664847, 30041615; Phenotypes: Cenani-Lenz syndactyly syndrome, MIM #212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 LARGE1 Kate Scarff reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12966029, 19067344, 21248746, 17436019, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 GUCY2D Zornitza Stark Marked gene: GUCY2D as ready
Prepair 1000+ v1.892 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Prepair 1000+ v1.892 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from Leber congenital amaurosis 1, 204000 (3) to Leber congenital amaurosis 1, MIM#204000
Prepair 1000+ v1.891 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Prepair 1000+ v1.890 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Prepair 1000+ v1.890 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.890 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal recessive 5, 615190 (3) to Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Prepair 1000+ v1.889 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Prepair 1000+ v1.888 SACS Zornitza Stark Marked gene: SACS as ready
Prepair 1000+ v1.888 SACS Zornitza Stark Added comment: Comment when marking as ready: There is also a relatively common CNV.
Prepair 1000+ v1.888 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Prepair 1000+ v1.888 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) to Spastic ataxia, Charlevoix-Saguenay type, MIM#270550
Prepair 1000+ v1.887 SACS Zornitza Stark Publications for gene: SACS were set to
Prepair 1000+ v1.886 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Prepair 1000+ v1.886 PIGG Zornitza Stark Marked gene: PIGG as ready
Prepair 1000+ v1.886 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Prepair 1000+ v1.886 PIGG Zornitza Stark Publications for gene: PIGG were set to
Prepair 1000+ v1.885 PIGG Zornitza Stark reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.885 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Prepair 1000+ v1.885 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.885 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) to Neutropenia, severe congenital 3, autosomal recessive, MIM#610738
Prepair 1000+ v1.884 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Prepair 1000+ v1.883 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Prepair 1000+ v1.883 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.883 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4, 614073 (3) to Hermansky-Pudlak syndrome 4, MIM #614073
Prepair 1000+ v1.882 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Prepair 1000+ v1.881 INPPL1 Zornitza Stark Marked gene: INPPL1 as ready
Prepair 1000+ v1.881 INPPL1 Zornitza Stark Gene: inppl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.881 INPPL1 Zornitza Stark Phenotypes for gene: INPPL1 were changed from Opsismodysplasia, 258480 (3) to Opsismodysplasia MIM #258480
Prepair 1000+ v1.880 INPPL1 Zornitza Stark Publications for gene: INPPL1 were set to
Prepair 1000+ v1.879 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Prepair 1000+ v1.879 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.879 KIF14 Zornitza Stark Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914 (3) to Microcephaly 20, primary, autosomal recessive, MIM #617914
Prepair 1000+ v1.878 KIF14 Zornitza Stark Publications for gene: KIF14 were set to
Prepair 1000+ v1.877 KIF14 Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.877 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Prepair 1000+ v1.877 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.877 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from Cortical malformations, occipital, 614115 (3) to Cortical malformations, occipital, MIM #614115
Prepair 1000+ v1.876 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Prepair 1000+ v1.875 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Prepair 1000+ v1.875 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.875 RIPK4 Zornitza Stark Phenotypes for gene: RIPK4 were changed from Popliteal pterygium syndrome 2, lethal type, 263650 (3) to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
Prepair 1000+ v1.874 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to
Prepair 1000+ v1.873 XIAP Zornitza Stark Marked gene: XIAP as ready
Prepair 1000+ v1.873 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Prepair 1000+ v1.873 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from Lymphoproliferative syndrome, X-linked, 2, 300635 (3) to Lymphoproliferative syndorme, X-linked, 2 MIM#300635
Prepair 1000+ v1.872 XIAP Zornitza Stark Publications for gene: XIAP were set to
Prepair 1000+ v1.871 C1QB Zornitza Stark Marked gene: C1QB as ready
Prepair 1000+ v1.871 C1QB Zornitza Stark Gene: c1qb has been classified as Green List (High Evidence).
Prepair 1000+ v1.871 C1QB Zornitza Stark Phenotypes for gene: C1QB were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652
Prepair 1000+ v1.870 C1QB Zornitza Stark reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, 614615 (3) to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170
Prepair 1000+ v1.869 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Prepair 1000+ v1.868 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Prepair 1000+ v1.868 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.868 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Prepair 1000+ v1.868 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.868 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from Mental retardation, autosomal recessive 3, 608443 (3) to Intellectual developmental disorder, autosomal recessive 3, MIM# 608443
Prepair 1000+ v1.867 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Prepair 1000+ v1.866 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Intellectual developmental disorder, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.866 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Prepair 1000+ v1.866 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.866 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Prepair 1000+ v1.865 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Prepair 1000+ v1.864 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.864 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Prepair 1000+ v1.864 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Prepair 1000+ v1.864 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3) to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Prepair 1000+ v1.863 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Prepair 1000+ v1.862 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.862 CFD Zornitza Stark Marked gene: CFD as ready
Prepair 1000+ v1.862 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
Prepair 1000+ v1.862 CFD Zornitza Stark Phenotypes for gene: CFD were changed from Complement factor D deficiency, 613912 (3) to Complement factor D deficiency, MIM# 613912
Prepair 1000+ v1.861 CFD Zornitza Stark Publications for gene: CFD were set to
Prepair 1000+ v1.860 CFD Zornitza Stark reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.860 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Prepair 1000+ v1.860 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.860 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, 605282 (3) to Temtamy preaxial brachydactyly syndrome, MIM# 605282
Prepair 1000+ v1.859 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Prepair 1000+ v1.858 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.858 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Prepair 1000+ v1.858 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.858 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease, 300009 (3) to Dent disease, MIM#300009
Prepair 1000+ v1.857 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.857 CLMP Zornitza Stark Marked gene: CLMP as ready
Prepair 1000+ v1.857 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Prepair 1000+ v1.857 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from Congenital short bowel syndrome, 615237 (3) to Congenital short bowel syndrome , MIM#615237
Prepair 1000+ v1.856 CLMP Zornitza Stark Publications for gene: CLMP were set to
Prepair 1000+ v1.855 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.855 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Prepair 1000+ v1.855 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.855 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Bethlem myopathy 1B, MIM# 620725; Ullrich congenital muscular dystrophy 1B, MIM# 620727
Prepair 1000+ v1.854 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1B, MIM# 620725, Ullrich congenital muscular dystrophy 1B, MIM# 620727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.854 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Prepair 1000+ v1.854 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Prepair 1000+ v1.854 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) to Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354
Prepair 1000+ v1.853 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Prepair 1000+ v1.852 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.852 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Prepair 1000+ v1.852 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Prepair 1000+ v1.852 DENND5A Zornitza Stark Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Prepair 1000+ v1.851 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Prepair 1000+ v1.850 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.850 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Prepair 1000+ v1.850 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.850 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Ciliary dyskinesia, primary, 13, 613193 (3) to Ciliary dyskinesia, primary, 13, MIM# 613193
Prepair 1000+ v1.849 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Prepair 1000+ v1.848 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.848 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Prepair 1000+ v1.848 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.848 DNAJC12 Zornitza Stark Phenotypes for gene: DNAJC12 were changed from Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Prepair 1000+ v1.847 DNAJC12 Zornitza Stark reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.847 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Prepair 1000+ v1.847 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.847 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from Combined oxidative phosphorylation deficiency 17, 615440 (3) to Combined oxidative phosphorylation deficiency 17, MIM#615440
Prepair 1000+ v1.846 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Prepair 1000+ v1.845 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Prepair 1000+ v1.844 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Prepair 1000+ v1.843 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.843 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Prepair 1000+ v1.843 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.843 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 (3) to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Prepair 1000+ v1.842 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Prepair 1000+ v1.841 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.841 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Prepair 1000+ v1.841 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.841 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from Aphakia, congenital primary, 610256 (3) to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Prepair 1000+ v1.840 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Prepair 1000+ v1.839 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.839 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Prepair 1000+ v1.839 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.839 FRRS1L Zornitza Stark Phenotypes for gene: FRRS1L were changed from Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive to Epileptic encephalopathy, early infantile, 37, MIM#616981
Prepair 1000+ v1.838 FRRS1L Zornitza Stark Publications for gene: FRRS1L were set to
Prepair 1000+ v1.837 FRRS1L Zornitza Stark reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236917, 27239025, 30692144; Phenotypes: Developmental and epileptic encephalopathy, 37 MONDO:0014859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 XIAP Shakira Heerah reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndorme, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.837 RIPK4 Shakira Heerah reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488, 28416941; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 LAMC3 Kate Scarff reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34354730, 21572413, 29247375, 26802095; Phenotypes: Cortical malformations, occipital, MIM #614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 KIF14 Kate Scarff reviewed gene: KIF14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29343805, 28892560, 24128419; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 INPPL1 Kate Scarff reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23273569, 23273567, 34529350; Phenotypes: Opsismodysplasia MIM #258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 HPS4 Kate Scarff reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12664304, 11836498; Phenotypes: Hermansky-Pudlak syndrome 4, MIM #614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 HAX1 Kate Scarff changed review comment from: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities; to: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities.
MIM #610738
Prepair 1000+ v1.837 HAX1 Kate Scarff reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17187068, 18611981; Phenotypes: Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, 616917 (3) to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Prepair 1000+ v1.836 SACS Cassandra Muller reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 14718706, 12873855]; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 RTEL1 Cassandra Muller reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GUCY2D Kate Scarff changed review comment from: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Cone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+.
Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).; to: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Cone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+. See PMID: 35205358
Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).
Prepair 1000+ v1.836 GUCY2D Kate Scarff reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15024725, 35314386; Phenotypes: Leber congenital amaurosis 1, MIM #204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 HPS6 Lauren Thomas reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 12548288, 17041891; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GUSB Lauren Thomas reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31661765, 32063397; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GBA2 Lauren Thomas reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FOXRED1 Lauren Thomas reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441, 20858599; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FH Lauren Thomas reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8200987, 20549362, 31746132, 20301679; Phenotypes: Fumarase deficiency, MIM# 606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FBXL4 Lauren Thomas reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506, 23993194; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 ETFB Lauren Thomas reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: None
Prepair 1000+ v1.836 EMD Lauren Thomas reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856, 31802929, 31645980; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.836 ELP2 Lauren Thomas reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: Intellectual developmental disorder, autosomal recessive 58, MIM# 617270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 DOCK6 Lauren Thomas reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM# 614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PROP1 Cassandra Muller reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2, 262600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 DCLRE1C Lauren Thomas reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type, MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 COX10 Lauren Thomas reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PIGO Cassandra Muller reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PIGO Cassandra Muller Deleted their review
Prepair 1000+ v1.836 PIGO Cassandra Muller reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 OCLN Cassandra Muller reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516; Phenotypes: Pseudo-TORCH syndrome 1, 251290 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 NHEJ1 Cassandra Muller reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205, 37703920; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 NBAS Cassandra Muller reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Infantile liver failure syndrome 2, 616483 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 TF Lucy Spencer reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32028041; Phenotypes: Atransferrinemia MIM#209300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PRPS1 Lucy Spencer reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPS1 deficiency disorder MONDO:0100061, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.836 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Prepair 1000+ v1.836 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.836 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from Kindler syndrome, 173650 (3) to Kindler syndrome, MIM#173650
Prepair 1000+ v1.835 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Prepair 1000+ v1.834 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Prepair 1000+ v1.834 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.834 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, 227300 (3) to Combined factor V and VIII deficiency, MIM#227300
Prepair 1000+ v1.833 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Prepair 1000+ v1.832 LMAN1 Lucy Spencer reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852824; Phenotypes: Combined factor V and VIII deficiency MIM#227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.832 TSHB Zornitza Stark Marked gene: TSHB as ready
Prepair 1000+ v1.832 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Prepair 1000+ v1.832 TSHB Zornitza Stark Publications for gene: TSHB were set to
Prepair 1000+ v1.831 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Prepair 1000+ v1.831 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Prepair 1000+ v1.831 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A, 277470 (3) to Pontocerebellar hypoplasia type 2A (MIM#277470); Pontocerebellar hypoplasia type 4 (MIM#225753)
Prepair 1000+ v1.830 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Prepair 1000+ v1.829 TPRKB Zornitza Stark Tag for review tag was added to gene: TPRKB.
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.829 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 (3) to D-2-hydroxyglutaric aciduria, MIM#600721
Prepair 1000+ v1.828 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Prepair 1000+ v1.827 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Prepair 1000+ v1.827 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.827 CYP11B2 Zornitza Stark Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400
Prepair 1000+ v1.826 CYP11B2 Zornitza Stark Publications for gene: CYP11B2 were set to
Prepair 1000+ v1.825 GJB1 Lucy Spencer reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301548; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.825 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Prepair 1000+ v1.825 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.825 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome 1, 273750 (3) to 3-M syndrome 1, MIM#273750
Prepair 1000+ v1.824 CUL7 Zornitza Stark Publications for gene: CUL7 were set to
Prepair 1000+ v1.823 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Prepair 1000+ v1.823 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.823 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Prepair 1000+ v1.822 CLDN19 Zornitza Stark Publications for gene: CLDN19 were set to
Prepair 1000+ v1.821 WHRN Zornitza Stark Marked gene: WHRN as ready
Prepair 1000+ v1.821 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Prepair 1000+ v1.821 WHRN Zornitza Stark Phenotypes for gene: WHRN were changed from Usher syndrome, type 2D, 611383 (3) to Usher syndrome, type 2D, MIM#611383
Prepair 1000+ v1.820 WHRN Zornitza Stark Publications for gene: WHRN were set to
Prepair 1000+ v1.819 FERMT1 Lucy Spencer reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26937547; Phenotypes: Kindler syndrome MIM#173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.819 MYMK Zornitza Stark Marked gene: MYMK as ready
Prepair 1000+ v1.819 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Prepair 1000+ v1.819 MYMK Zornitza Stark Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive to Carey-Fineman-Ziter syndrome, MIM#254940
Prepair 1000+ v1.818 MYMK Zornitza Stark Publications for gene: MYMK were set to
Prepair 1000+ v1.817 MED25 Zornitza Stark Marked gene: MED25 as ready
Prepair 1000+ v1.817 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Prepair 1000+ v1.817 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3) to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643
Prepair 1000+ v1.816 MED25 Zornitza Stark Publications for gene: MED25 were set to
Prepair 1000+ v1.815 MED17 Zornitza Stark Marked gene: MED17 as ready
Prepair 1000+ v1.815 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.815 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Prepair 1000+ v1.814 MED17 Zornitza Stark Publications for gene: MED17 were set to
Prepair 1000+ v1.813 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Prepair 1000+ v1.813 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.813 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700
Prepair 1000+ v1.812 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Prepair 1000+ v1.811 MANBA Zornitza Stark Marked gene: MANBA as ready
Prepair 1000+ v1.811 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Prepair 1000+ v1.811 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta, 248510 (3) to Mannosidosis, beta, MIM#248510
Prepair 1000+ v1.810 ZNHIT3 Lucy Spencer reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39252897; Phenotypes: PEHO syndrome MIM#260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.810 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Prepair 1000+ v1.810 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.810 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM#244400
Prepair 1000+ v1.809 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Prepair 1000+ v1.808 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Prepair 1000+ v1.808 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.808 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from Mental retardation, autosomal recessive 7, 611093 (3) to Intellectual developmental disorder, autosomal recessive 7 MIM#611093
Prepair 1000+ v1.807 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Prepair 1000+ v1.806 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Prepair 1000+ v1.806 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.806 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Prepair 1000+ v1.805 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Prepair 1000+ v1.804 LYRM7 Zornitza Stark Marked gene: LYRM7 as ready
Prepair 1000+ v1.804 LYRM7 Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.804 LYRM7 Zornitza Stark Phenotypes for gene: LYRM7 were changed from Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838, Autosomal recessive
Prepair 1000+ v1.803 LYRM7 Zornitza Stark Publications for gene: LYRM7 were set to
Prepair 1000+ v1.802 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Prepair 1000+ v1.802 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.802 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from Mental retardation, X-linked 90, 300850 (3) to Intellectual developmental disorder, X-linked 90 MIM#300850
Prepair 1000+ v1.801 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Prepair 1000+ v1.800 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Prepair 1000+ v1.800 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.800 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Polymicrogyria with optic nerve hypoplasia, 613180 (3) to Polymicrogyria with optic nerve hypoplasia MONDO:0013172
Prepair 1000+ v1.799 ZBTB24 Lucy Spencer reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069, MONDO:0013553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.799 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Prepair 1000+ v1.798 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Prepair 1000+ v1.798 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Prepair 1000+ v1.798 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type, 220111 (3) to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Prepair 1000+ v1.797 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Prepair 1000+ v1.796 WNT10A Lucy Spencer reviewed gene: WNT10A: Rating: RED; Mode of pathogenicity: None; Publications: 19559398, 30426266; Phenotypes: Ectodermal dysplasia 16 (odontoonychodermal dysplasia) MIM#257980, Schopf-Schulz-Passarge syndrome MIM#224750, Tooth agenesis, selective, 4 MIM#150400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.796 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Prepair 1000+ v1.796 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.796 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, 615033 (3) to Spastic paraplegia 54, autosomal recessive, MIM#615033
Prepair 1000+ v1.795 DDHD2 Zornitza Stark Publications for gene: DDHD2 were set to
Prepair 1000+ v1.794 TRDN Zornitza Stark Marked gene: TRDN as ready
Prepair 1000+ v1.794 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Prepair 1000+ v1.794 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441; Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Prepair 1000+ v1.793 TRDN Zornitza Stark Publications for gene: TRDN were set to
Prepair 1000+ v1.792 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Prepair 1000+ v1.792 MARS2 Zornitza Stark Gene: mars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.792 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive, 611390 (3) to Combined oxidative phosphorylation deficiency 25; MIM #616430, MONDO:0014636; Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664
Prepair 1000+ v1.791 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.790 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2, 259710 (3) to Osteopetrosis, autosomal recessive 2, MIM#259710
Prepair 1000+ v1.789 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Prepair 1000+ v1.788 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Prepair 1000+ v1.788 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Prepair 1000+ v1.788 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) to Mitochondrial disease MONDO:0044970
Prepair 1000+ v1.787 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Prepair 1000+ v1.786 LINS1 Zornitza Stark Marked gene: LINS1 as ready
Prepair 1000+ v1.786 LINS1 Zornitza Stark Gene: lins1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.786 LINS1 Zornitza Stark Phenotypes for gene: LINS1 were changed from Mental retardation, autosomal recessive 27, 614340 (3) to Intellectual developmental disorder, autosomal recessive 2, MIM#614340
Prepair 1000+ v1.785 LINS1 Zornitza Stark Publications for gene: LINS1 were set to
Prepair 1000+ v1.784 LINS1 Zornitza Stark reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.784 VPS45 Lucy Spencer reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: 30294941; Phenotypes: Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.784 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Prepair 1000+ v1.784 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.784 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 (3) to Spastic paraplegia 30, autosomal recessive, MIM#610357
Prepair 1000+ v1.783 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Prepair 1000+ v1.782 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Prepair 1000+ v1.782 TIMM8A Zornitza Stark Gene: timm8a has been classified as Green List (High Evidence).
Prepair 1000+ v1.782 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from Jensen syndrome, 311150 (3) to Mohr-Tranebjaerg syndrome MIM#304700
Prepair 1000+ v1.781 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Prepair 1000+ v1.780 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Prepair 1000+ v1.780 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.780 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Prepair 1000+ v1.779 STXBP2 Zornitza Stark Publications for gene: STXBP2 were set to
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17, 615994 (3) to Bardet-Biedl syndrome 17 MIM#615994; MONDO:0014445
Prepair 1000+ v1.777 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Prepair 1000+ v1.776 SMS Zornitza Stark Marked gene: SMS as ready
Prepair 1000+ v1.776 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Prepair 1000+ v1.776 SMS Zornitza Stark Phenotypes for gene: SMS were changed from Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583
Prepair 1000+ v1.775 SMS Zornitza Stark Publications for gene: SMS were set to
Prepair 1000+ v1.774 VARS2 Lucy Spencer reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064326; Phenotypes: Combined oxidative phosphorylation deficiency 20 MIM#615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.774 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Prepair 1000+ v1.774 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.774 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type to Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243
Prepair 1000+ v1.773 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Prepair 1000+ v1.772 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Prepair 1000+ v1.772 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Prepair 1000+ v1.772 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from Epileptic encephalopathy, early infantile, 3, 609304 (3) to Epileptic encephalopathy, early infantile, 3, MIM#609304
Prepair 1000+ v1.771 SLC25A22 Zornitza Stark Publications for gene: SLC25A22 were set to
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 to Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.769 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.768 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Prepair 1000+ v1.767 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Prepair 1000+ v1.767 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Prepair 1000+ v1.767 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from Filippi syndrome, 272440 (3) to Filippi syndrome, MIM#272440
Prepair 1000+ v1.766 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Prepair 1000+ v1.765 CHKB Zornitza Stark Marked gene: CHKB as ready
Prepair 1000+ v1.765 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.765 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type, 602541 (3) to Muscular dystrophy, congenital, megaconial type, MIM#602541
Prepair 1000+ v1.764 CHKB Zornitza Stark Publications for gene: CHKB were set to
Prepair 1000+ v1.763 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Prepair 1000+ v1.763 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.763 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive, 604804 (3) to Microcephaly 3, primary, autosomal recessive, MIM#604804
Prepair 1000+ v1.762 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Prepair 1000+ v1.761 TTC7A Lucy Spencer reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28936210, 30553809; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TSHB Lucy Spencer reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TSEN54 Lucy Spencer reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A (MIM#277470), Pontocerebellar hypoplasia type 4 (MIM#225753), ?Pontocerebellar hypoplasia type 5 (MIM#610204); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TPRKB Lucy Spencer changed review comment from: Gene is red on Mackenzie's mission panel but the review itself is green and says "Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly." this is refering to 3 families all with homozygous missense, p.Lys65Met, p.Tyr149Cys, and p.Leu136Pro.

There has been at least one more individual reported PMID: 38628357: a three-year-old male with developmental delay, regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. He also had relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. He was compound heterozygous for p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe).

Severe early-onset and reported in at least 4 individuals (also green on mendeliome), upgrading to green here.; to: Gene is red on Mackenzie's mission panel but the review itself is green and says "Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly." this is refering to 3 families all with homozygous missense, p.Lys65Met, p.Tyr149Cys, and p.Leu136Pro (PMIDs: 28805828, 30053862).

There has been at least one more individual reported PMID: 38628357: a three-year-old male with developmental delay, regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. He also had relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. He was compound heterozygous for p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe).

Severe early-onset and reported in at least 4 individuals (also green on mendeliome), upgrading to green here.
Prepair 1000+ v1.761 TPRKB Lucy Spencer reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 38628357, 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 D2HGDH Karina Sandoval reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15609246, 16081310, 31349060, 20020533, 38825343; Phenotypes: D-2-hydroxyglutaric aciduria, MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 CLDN19 Karina Sandoval changed review comment from: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.

Variable age of onset of deafness, progressive, generally in the first decade.

PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.

PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years.

PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age; to: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.

Variable age of onset of deafness, progressive, generally in the first decade.

PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.

PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years.

PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age
Prepair 1000+ v1.761 CCNO Zornitza Stark Marked gene: CCNO as ready
Prepair 1000+ v1.761 CCNO Zornitza Stark Gene: ccno has been classified as Green List (High Evidence).
Prepair 1000+ v1.761 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from Ciliary diskinesia, primary, 29, 615872 (3) to Ciliary diskinesia, primary, 29, MIM#615872
Prepair 1000+ v1.760 CCNO Zornitza Stark Publications for gene: CCNO were set to
Prepair 1000+ v1.759 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Prepair 1000+ v1.759 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.759 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9, 612285 (3) to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845
Prepair 1000+ v1.758 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Prepair 1000+ v1.757 C3 Zornitza Stark Marked gene: C3 as ready
Prepair 1000+ v1.757 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.757 C3 Zornitza Stark Phenotypes for gene: C3 were changed from C3 deficiency, 613779 (3) to C3 deficiency, MIM#613779
Prepair 1000+ v1.756 C3 Zornitza Stark Publications for gene: C3 were set to
Prepair 1000+ v1.755 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Prepair 1000+ v1.755 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Prepair 1000+ v1.755 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from Microcephaly 6, primary, autosomal recessive, 608393 (3) to Microcephaly 6, primary MIM#608393; Seckel syndrome 4 MIM#613676
Prepair 1000+ v1.754 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Prepair 1000+ v1.753 CDH11 Zornitza Stark Marked gene: CDH11 as ready
Prepair 1000+ v1.753 CDH11 Zornitza Stark Gene: cdh11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.753 CDH11 Zornitza Stark Phenotypes for gene: CDH11 were changed from Elsahy-Waters syndrome, 211380 (3), Autosomal recessive to Elsahy-Waters syndrome MIM#211380
Prepair 1000+ v1.752 CDH11 Zornitza Stark Publications for gene: CDH11 were set to
Prepair 1000+ v1.751 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Prepair 1000+ v1.751 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.751 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984 (3) to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Prepair 1000+ v1.750 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Prepair 1000+ v1.749 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Prepair 1000+ v1.749 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.749 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from Albinism, oculocutaneous, type VI, 113750 (3) to Albinism, oculocutaneous, type VI, MIM#113750
Prepair 1000+ v1.748 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Prepair 1000+ v1.747 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Prepair 1000+ v1.747 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.747 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 (3) to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Prepair 1000+ v1.746 SLC22A5 Zornitza Stark Publications for gene: SLC22A5 were set to
Prepair 1000+ v1.745 SLC16A1 Zornitza Stark Marked gene: SLC16A1 as ready
Prepair 1000+ v1.745 SLC16A1 Zornitza Stark Gene: slc16a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.745 SLC16A1 Zornitza Stark Phenotypes for gene: SLC16A1 were changed from Monocarboxylate transporter 1 deficiency, 616095 (3) to Monocarboxylate transporter 1 deficiency, MIM#616095
Prepair 1000+ v1.744 SLC16A1 Zornitza Stark Publications for gene: SLC16A1 were set to
Prepair 1000+ v1.743 SH2D1A Zornitza Stark Marked gene: SH2D1A as ready
Prepair 1000+ v1.743 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.743 SH2D1A Zornitza Stark Publications for gene: SH2D1A were set to
Prepair 1000+ v1.742 SGSH Zornitza Stark Marked gene: SGSH as ready
Prepair 1000+ v1.742 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Prepair 1000+ v1.742 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) to Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900
Prepair 1000+ v1.741 SGSH Zornitza Stark Publications for gene: SGSH were set to
Prepair 1000+ v1.740 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Prepair 1000+ v1.740 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.740 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) to Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377
Prepair 1000+ v1.739 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Prepair 1000+ v1.738 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Prepair 1000+ v1.738 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.738 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary, 12, 612650 (3) to Ciliary dyskinesia, primary, 12, MIM#612650
Prepair 1000+ v1.737 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Prepair 1000+ v1.736 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Prepair 1000+ v1.736 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.736 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, 614225 (3) to Warburg micro syndrome MONDO:0016649
Prepair 1000+ v1.735 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Prepair 1000+ v1.734 QARS Zornitza Stark Marked gene: QARS as ready
Prepair 1000+ v1.734 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Prepair 1000+ v1.734 QARS Zornitza Stark Phenotypes for gene: QARS were changed from Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760
Prepair 1000+ v1.733 QARS Zornitza Stark Publications for gene: QARS were set to
Prepair 1000+ v1.732 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Prepair 1000+ v1.732 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.732 PRF1 Zornitza Stark Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Prepair 1000+ v1.731 PRF1 Zornitza Stark Publications for gene: PRF1 were set to
Prepair 1000+ v1.730 CYP11B2 Andrew Coventry reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400, Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 CUL7 Andrew Coventry reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1 MIM#273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 OTULIN Andrew Coventry gene: OTULIN was added
gene: OTULIN was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 CLDN19 Karina Sandoval reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400, 17033971, 22422540; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 OXCT1 Andrew Coventry gene: OXCT1 was added
gene: OXCT1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 HPDL Andrew Coventry gene: HPDL was added
gene: HPDL was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 DBR1 Andrew Coventry gene: DBR1 was added
gene: DBR1 was added to Prepair 1000+. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 WHRN Andrew Coventry reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307081, 26338283, 22147658, 17171570, 21738389, 27117407; Phenotypes: Usher syndrome, type 2D MIM#611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 MYMK Cassandra Muller reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, 254940 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Prepair 1000+ v1.730 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.730 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) to Myopathy caused by variation in POMT1 MONDO:0700070
Prepair 1000+ v1.729 CTSK Lilian Downie Marked gene: CTSK as ready
Prepair 1000+ v1.729 CTSK Lilian Downie Gene: ctsk has been classified as Green List (High Evidence).
Prepair 1000+ v1.729 CTSK Lilian Downie Publications for gene: CTSK were set to
Prepair 1000+ v1.728 POMT1 Zornitza Stark Publications for gene: POMT1 were set to
Prepair 1000+ v1.727 CTSK Lilian Downie reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 33151655; Phenotypes: Pycnodysostosis MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.727 MMAA Zornitza Stark Marked gene: MMAA as ready
Prepair 1000+ v1.727 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Prepair 1000+ v1.727 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Prepair 1000+ v1.726 MERTK Zornitza Stark Marked gene: MERTK as ready
Prepair 1000+ v1.726 MERTK Zornitza Stark Gene: mertk has been classified as Green List (High Evidence).
Prepair 1000+ v1.726 MERTK Zornitza Stark Phenotypes for gene: MERTK were changed from Retinitis pigmentosa 38, 613862 (3) to Retinitis pigmentosa 38, MIM#613862
Prepair 1000+ v1.725 MERTK Zornitza Stark Publications for gene: MERTK were set to
Prepair 1000+ v1.724 CHRND Lilian Downie Marked gene: CHRND as ready
Prepair 1000+ v1.724 CHRND Lilian Downie Gene: chrnd has been classified as Green List (High Evidence).
Prepair 1000+ v1.724 CHRND Lilian Downie Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) to Multiple pterygium syndrome, lethal type MIM#253290; Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322
Prepair 1000+ v1.723 CHRND Lilian Downie Publications for gene: CHRND were set to
Prepair 1000+ v1.722 MARS Zornitza Stark Marked gene: MARS as ready
Prepair 1000+ v1.722 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Prepair 1000+ v1.722 MED25 Marta Cifuentes Ochoa reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121, 25527630, 30800049, 32324310, 19290556; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.722 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, 615486 (3) to Interstitial lung and liver disease, MIM#615486
Prepair 1000+ v1.721 CHRND Lilian Downie reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Multiple pterygium syndrome, lethal type MIM#253290, Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.721 MARS Zornitza Stark Publications for gene: MARS were set to
Prepair 1000+ v1.720 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Prepair 1000+ v1.720 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Prepair 1000+ v1.720 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.720 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from Bartter syndrome, type 2, 241200 (3) to Bartter syndrome, type 2, MIM#241200
Prepair 1000+ v1.719 MED17 Cassandra Muller reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598, 33756211, 20950787; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.719 CFL2 Lilian Downie Marked gene: CFL2 as ready
Prepair 1000+ v1.719 CFL2 Lilian Downie Gene: cfl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.719 CFL2 Lilian Downie Publications for gene: CFL2 were set to
Prepair 1000+ v1.718 CFL2 Lilian Downie reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29457652, 17160903, 22560515; Phenotypes: Nemaline myopathy 7, autosomal recessive MIM#610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 DOCK8 Melanie Marty reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 MANBA Cassandra Muller reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, 248510 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 CCDC88C Lilian Downie Marked gene: CCDC88C as ready
Prepair 1000+ v1.718 CCDC88C Lilian Downie Gene: ccdc88c has been classified as Green List (High Evidence).
Prepair 1000+ v1.718 CCDC88C Lilian Downie Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) to Hydrocephalus, congenital, 1 MIM#236600
Prepair 1000+ v1.717 CCDC88C Lilian Downie Publications for gene: CCDC88C were set to
Prepair 1000+ v1.716 CCDC88C Lilian Downie reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 34092257, 29341397, 23042809, 21031079; Phenotypes: Hydrocephalus, congenital, 1 MIM#236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 DNAI1 Melanie Marty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901, 32502479, 31765523, 30622330; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 TUSC3 Andrew Coventry reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977, 28397838, 18452889, 23825019; Phenotypes: Intellectual developmental disorder, autosomal recessive 7 MIM#611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 DNAH11 Melanie Marty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 C8orf37 Lilian Downie Marked gene: C8orf37 as ready
Prepair 1000+ v1.716 C8orf37 Lilian Downie Gene: c8orf37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.716 C8orf37 Lilian Downie Phenotypes for gene: C8orf37 were changed from Cone-rod dystrophy 16, 614500 (3) to Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500
Prepair 1000+ v1.715 C8orf37 Lilian Downie Publications for gene: C8orf37 were set to
Prepair 1000+ v1.714 C8orf37 Lilian Downie reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: None; Publications: 22177090, 25113443, 26865426, 25802487; Phenotypes: Retinitis pigmentosa 64 MIM#614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.714 LYRM7 Cassandra Muller Deleted their comment
Prepair 1000+ v1.714 LYRM7 Cassandra Muller commented on gene: LYRM7: Well-established gene disease association. Primary mitochondrial disease.
Prepair 1000+ v1.714 LYRM7 Cassandra Muller reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26912632, 24014394; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.714 DLG3 Melanie Marty reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24721225, 28777483; Phenotypes: Intellectual developmental disorder, X-linked 90 MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.714 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Prepair 1000+ v1.714 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.714 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from Immunodeficiency 15, 615592 (3) to Immunodeficiency 15, MIM#615592
Prepair 1000+ v1.713 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Prepair 1000+ v1.712 C21orf2 Lilian Downie Marked gene: C21orf2 as ready
Prepair 1000+ v1.712 C21orf2 Lilian Downie Gene: c21orf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.712 C21orf2 Lilian Downie Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive to Retinal dystrophy with macular staphyloma MIM#617547; Spondylometaphyseal dysplasia, axial MIM#602271
Prepair 1000+ v1.711 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.711 C21orf2 Lilian Downie Publications for gene: C21orf2 were set to
Prepair 1000+ v1.710 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Prepair 1000+ v1.710 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.710 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1, 203300 (3) to Hermansky-Pudlak syndrome 1, MIM#203300
Prepair 1000+ v1.709 C21orf2 Lilian Downie reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39232248, 26974433, 27548899, 28422394; Phenotypes: Retinal dystrophy with macular staphyloma MIM#617547, Spondylometaphyseal dysplasia, axial MIM#602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.709 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Prepair 1000+ v1.708 TUBA8 Andrew Coventry reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 34704371; Phenotypes: Polymicrogyria with optic nerve hypoplasia MONDO:0013172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 LRPPRC Cassandra Muller reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 12529507, 12529507, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 HPD Zornitza Stark Tag for review tag was added to gene: HPD.
Prepair 1000+ v1.708 DDHD2 Melanie Marty reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Prepair 1000+ v1.708 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.708 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from Hemochromatosis, type 2A, 602390 (3) to Haemochromatosis, type 2A, 602390 (3)
Prepair 1000+ v1.707 TRDN Andrew Coventry reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441, Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.707 BTD Lilian Downie reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency MIM#253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.707 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Prepair 1000+ v1.707 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Prepair 1000+ v1.707 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from D-glyceric aciduria, 220120 (3) to D-glyceric aciduria, MIM#220120
Prepair 1000+ v1.706 MARS2 Marta Cifuentes Ochoa reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25754315, 16672289, 22448145, 22448145, 23250129; Phenotypes: Combined oxidative phosphorylation deficiency 25, MIM #616430, MONDO:0014636, Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.706 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Prepair 1000+ v1.705 BSND Lilian Downie Marked gene: BSND as ready
Prepair 1000+ v1.705 BSND Lilian Downie Gene: bsnd has been classified as Green List (High Evidence).
Prepair 1000+ v1.705 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Prepair 1000+ v1.705 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.705 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, 221750 (3) to Pituitary hormone deficiency, combined, 3, MIM# 221750
Prepair 1000+ v1.704 BSND Lilian Downie Publications for gene: BSND were set to
Prepair 1000+ v1.703 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Prepair 1000+ v1.702 BSND Lilian Downie reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687798, 19646679, 16572343; Phenotypes: Bartter syndrome, type 4a MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.702 KY Zornitza Stark Marked gene: KY as ready
Prepair 1000+ v1.702 KY Zornitza Stark Gene: ky has been classified as Green List (High Evidence).
Prepair 1000+ v1.702 KY Zornitza Stark Phenotypes for gene: KY were changed from Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive to Myopathy, myofibrillar, 7 (MIM#617114)
Prepair 1000+ v1.701 TNFSF11 Andrew Coventry reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511, 36031188, 32940787, 32048120, 10984520; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.701 KY Zornitza Stark Publications for gene: KY were set to
Prepair 1000+ v1.700 LMOD3 Cassandra Muller reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25250574, 28815944, 30291184; Phenotypes: Nemaline myopathy 10, 616165 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.700 BCKDHB Lilian Downie Marked gene: BCKDHB as ready
Prepair 1000+ v1.700 BCKDHB Lilian Downie Gene: bckdhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.700 BCKDHB Lilian Downie Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib, 248600 (3) to Maple syrup urine disease, type Ib 620698
Prepair 1000+ v1.699 BCKDHB Lilian Downie Publications for gene: BCKDHB were set to
Prepair 1000+ v1.698 BCKDHB Lilian Downie reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301495, 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib 620698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.698 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Prepair 1000+ v1.698 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.698 KLHL7 Zornitza Stark Phenotypes for gene: KLHL7 were changed from PERCHING syndrome, 617055 (3) to PERCHING syndrome, MIM#617055
Prepair 1000+ v1.697 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Prepair 1000+ v1.696 POP1 Zornitza Stark Marked gene: POP1 as ready
Prepair 1000+ v1.696 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.696 POP1 Zornitza Stark Phenotypes for gene: POP1 were changed from Anauxetic dysplasia 2, 617396 (3), Autosomal recessive to Anauxetic dysplasia 2, MIM#617396
Prepair 1000+ v1.695 TMEM70 Andrew Coventry reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.695 POP1 Zornitza Stark Publications for gene: POP1 were set to
Prepair 1000+ v1.694 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Prepair 1000+ v1.694 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.694 LIPT1 Cassandra Muller reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 29681092, 27977873; Phenotypes: Lipoyltransferase 1 deficiency, 616299 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.694 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135
Prepair 1000+ v1.693 POMGNT2 Zornitza Stark Publications for gene: POMGNT2 were set to
Prepair 1000+ v1.692 ATP6V0A4 Lilian Downie Marked gene: ATP6V0A4 as ready
Prepair 1000+ v1.692 ATP6V0A4 Lilian Downie Gene: atp6v0a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.692 ATP6V0A4 Lilian Downie Phenotypes for gene: ATP6V0A4 were changed from Renal tubular acidosis, distal, autosomal recessive, 602722 (3) to Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722
Prepair 1000+ v1.691 POMC Zornitza Stark Marked gene: POMC as ready
Prepair 1000+ v1.691 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Prepair 1000+ v1.691 POMC Zornitza Stark Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3) to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734
Prepair 1000+ v1.690 ATP6V0A4 Lilian Downie Publications for gene: ATP6V0A4 were set to
Prepair 1000+ v1.689 POMC Zornitza Stark Publications for gene: POMC were set to
Prepair 1000+ v1.688 ATP6V0A4 Lilian Downie reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22872862, 12414817, 29311258; Phenotypes: Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.688 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Prepair 1000+ v1.688 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.688 IARS2 Zornitza Stark Phenotypes for gene: IARS2 were changed from ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007
Prepair 1000+ v1.687 IARS2 Zornitza Stark Publications for gene: IARS2 were set to
Prepair 1000+ v1.686 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Prepair 1000+ v1.686 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.686 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3) to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200
Prepair 1000+ v1.685 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Prepair 1000+ v1.685 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Prepair 1000+ v1.685 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930
Prepair 1000+ v1.684 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Prepair 1000+ v1.683 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Prepair 1000+ v1.683 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.683 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Prepair 1000+ v1.682 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Prepair 1000+ v1.681 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Prepair 1000+ v1.681 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.681 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) to Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200
Prepair 1000+ v1.680 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Prepair 1000+ v1.679 SLC9A3 Lilian Downie Marked gene: SLC9A3 as ready
Prepair 1000+ v1.679 SLC9A3 Lilian Downie Added comment: Comment when marking as ready: Downgrade to RED for severity (mild, children thrive on normal diet)
Prepair 1000+ v1.679 SLC9A3 Lilian Downie Gene: slc9a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.679 SLC9A3 Lilian Downie Tag for review tag was added to gene: SLC9A3.
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.679 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 (3) to L-2-hydroxyglutaric aciduria, MIM#236792
Prepair 1000+ v1.678 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Prepair 1000+ v1.677 SLC9A3 Lilian Downie Publications for gene: SLC9A3 were set to
Prepair 1000+ v1.676 HEXB Zornitza Stark Marked gene: HEXB as ready
Prepair 1000+ v1.676 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Prepair 1000+ v1.676 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) to Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800
Prepair 1000+ v1.675 HEXB Zornitza Stark Publications for gene: HEXB were set to
Prepair 1000+ v1.674 LRRC6 Lilian Downie Marked gene: LRRC6 as ready
Prepair 1000+ v1.674 LRRC6 Lilian Downie Added comment: Comment when marking as ready: Note alternative gene name DNAAF11
Prepair 1000+ v1.674 LRRC6 Lilian Downie Gene: lrrc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.674 LRRC6 Lilian Downie Marked gene: LRRC6 as ready
Prepair 1000+ v1.674 LRRC6 Lilian Downie Added comment: Comment when marking as ready: Note alternative gene name DNAAF11
Prepair 1000+ v1.674 LRRC6 Lilian Downie Gene: lrrc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.674 LRRC6 Lilian Downie Publications for gene: LRRC6 were set to
Prepair 1000+ v1.673 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Prepair 1000+ v1.673 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Prepair 1000+ v1.673 SLC26A2 Lilian Downie Marked gene: SLC26A2 as ready
Prepair 1000+ v1.673 SLC26A2 Lilian Downie Added comment: Comment when marking as ready: ClinGen has curated this gene for 4 split disease entities (see Mondo terms) when curating consider genotype-phenotype
Prepair 1000+ v1.673 SLC26A2 Lilian Downie Gene: slc26a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.673 HEPACAM Zornitza Stark Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3)
Prepair 1000+ v1.672 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Prepair 1000+ v1.671 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Prepair 1000+ v1.671 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.671 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Prepair 1000+ v1.670 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Prepair 1000+ v1.669 LINS1 Cassandra Muller changed review comment from: Well established gene disease association.; to: Well established gene- condition association.
Prepair 1000+ v1.669 LINS1 Cassandra Muller reviewed gene: LINS1: Rating: ; Mode of pathogenicity: None; Publications: 34450347, 21937992, 32802957, 32499722; Phenotypes: Intellectual developmental disorder, autosomal recessive 2, 614340 (3); Mode of inheritance: None
Prepair 1000+ v1.669 SLC26A2 Lilian Downie Added comment: Comment on phenotypes: ClinGen has split this gene for 4 disease entities as per the Mondo terms. Curation of variants will need to consider the spectrum.
Prepair 1000+ v1.669 SLC26A2 Lilian Downie Phenotypes for gene: SLC26A2 were changed from Achondrogenesis Ib, 600972 (3) to diastrophic dysplasia MONDO:0009107; multiple epiphyseal dysplasia MONDO:0016648; atelosteogenesis type II MONDO:0009727; achondrogenesis type IB MONDO:0010966
Prepair 1000+ v1.668 POLR1C Zornitza Stark Marked gene: POLR1C as ready
Prepair 1000+ v1.668 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.668 POLR1C Zornitza Stark Phenotypes for gene: POLR1C were changed from Treacher Collins syndrome 3, 248390 (3) to Leukodystrophy, hypomyelinating, 11 MIM#616494; Treacher Collins syndrome 3 MIM#248390
Prepair 1000+ v1.667 POLR1C Zornitza Stark Publications for gene: POLR1C were set to
Prepair 1000+ v1.666 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Prepair 1000+ v1.666 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Prepair 1000+ v1.666 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from Peroxisome biogenesis disorder 14B, 614920 (3) to Peroxisome biogenesis disorder 14B MIM#614920
Prepair 1000+ v1.665 SLC26A2 Lilian Downie Publications for gene: SLC26A2 were set to
Prepair 1000+ v1.664 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Prepair 1000+ v1.663 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Prepair 1000+ v1.663 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.663 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Peroxisome biogenesis disorder 6A (Zellweger), 614870 to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871
Prepair 1000+ v1.662 PEX10 Zornitza Stark Publications for gene: PEX10 were set to
Prepair 1000+ v1.661 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Prepair 1000+ v1.661 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.661 JAGN1 Zornitza Stark Phenotypes for gene: JAGN1 were changed from Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3) to Severe congenital neutropenia 6, MIM# 616022
Prepair 1000+ v1.660 JAGN1 Zornitza Stark Publications for gene: JAGN1 were set to
Prepair 1000+ v1.659 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Prepair 1000+ v1.659 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Prepair 1000+ v1.659 NUP93 Zornitza Stark Phenotypes for gene: NUP93 were changed from Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive to Nephrotic syndrome, type 12 MIM#616892
Prepair 1000+ v1.658 NUP93 Zornitza Stark Publications for gene: NUP93 were set to
Prepair 1000+ v1.657 PDE6C Lilian Downie Marked gene: PDE6C as ready
Prepair 1000+ v1.657 PDE6C Lilian Downie Added comment: Comment when marking as ready: Downgrade to red for severity
Prepair 1000+ v1.657 PDE6C Lilian Downie Gene: pde6c has been classified as Green List (High Evidence).
Prepair 1000+ v1.657 PDE6C Lilian Downie Publications for gene: PDE6C were set to
Prepair 1000+ v1.656 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Prepair 1000+ v1.656 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.656 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3) to Early onset inflammatory bowel disease 28 (MIM# 613148)
Prepair 1000+ v1.655 IL10RA Zornitza Stark Publications for gene: IL10RA were set to
Prepair 1000+ v1.654 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Prepair 1000+ v1.654 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Prepair 1000+ v1.654 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) to Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)
Prepair 1000+ v1.653 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Prepair 1000+ v1.652 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Prepair 1000+ v1.652 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.652 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from Senior-Loken syndrome 4, 606996 (3) to Nephronophthisis 4 MONDO:0011752; Nephronophthisis 4 MIM#606966; Senior-Loken syndrome 4 MIM#606996
Prepair 1000+ v1.651 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Prepair 1000+ v1.650 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Prepair 1000+ v1.650 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.650 NDUFAF6 Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Leigh syndrome MONDO:0009723; Mitochondrial complex I deficiency, nuclear type 17 MIM#618239
Prepair 1000+ v1.649 NDUFAF6 Zornitza Stark Publications for gene: NDUFAF6 were set to
Prepair 1000+ v1.648 IDS Zornitza Stark Marked gene: IDS as ready
Prepair 1000+ v1.648 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Prepair 1000+ v1.648 IDS Zornitza Stark Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II, 309900 (3) to Mucopolysaccharidosis II, MIM# 309900; Hunter syndrome, MONDO:0010674
Prepair 1000+ v1.647 IDS Zornitza Stark Publications for gene: IDS were set to
Prepair 1000+ v1.646 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Prepair 1000+ v1.646 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Prepair 1000+ v1.646 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) to Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920
Prepair 1000+ v1.645 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Prepair 1000+ v1.644 KIF1A Cassandra Muller reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22258533, 21487076; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.644 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Prepair 1000+ v1.644 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.644 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 (3) to Myopathy, centronuclear, X-linked MIM#310400
Prepair 1000+ v1.643 CABP4 Lilian Downie Marked gene: CABP4 as ready
Prepair 1000+ v1.643 CABP4 Lilian Downie Added comment: Comment when marking as ready: Downgrade to red for severity
Prepair 1000+ v1.643 CABP4 Lilian Downie Gene: cabp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.643 MTM1 Zornitza Stark Publications for gene: MTM1 were set to
Prepair 1000+ v1.642 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Prepair 1000+ v1.642 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.642 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322 (3) to Lesch-Nyhan syndrome, MIM#300322
Prepair 1000+ v1.641 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Prepair 1000+ v1.640 COG6 Zornitza Stark Marked gene: COG6 as ready
Prepair 1000+ v1.640 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.640 COG6 Zornitza Stark Publications for gene: COG6 were set to
Prepair 1000+ v1.639 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Prepair 1000+ v1.639 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.639 GPT2 Zornitza Stark Publications for gene: GPT2 were set to
Prepair 1000+ v1.638 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Prepair 1000+ v1.638 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Prepair 1000+ v1.638 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947 (3) to Leigh Syndrome MONDO:0009723
Prepair 1000+ v1.637 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Prepair 1000+ v1.636 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Prepair 1000+ v1.636 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.636 GPC3 Zornitza Stark Publications for gene: GPC3 were set to
Prepair 1000+ v1.635 GPR143 Lilian Downie Marked gene: GPR143 as ready
Prepair 1000+ v1.635 GPR143 Lilian Downie Added comment: Comment when marking as ready: DOWNGRADE TO RED NOT SEVERE ENOUGH
Prepair 1000+ v1.635 GPR143 Lilian Downie Gene: gpr143 has been classified as Green List (High Evidence).
Prepair 1000+ v1.635 GPR143 Lilian Downie Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, 300500 (3) to Nystagmus 6, congenital, X-linked, MIM#300814; Ocular albinism, type I, Nettleship-Falls type, MIM#300500
Prepair 1000+ v1.634 GPR143 Lilian Downie Publications for gene: GPR143 were set to
Prepair 1000+ v1.633 TIMM8A Andrew Coventry reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 7643352; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 STXBP2 Andrew Coventry reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848, 22451424, 20558610; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LZTFL1 Marta Cifuentes Ochoa reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986, 38801250, 32686083, 37239474; Phenotypes: Bardet-Biedl syndrome 17 MIM#615994, MONDO:0014445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SMS Andrew Coventry reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SLC9A6 Andrew Coventry changed review comment from: Established gene-disease association. Childhood onset, multi-system, Angelman-like disorder.
Characterised by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types.

Female carriers may be either asymptomatic, or more mildly affected than males.
PMID 31192222: describes 20 female carriers from 9 families. Presentations included impairments in visuospatial function, attention, and executive function. Cohort features: Intellectual disability/developmental delay (20%), learning difficulties (31%), speech/language delays (30%), and attention-deficit/hyperactivity disorder (20%).
PMID 35198730: Japanese family where SLC9A6 variant in female carriers segregated with atypical parkinsonism and intellectual disability.

More than 20 unrelated families reported. Functional data including mouse model.; to: Established gene-disease association. Childhood onset, multi-system, Angelman-like disorder in affected males -
characterised by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types.

Female carriers may be either asymptomatic, or more mildly affected than males.
PMID 31192222: describes 20 female carriers from 9 families. Presentations included impairments in visuospatial function, attention, and executive function. Cohort features: Intellectual disability/developmental delay (20%), learning difficulties (31%), speech/language delays (30%), and attention-deficit/hyperactivity disorder (20%).
PMID 35198730: Japanese family where SLC9A6 variant in female carriers segregated with atypical parkinsonism and intellectual disability.

More than 20 unrelated families reported. Functional data including mouse model.
Prepair 1000+ v1.633 SLC9A6 Andrew Coventry reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 31192222, 35198730; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 SLC9A3 Andrew Coventry reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773, 32227118, 35775128; Phenotypes: Diarrhea 8, secretory sodium, congenital MIM#616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LRRC6 Marta Cifuentes Ochoa reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670, 38934611, 33577779, 39004944, 31624012; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935, MONDO:0013979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LDHB Marta Cifuentes Ochoa reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory variants usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset can be neonatal.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689, 11241838, 8723100; Phenotypes: Achondrogenesis Ib MIM#600972, Atelosteogenesis, type II MIM#256050, De la Chapelle dysplasia MIM#256050, Diastrophic dysplasia MIM#222600, Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600, Epiphyseal dysplasia, multiple, 4 MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC25A22 Andrew Coventry reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3 MIM#609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC25A15 Andrew Coventry reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CKAP2L Karina Sandoval reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome MIM#272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CHKB Karina Sandoval reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM#602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CDK5RAP2 Karina Sandoval reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CCNO Karina Sandoval reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM#615872, Primary Ciliary Dyskinesia 29, MONDO:0014378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CC2D2A Karina Sandoval reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 C3 Karina Sandoval reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CENPJ Michelle Torres reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 36334884; Phenotypes: Microcephaly 6, primary MIM#608393, Seckel syndrome 4 MIM#613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CDH11 Michelle Torres reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29271567; Phenotypes: Elsahy-Waters syndrome MIM#211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 BBS7 Karina Sandoval reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC24A5 Andrew Coventry reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI MIM#113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC22A5 Andrew Coventry reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326, 25778941, 17884651, 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC16A1 Andrew Coventry reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 20301549, 36082648, 35729663; Phenotypes: Monocarboxylate transporter 1 deficiency MIM#616095; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.633 SH2D1A Andrew Coventry reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SGSH Andrew Coventry reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SCO2 Andrew Coventry reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15210538, 18924171, 22231385, 10545952, 10749987; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 RSPH9 Andrew Coventry reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 RPL10 Andrew Coventry reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468, 29066376, 35876338; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35 MIM#300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 RAB3GAP2 Andrew Coventry reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16532399, 20967465, 23420520, 32740904, 32376645, 24891604; Phenotypes: Warburg micro syndrome MONDO:0016649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 QARS Andrew Coventry reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24656866, 27717089, 31618474, 25471517, 25432320, 24656866, 28620870, 25041233, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PRF1 Andrew Coventry reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19595804, 26199792, 30070073, 19487666, 26184781, 10583959, 19487666; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMT1 Andrew Coventry reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15792865, 22549409, 31311558, 20065251, 25088310, 19299310, 19299310; Phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IMPG2 Andrew Coventry changed review comment from: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.; to: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Age of onset:
PMID 34990796 - 16yo had night blindness and photophobia. Had 22y.o. sibling that was severely affected. Age of initial onset of visual symptoms said to be ~2-4 years of age.
PMID 31264916 - 8y.o. with photophobia and myopia, 4y.o. with light sensitivity. 17yo with poor vision 'since childhood', 17yo with poor vision since birth and poor night vision, 45yo with poor night vision - starting at 6yo and progressing loss of central vision.
PMID 24876279 - age of onset of patients studied: 1, 5, 6, 1, 2, 3, 2, 3, 1, 4, 1, 2, 1, 2, 6, 1, 1. Symptoms variable, including night blindness, decrease of visual acuity, loss of visual field.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.
Prepair 1000+ v1.633 MMAA Ee Ming Wong reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type (MIM#251100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 MERTK Ee Ming Wong reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38 (MIM#613862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 MARS Ee Ming Wong reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24103465, 25913036; Phenotypes: Interstitial lung and liver disease, MIM#615486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KCNJ1 Cassandra Muller reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, 241200 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IKBKB Cassandra Muller reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24369075, 25216719, 24679846, 32117824, 2513935; Phenotypes: Immunodeficiency 15, 615592 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HPS1 Cassandra Muller reviewed gene: HPS1: Rating: ; Mode of pathogenicity: None; Publications: 8896559, 9497254, 9705234, 27593200, 31898847; Phenotypes: Hermansky-Pudlak syndrome 1, 203300 (3); Mode of inheritance: None
Prepair 1000+ v1.633 HPD Cassandra Muller reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: None; Publications: 10942115, 23036342, 37817461, 28649543; Phenotypes: Tyrosinemia, type III, 276710 (3); Mode of inheritance: None
Prepair 1000+ v1.633 HFE2 Cassandra Muller reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GLYCTK Cassandra Muller reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949620, 31837836, 39619776; Phenotypes: D-glyceric aciduria, 220120 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LHX3 Ee Ming Wong reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30759489; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM# 221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KY Ee Ming Wong reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 27484770, 27485408, 30591934; Phenotypes: Myopathy, myofibrillar, 7 (MIM#617114); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KLHL7 Ee Ming Wong reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 POP1 Crystle Lee reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMGNT2 Crystle Lee edited their review of gene: POMGNT2: Changed rating: GREEN
Prepair 1000+ v1.633 POMGNT2 Crystle Lee reviewed gene: POMGNT2: Rating: ; Mode of pathogenicity: None; Publications: 34301702; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMC Crystle Lee reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 34177811; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IARS2 Crystle Lee reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30419932; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HINT1 Crystle Lee reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HGSNAT Crystle Lee reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 32770643; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930, Retinitis pigmentosa 73, MIM#616544; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PDE6C Crystle Lee reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33001157, 34720973; Phenotypes: Cone dystrophy 4, MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 NDUFAF2 Crystle Lee reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38419071; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LPIN1 Crystle Lee reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 L2HGDH Crystle Lee edited their review of gene: L2HGDH: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 L2HGDH Crystle Lee changed review comment from: Well established gene-disease association.

Onset typically in infancy or early childhood, however, reports of milder, adult onset cases have been reported. Patients may present with a wide variety of clinical manifestations.; to: Well established gene-disease association.

Onset typically in infancy or early childhood, however, reports of milder, adult onset cases have been reported. Patients may present with a wide variety of clinical manifestations.
Prepair 1000+ v1.633 L2HGDH Crystle Lee reviewed gene: L2HGDH: Rating: ; Mode of pathogenicity: None; Publications: 39262645, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: None
Prepair 1000+ v1.633 HEXB Crystle Lee reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35711818; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HEPACAM Crystle Lee reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HCFC1 Crystle Lee reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576; Phenotypes: Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 GPR143 Crystle Lee reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: Nystagmus 6, congenital, X-linked, MIM#300814, Ocular albinism, type I, Nettleship-Falls type, MIM#300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 POLR1C Andrew Coventry reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26151409, 21131976, 30957429, 32042905; Phenotypes: Leukodystrophy, hypomyelinating, 11 MIM#616494, Treacher Collins syndrome 3 MIM#248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PEX11B Andrew Coventry reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968, 31724321, 38423277, 39092477, 28129423, 33558817; Phenotypes: Peroxisome biogenesis disorder 14B MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PEX10 Andrew Coventry reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10862081, 21031596, 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 JAGN1 Ee Ming Wong reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25129144, 37528877; Phenotypes: Severe congenital neutropenia 6, MIM# 616022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 NUP93 Andrew Coventry reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391, 37762751, 38650033, 37692026, 37845138; Phenotypes: Nephrotic syndrome, type 12 MIM#616892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IL10RA Ee Ming Wong reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Early onset inflammatory bowel disease 28 (MIM# 613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 IFT140 Ee Ming Wong reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 NPHP4 Andrew Coventry reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113, 23354436, 1577426, 23188109, 23559409; Phenotypes: Nephronophthisis 4 MONDO:0011752, Nephronophthisis 4 MIM#606966, Senior-Loken syndrome 4 MIM#606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 NDUFAF6 Andrew Coventry reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748, 18614015, 30642748, 29531337, 27623250, 28639102, 31967322, 32020600, 22019594, 25613900, 26741492, 35664867; Phenotypes: Leigh syndrome MONDO:0009723, Mitochondrial complex I deficiency, nuclear type 17 MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IDS Ee Ming Wong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301451; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, Hunter syndrome, MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 NAGLU Andrew Coventry reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226, 14518829, 18392742, 11668611; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MTM1 Andrew Coventry reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201, 8640223, 27017278, 26938784, 15725586, 30232666, 37176116, 32805447, 31541013; Phenotypes: Myopathy, centronuclear, X-linked MIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 HPRT1 Ee Ming Wong reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301328; Phenotypes: Lesch-Nyhan syndrome (MIM#300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 COG6 Lauren Thomas reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl (MIM# 614576); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GPT2 Kate Scarff reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27601654, 25758935, 31471722; Phenotypes: Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM #616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MTFMT Andrew Coventry reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348, 30911575; Phenotypes: Leigh Syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GPC3 Kate Scarff reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301398, 38766979; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM #312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 DPH1 Lilian Downie Marked gene: DPH1 as ready
Prepair 1000+ v1.633 DPH1 Lilian Downie Gene: dph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.633 DPH1 Lilian Downie Publications for gene: DPH1 were set to
Prepair 1000+ v1.632 EIF2B5 Lilian Downie Marked gene: EIF2B5 as ready
Prepair 1000+ v1.632 EIF2B5 Lilian Downie Gene: eif2b5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.632 EIF2B5 Lilian Downie Publications for gene: EIF2B5 were set to
Prepair 1000+ v1.631 ESCO2 Lilian Downie Marked gene: ESCO2 as ready
Prepair 1000+ v1.631 ESCO2 Lilian Downie Added comment: Comment when marking as ready: ClinGen review
Prepair 1000+ v1.631 ESCO2 Lilian Downie Gene: esco2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.631 ESCO2 Lilian Downie Added comment: Comment on phenotypes: ClinGen review for Roberts-SC phocolmelia MONDO:0100253 but no reference to Juberg-Hayward syndrome
Prepair 1000+ v1.631 ESCO2 Lilian Downie Phenotypes for gene: ESCO2 were changed from SC phocomelia syndrome, 269000 (3) to Juberg-Hayward syndrome (MIM#216100); Roberts-SC phocomelia syndrome (MIM#268300)
Prepair 1000+ v1.630 ESCO2 Lilian Downie Publications for gene: ESCO2 were set to
Prepair 1000+ v1.629 GAMT Lilian Downie Marked gene: GAMT as ready
Prepair 1000+ v1.629 GAMT Lilian Downie Gene: gamt has been classified as Green List (High Evidence).
Prepair 1000+ v1.629 GAMT Lilian Downie Publications for gene: GAMT were set to
Prepair 1000+ v1.628 GLDC Lilian Downie Marked gene: GLDC as ready
Prepair 1000+ v1.628 GLDC Lilian Downie Gene: gldc has been classified as Green List (High Evidence).
Prepair 1000+ v1.628 GLDC Lilian Downie Publications for gene: GLDC were set to
Prepair 1000+ v1.627 GNS Lilian Downie Marked gene: GNS as ready
Prepair 1000+ v1.627 GNS Lilian Downie Gene: gns has been classified as Green List (High Evidence).
Prepair 1000+ v1.627 GNS Lilian Downie Publications for gene: GNS were set to
Prepair 1000+ v1.626 GPAA1 Lilian Downie Marked gene: GPAA1 as ready
Prepair 1000+ v1.626 GPAA1 Lilian Downie Gene: gpaa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.626 GPAA1 Lilian Downie Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810
Prepair 1000+ v1.625 GPAA1 Lilian Downie Publications for gene: GPAA1 were set to
Prepair 1000+ v1.624 GRM1 Lilian Downie Marked gene: GRM1 as ready
Prepair 1000+ v1.624 GRM1 Lilian Downie Gene: grm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.624 GRM1 Lilian Downie Publications for gene: GRM1 were set to 22901947; 26308914; 31319223
Prepair 1000+ v1.624 GRM1 Lilian Downie Publications for gene: GRM1 were set to
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Marked gene: GTF2H5 as ready
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Gene: gtf2h5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Phenotypes for gene: GTF2H5 were changed from Trichothiodystrophy 3, photosensitive, 616395 (3) to Trichothiodystrophy 3, photosensitive, MIM# 616395
Prepair 1000+ v1.622 GTF2H5 Lilian Downie Publications for gene: GTF2H5 were set to
Prepair 1000+ v1.621 GUCY1A3 Lilian Downie Marked gene: GUCY1A3 as ready
Prepair 1000+ v1.621 GUCY1A3 Lilian Downie Gene: gucy1a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.621 GUCY1A3 Lilian Downie Publications for gene: GUCY1A3 were set to
Prepair 1000+ v1.620 ATF6 Lilian Downie Marked gene: ATF6 as ready
Prepair 1000+ v1.620 ATF6 Lilian Downie Gene: atf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.620 ATF6 Lilian Downie Phenotypes for gene: ATF6 were changed from Achromatopsia 7, 616517 (3), Autosomal recessive to Achromatopsia 7, MIM# 616517
Prepair 1000+ v1.619 ATF6 Lilian Downie Publications for gene: ATF6 were set to
Prepair 1000+ v1.618 B4GALNT1 Lilian Downie Marked gene: B4GALNT1 as ready
Prepair 1000+ v1.618 B4GALNT1 Lilian Downie Gene: b4galnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.618 B4GALNT1 Lilian Downie Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, MIM# 609195 to Spastic paraplegia 26, MIM# 609195
Prepair 1000+ v1.617 B4GALNT1 Lilian Downie Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive, 609195 (3) to Spastic paraplegia 26, MIM# 609195
Prepair 1000+ v1.616 B4GALNT1 Lilian Downie Publications for gene: B4GALNT1 were set to
Prepair 1000+ v1.615 LARP7 Lilian Downie Marked gene: LARP7 as ready
Prepair 1000+ v1.615 LARP7 Lilian Downie Gene: larp7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.615 LARP7 Lilian Downie Phenotypes for gene: LARP7 were changed from Alazami syndrome, 615071 (3) to Alazami syndrome MIM#615071
Prepair 1000+ v1.614 LARP7 Lilian Downie Publications for gene: LARP7 were set to
Prepair 1000+ v1.613 MMAB Andrew Coventry reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12471062, 24813872, 16410054; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.613 FKBP10 Lilian Downie Marked gene: FKBP10 as ready
Prepair 1000+ v1.613 FKBP10 Lilian Downie Gene: fkbp10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.613 FKBP10 Lilian Downie Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1, 259450 (3) to Bruck syndrome MIM#259450; osteogenesis imperfecta, type XI, MIM#610968
Prepair 1000+ v1.612 FKBP10 Lilian Downie Publications for gene: FKBP10 were set to
Prepair 1000+ v1.611 LBR Lilian Downie Marked gene: LBR as ready
Prepair 1000+ v1.611 LBR Lilian Downie Gene: lbr has been classified as Green List (High Evidence).
Prepair 1000+ v1.611 LBR Lilian Downie Added comment: Comment on phenotypes: See detailed ClinGen curation these phenotypes have been split.
Prepair 1000+ v1.611 LBR Lilian Downie Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019 to Greenberg skeletal dysplasia MIM#215140; Regressive Spondylometaphyseal Dysplasia MIM#618019)
Prepair 1000+ v1.610 LBR Lilian Downie Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia, 215140 (3) to Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019
Prepair 1000+ v1.609 LBR Lilian Downie Publications for gene: LBR were set to
Prepair 1000+ v1.608 GM2A Kate Scarff reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM #272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.608 MBTPS1 Lilian Downie Marked gene: MBTPS1 as ready
Prepair 1000+ v1.608 MBTPS1 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.608 MBTPS1 Lilian Downie Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.608 MGP Lilian Downie Marked gene: MGP as ready
Prepair 1000+ v1.608 MGP Lilian Downie Gene: mgp has been classified as Green List (High Evidence).
Prepair 1000+ v1.608 MGP Lilian Downie Publications for gene: MGP were set to
Prepair 1000+ v1.607 BIN1 Lilian Downie Marked gene: BIN1 as ready
Prepair 1000+ v1.607 BIN1 Lilian Downie Gene: bin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.607 BIN1 Lilian Downie Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive, 255200 (3) to Centronuclear myopathy 2, MIM# 255200
Prepair 1000+ v1.606 BIN1 Lilian Downie Publications for gene: BIN1 were set to
Prepair 1000+ v1.605 FREM2 Lilian Downie Marked gene: FREM2 as ready
Prepair 1000+ v1.605 FREM2 Lilian Downie Gene: frem2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.605 FREM2 Lilian Downie Publications for gene: FREM2 were set to
Prepair 1000+ v1.604 BMPER Lilian Downie Marked gene: BMPER as ready
Prepair 1000+ v1.604 BMPER Lilian Downie Gene: bmper has been classified as Green List (High Evidence).
Prepair 1000+ v1.604 BMPER Lilian Downie Publications for gene: BMPER were set to
Prepair 1000+ v1.603 ATP6AP1 Lilian Downie Marked gene: ATP6AP1 as ready
Prepair 1000+ v1.603 ATP6AP1 Lilian Downie Gene: atp6ap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.603 ATP6AP1 Lilian Downie Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, 300972 (3), X-linked recessive to Immunodeficiency 47, MIM#300972
Prepair 1000+ v1.602 ATP6AP1 Lilian Downie Publications for gene: ATP6AP1 were set to
Prepair 1000+ v1.601 BBS5 Lilian Downie Marked gene: BBS5 as ready
Prepair 1000+ v1.601 BBS5 Lilian Downie Gene: bbs5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.601 BBS5 Lilian Downie Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983
Prepair 1000+ v1.600 BBS5 Lilian Downie Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, 615983 (3) to Bardet-Biedl syndrome 5, MIM#615983
Prepair 1000+ v1.599 BBS5 Lilian Downie Publications for gene: BBS5 were set to
Prepair 1000+ v1.598 BCKDHA Lilian Downie Marked gene: BCKDHA as ready
Prepair 1000+ v1.598 BCKDHA Lilian Downie Gene: bckdha has been classified as Green List (High Evidence).
Prepair 1000+ v1.598 BCKDHA Lilian Downie Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia, 248600 (3) to Maple syrup urine disease, type Ia, MIM# 248600
Prepair 1000+ v1.597 BCKDHA Lilian Downie Publications for gene: BCKDHA were set to
Prepair 1000+ v1.596 CA2 Lilian Downie Marked gene: CA2 as ready
Prepair 1000+ v1.596 CA2 Lilian Downie Gene: ca2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.596 CA2 Lilian Downie Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Prepair 1000+ v1.595 CA2 Lilian Downie Publications for gene: CA2 were set to
Prepair 1000+ v1.594 CCDC115 Lilian Downie Marked gene: CCDC115 as ready
Prepair 1000+ v1.594 CCDC115 Lilian Downie Gene: ccdc115 has been classified as Green List (High Evidence).
Prepair 1000+ v1.594 CCDC115 Lilian Downie Phenotypes for gene: CCDC115 were changed from Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIo, MIM#616828
Prepair 1000+ v1.593 CCDC115 Lilian Downie Publications for gene: CCDC115 were set to
Prepair 1000+ v1.592 CCDC115 Melanie Marty reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: None
Prepair 1000+ v1.592 PIEZO1 Zornitza Stark Tag for review tag was added to gene: PIEZO1.
Prepair 1000+ v1.592 CA2 Melanie Marty reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 BCKDHA Melanie Marty reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7883996, 7672509, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 BBS5 Melanie Marty reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 ATP6AP1 Melanie Marty reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231034, 32048120; Phenotypes: Immunodeficiency 47, MIM#300972; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.592 ALDOB Melanie Marty reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 3083321; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 GCH1 Lilian Downie Marked gene: GCH1 as ready
Prepair 1000+ v1.592 GCH1 Lilian Downie Added comment: Comment when marking as ready: Biallelic variants in GCH1 typically result in severe deficiency of GTPCH activity, and result in hyperphenylalaninemia due to secondary PAH deficiency. This can be identified by newborn screening. However, patients with phenotypes that are intermediate between the classic DRD and severe GTPCH deficiency symptoms have been described, such those with severe DRD and additional neurological features but without hyperphenylalaninemia (for review, see Table in Brüggemann et al 2012, PMID 22473768). Because the mechanism of disease in both the monoallelic and biallelic cases is loss of function of GTPCH, and there is a range of GTPCH activity that can cause disease, the decision was made to curate GCH1 for GTPCH deficiency with semi-dominant inheritance. Note that heterozygous parents of biallelic individuals are usually reported as unaffected, although there are some exceptions (Furukawa et al, 1998, PMID 9667588; Bodzioch et al, 2010, PMID 20842687). Reduced penetrance has been reported for individuals with monoallelic GCH1 variants, with penetrance varying according to age and diagnostic criteria. In addition, some variants (e.g. p.Arg184His and p.Lys224Arg) have been reported in monallelic and biallelic individuals. This data was presented to the ClinGen Lumping and Splitting Working Group on November 3, 2020 and there was agreement that GTPCH deficiency should be curated as a semi-dominant trait, including individuals with monoallelic and biallelic GCH1 variants.
Prepair 1000+ v1.592 GCH1 Lilian Downie Gene: gch1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.592 GCH1 Lilian Downie Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) to GTP cyclohydrolase I deficiency MONDO:0100184
Prepair 1000+ v1.591 GCH1 Lilian Downie Publications for gene: GCH1 were set to
Prepair 1000+ v1.590 ALS2 Lilian Downie Marked gene: ALS2 as ready
Prepair 1000+ v1.590 ALS2 Lilian Downie Gene: als2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.590 ALS2 Lilian Downie Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353 (3) to ALS2-related motor neuron disease (MONDO:0100227)
Prepair 1000+ v1.589 ALS2 Lilian Downie Publications for gene: ALS2 were set to
Prepair 1000+ v1.588 F7 Lilian Downie Marked gene: F7 as ready
Prepair 1000+ v1.588 F7 Lilian Downie Gene: f7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.588 FARS2 Lilian Downie Marked gene: FARS2 as ready
Prepair 1000+ v1.588 FARS2 Lilian Downie Gene: fars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.588 FARS2 Lilian Downie Phenotypes for gene: FARS2 were changed from Combined oxidative phosphorylation deficiency 14, 614946 (3) to Combined oxidative phosphorylation deficiency 14 (MIM#614946); Spastic paraplegia 77 (MIM#617046)
Prepair 1000+ v1.587 FARS2 Lilian Downie Publications for gene: FARS2 were set to
Prepair 1000+ v1.586 FKRP Lilian Downie Marked gene: FKRP as ready
Prepair 1000+ v1.586 FKRP Lilian Downie Gene: fkrp has been classified as Green List (High Evidence).
Prepair 1000+ v1.586 FKRP Lilian Downie Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Myopathy caused by variation in FKRP MONDO:0700066
Prepair 1000+ v1.585 FKRP Lilian Downie Publications for gene: FKRP were set to 38277301
Prepair 1000+ v1.584 FKRP Lilian Downie Publications for gene: FKRP were set to
Prepair 1000+ v1.583 FLVCR1 Lilian Downie Marked gene: FLVCR1 as ready
Prepair 1000+ v1.583 FLVCR1 Lilian Downie Gene: flvcr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.583 FLVCR1 Lilian Downie Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033 (3) to Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Prepair 1000+ v1.582 FLVCR1 Lilian Downie Publications for gene: FLVCR1 were set to
Prepair 1000+ v1.581 C8B Lauren Thomas reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 7980680, 27183977, 15565265; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 GCH1 Cassandra Muller reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10737119, 9667588; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 BMPER Lauren Thomas reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: 20869035, 30006055, 15988748, 17764081; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 FREM2 Cassandra Muller reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 8203166, 36720431, 33082983; Phenotypes: Fraser syndrome, 219000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 BIN1 Lauren Thomas reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042, 20142620; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 CD27 Zornitza Stark Marked gene: CD27 as ready
Prepair 1000+ v1.581 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Prepair 1000+ v1.581 CD27 Zornitza Stark Phenotypes for gene: CD27 were changed from Lymphoproliferative syndrome 2, 615122 (3) to Lymphoproliferative syndrome 2, MIM# 615122
Prepair 1000+ v1.580 CD27 Zornitza Stark Publications for gene: CD27 were set to
Prepair 1000+ v1.579 CD27 Zornitza Stark reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, MIM# 615122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.579 MGP Andrew Coventry reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37675773; Phenotypes: Keutel syndrome MIM#245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.579 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Prepair 1000+ v1.579 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.579 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4, 613327 (3) to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Prepair 1000+ v1.578 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Prepair 1000+ v1.577 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.577 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Prepair 1000+ v1.577 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.577 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3, 602347 (3) to Cholestasis, progressive familial intrahepatic 3 MIM#602347
Prepair 1000+ v1.576 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Prepair 1000+ v1.575 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.575 MBTPS1 Andrew Coventry reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420688, 30046013, 32857899, 36330313, 36816387, 36714646; Phenotypes: Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.575 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Prepair 1000+ v1.575 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.575 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from Desbuquois dysplasia, 251450 (3) to Desbuquois dysplasia 1, MIM# 251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Prepair 1000+ v1.574 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Prepair 1000+ v1.573 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1, MIM# 251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.573 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Prepair 1000+ v1.573 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.573 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Prepair 1000+ v1.572 LBR Marta Cifuentes Ochoa reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618959, 27604308, 29068549, 32304187; Phenotypes: Greenberg skeletal dysplasia MIM#215140, MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.572 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Prepair 1000+ v1.571 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.571 FKBP10 Cassandra Muller Deleted their comment
Prepair 1000+ v1.571 FKBP10 Cassandra Muller edited their review of gene: FKBP10: Added comment: Severe, early onset. Early-onset bone fractures and progressive skeletal deformities. Well established gene-disease association.; Changed phenotypes: Bruck syndrome 1, 259450 (3), osteogenesis imperfecta, type XI, 610968 (3)
Prepair 1000+ v1.571 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Prepair 1000+ v1.571 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Prepair 1000+ v1.571 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, 613559 (3) to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM#615035
Prepair 1000+ v1.570 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Prepair 1000+ v1.569 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Prepair 1000+ v1.569 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM#615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.569 FKBP10 Cassandra Muller reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362275, 22718341, 22689593, 22718341; Phenotypes: Bruck syndrome 1, 259450 (3), steogenesis imperfecta, type XI, 610968 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.569 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Prepair 1000+ v1.569 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.569 BMPR1B Zornitza Stark Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive to Acromesomelic dysplasia 3, MIM# 609441
Prepair 1000+ v1.568 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Prepair 1000+ v1.567 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia 3, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.567 MALT1 Andrew Coventry reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM#615468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.567 BLM Zornitza Stark Marked gene: BLM as ready
Prepair 1000+ v1.567 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Prepair 1000+ v1.567 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900
Prepair 1000+ v1.566 BLM Zornitza Stark Publications for gene: BLM were set to
Prepair 1000+ v1.565 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.565 APTX Zornitza Stark Marked gene: APTX as ready
Prepair 1000+ v1.565 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Prepair 1000+ v1.565 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Prepair 1000+ v1.564 APTX Zornitza Stark Publications for gene: APTX were set to
Prepair 1000+ v1.563 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.563 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Prepair 1000+ v1.563 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.563 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic, 603147 (3) to Congenital disorder of glycosylation, type Ic (MIM#603147)
Prepair 1000+ v1.562 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Prepair 1000+ v1.561 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.561 LARP7 Andrew Coventry reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.561 AGPS Zornitza Stark Marked gene: AGPS as ready
Prepair 1000+ v1.561 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Prepair 1000+ v1.561 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Prepair 1000+ v1.560 AGPS Zornitza Stark Publications for gene: AGPS were set to
Prepair 1000+ v1.559 AGPS Zornitza Stark reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.559 FA2H Cassandra Muller reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.559 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Prepair 1000+ v1.559 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.559 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750
Prepair 1000+ v1.558 ACAT1 Zornitza Stark Publications for gene: ACAT1 were set to
Prepair 1000+ v1.557 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236799, 1715688; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 B4GALNT1 Lauren Thomas reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, MIM# 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 ATF6 Lauren Thomas reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 FOXP3 Lilian Downie Marked gene: FOXP3 as ready
Prepair 1000+ v1.557 FOXP3 Lilian Downie Gene: foxp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.557 FOXP3 Lilian Downie Publications for gene: FOXP3 were set to
Prepair 1000+ v1.556 ACE Lilian Downie Marked gene: ACE as ready
Prepair 1000+ v1.556 ACE Lilian Downie Gene: ace has been classified as Green List (High Evidence).
Prepair 1000+ v1.556 ACE Lilian Downie Publications for gene: ACE were set to
Prepair 1000+ v1.555 EYS Lilian Downie Publications for gene: EYS were set to 31074760; 20537394; 31074760
Prepair 1000+ v1.554 EYS Lilian Downie Publications for gene: EYS were set to 31074760
Prepair 1000+ v1.553 GUCY1A3 Ee Ming Wong reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36941667; Phenotypes: Moyamoya 6 with achalasia, MIM#615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GTF2H5 Ee Ming Wong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GRM1 Ee Ming Wong reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13, 614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GPAA1 Ee Ming Wong reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GNS Ee Ming Wong reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GLDC Crystle Lee reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36817643, 34513771; Phenotypes: Glycine encephalopathy1 (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 GAMT Crystle Lee reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33996490, 38469086; Phenotypes: Cerebral creatine deficiency syndrome 2 (MIM#612736); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 ESCO2 Crystle Lee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome (MIM#216100), Roberts-SC phocomelia syndrome (MIM#268300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 EIF2B5 Crystle Lee reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20975056, 37674283, 25761052; Phenotypes: Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 DPH1 Crystle Lee reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166428, 33704902; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair (MIM#616901); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 G6PC Lilian Downie Marked gene: G6PC as ready
Prepair 1000+ v1.553 G6PC Lilian Downie Gene: g6pc has been classified as Green List (High Evidence).
Prepair 1000+ v1.553 G6PC Lilian Downie Publications for gene: G6PC were set to
Prepair 1000+ v1.552 GNB5 Lilian Downie Marked gene: GNB5 as ready
Prepair 1000+ v1.552 GNB5 Lilian Downie Gene: gnb5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.552 GNB5 Lilian Downie Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Prepair 1000+ v1.551 GNB5 Lilian Downie Publications for gene: GNB5 were set to
Prepair 1000+ v1.550 GNPAT Lilian Downie Marked gene: GNPAT as ready
Prepair 1000+ v1.550 GNPAT Lilian Downie Gene: gnpat has been classified as Green List (High Evidence).
Prepair 1000+ v1.550 GNPAT Lilian Downie Phenotypes for gene: GNPAT were changed from Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) to Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)
Prepair 1000+ v1.549 GNPAT Lilian Downie Publications for gene: GNPAT were set to
Prepair 1000+ v1.548 CLN3 Lilian Downie Publications for gene: CLN3 were set to 7553855; 31926949
Prepair 1000+ v1.547 CLN3 Lilian Downie Tag SV/CNV tag was added to gene: CLN3.
Prepair 1000+ v1.547 CLN3 Marta Cifuentes Ochoa reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 9004140, 9311735, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 CLN3 Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.547 GNPAT Ee Ming Wong reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 GNB5 Ee Ming Wong reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 G6PC Ee Ming Wong reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia (MIM# 232200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 EYS Cassandra Muller reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: 20537394, 31074760; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 ACE Lauren Rogers reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 FOXP3 Ee Ming Wong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (MIM#304790); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.547 FLVCR1 Ee Ming Wong reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 FKRP Ee Ming Wong reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38277301; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153), Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 FARS2 Ee Ming Wong reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30869852; Phenotypes: Combined oxidative phosphorylation deficiency 14 (MIM#614946), Spastic paraplegia 77 (MIM#617046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 F7 Ee Ming Wong reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor VII deficiency, MIM# 227500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 ITCH Zornitza Stark Marked gene: ITCH as ready
Prepair 1000+ v1.547 ITCH Zornitza Stark Gene: itch has been classified as Green List (High Evidence).
Prepair 1000+ v1.547 ITCH Zornitza Stark Publications for gene: ITCH were set to
Prepair 1000+ v1.546 ITCH Zornitza Stark reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALS2 Lauren Thomas edited their review of gene: ALS2: Changed phenotypes: ALS2-related motor neuron disease (MONDO:0100227)
Prepair 1000+ v1.546 IMPG2 Zornitza Stark Tag for review tag was added to gene: IMPG2.
Prepair 1000+ v1.546 FAM161A Lisa Norbart reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ARX Lisa Norbart reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14722918, 12379852, 19738637, 32519823, 28150386; Phenotypes: Developmental and epileptic encephalopathy 1, MIM#30835, Hydranencephaly with abnormal genitalia, MIM#300215, Intellectual developmental disorder, X-linked 29, MIM#300419, Lissencephaly, X-linked 2, MIM#300215, Partington syndrome, MIM#309510, Proud syndrome, MIM#300004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 LAMB3 Andrew Coventry reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7706760, 10577906, 17476356, 7698759, 11023379; Phenotypes: Epidermolysis bullosa, junctional 1A, intermediate MIM#226650, Epidermolysis bullosa, junctional 1B, severe MIM#226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KLHL40 Andrew Coventry reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive MIM#615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KCNQ1 Andrew Coventry changed review comment from: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).
Definitive by ClinGen
Moue model present and functional studies.

Note: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160); to: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).
Definitive by ClinGen
Mouse model present and functional studies.

Note: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160)
Prepair 1000+ v1.546 KCNQ1 Andrew Coventry reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9020846, 29037160, 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 JAM3 Andrew Coventry reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224, 34292449; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ITCH Andrew Coventry reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405, 9462731, 9462742; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IQCB1 Andrew Coventry reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5 MIM#609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ASS1 Lauren Thomas reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135652, 15334737; Phenotypes: Citrullinaemia (MIM# 215700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALS2 Lauren Thomas reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24315819, 12601111, 30128655, 33409823; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALG1 Lauren Thomas reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382, 24157261, 14973782; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALDH5A1 Lauren Thomas reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538, 32887777; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 INSR Andrew Coventry reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 11735220, 12023989, 13302174, 10084586; Phenotypes: Donohue syndrome MIM#246200, Rabson-Mendenhall syndrome MIM#262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IMPG2 Andrew Coventry changed review comment from: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.; to: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.
Prepair 1000+ v1.546 IMPG2 Andrew Coventry reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20673862, 32242237, 37806544, 36206764, 38217426, 32817297, 24876279, 31264916, 34990796; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 LAMA3 Lisa Norbart reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional 2B, severe (MIM#619784), 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660), Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IFNGR1 Andrew Coventry changed review comment from: Multiple families with recessive disease reported, reviewed in PMID 15589309.
Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.

Note: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978.
Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Common deletions at and around nucleotide 818. (PMID: 10192386); to: Multiple families with recessive disease reported, reviewed in PMID 15589309.
Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.

Note: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978.
Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Deletions including nucleotide 818 reported. (PMID: 10192386)
Prepair 1000+ v1.546 IFNGR1 Andrew Coventry reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15589309, 10192386, 7815885, 12244188, 10811850, 9389728; Phenotypes: Immunodeficiency 27A, mycobacteriosis, MIM#209950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GTPBP3 Andrew Coventry reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GLE1 Kate Scarff reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925, 32537934; Phenotypes: Congenital arthrogryposis with anterior horn cell disease, MIM #611890, Lethal congenital contracture syndrome 1, MIM #253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDI1 Kate Scarff reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41, MIM #300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 GDF1 Kate Scarff reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32144877, 20413652, 28991257; Phenotypes: Right atrial isomerism (Ivemark), MIM #208530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDAP1 Kate Scarff reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301711, 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FTCD Kate Scarff reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29178637; Phenotypes: Glutamate formiminotransferase deficiency, MIM #229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FMR1 Kate Scarff reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301558, 28176767, 29178241; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 FBXO7 Kate Scarff reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34396589, 20301402, 18513678, 34781237, 19038853; Phenotypes: Parkinson disease 15, autosomal recessive, MIM #260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 EIF2B2 Kate Scarff reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14566705, 21484434, 28041799, 11704758; Phenotypes: Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Prepair 1000+ v1.545 EFEMP2 Kate Scarff reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21563328, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, MIM #614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 TMEM94 Lucy Spencer edited their review of gene: TMEM94: Changed publications: 30526868, 32825426
Prepair 1000+ v1.545 TMEM94 Lucy Spencer reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526868; Phenotypes: Intellectual developmental disorder with cardiac defects and dysmorphic facies MIM#618316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 DCDC2 Kate Scarff reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705, 27319779, 27469900, 36938759, 34155636; Phenotypes: Nephronophthisis 19, MIM #616217, Sclerosing cholangitis, neonatal, MIM #617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 CWC27 Kate Scarff reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36718996, 28285769, 31481716, 38956876, 34828430; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 PFKM Lucy Spencer reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 22364848; Phenotypes: Glycogen storage disease VII MIM#232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 OFD1 Lucy Spencer reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22619378, 31373179, 23033313, 16783569; Phenotypes: Joubert syndrome 10 MIM#300804, Simpson-Golabi-Behmel syndrome, type 2 MIM#300209, Retinitis pigmentosa 23 MIM#300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.545 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Prepair 1000+ v1.545 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.545 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio), 253010 (3) to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Prepair 1000+ v1.544 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6, 614018 (3) to Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166
Prepair 1000+ v1.542 GOSR2 Zornitza Stark Publications for gene: GOSR2 were set to
Prepair 1000+ v1.541 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive, MIM# 604360 to Hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.540 CTSA Zornitza Stark Marked gene: CTSA as ready
Prepair 1000+ v1.540 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Prepair 1000+ v1.540 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from Galactosialidosis, 256540 (3) to Galactosialidosis MIM#256540
Prepair 1000+ v1.539 CTSA Zornitza Stark Publications for gene: CTSA were set to
Prepair 1000+ v1.538 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Prepair 1000+ v1.538 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.538 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Prepair 1000+ v1.537 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Prepair 1000+ v1.537 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.537 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3, 608629 (3) to Joubert syndrome 3 MIM#608629
Prepair 1000+ v1.536 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from Nephronophthisis 16, 615382 (3) to Nephronophthisis 16 MIM#615382
Prepair 1000+ v1.534 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Prepair 1000+ v1.533 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Prepair 1000+ v1.533 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.533 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, 615986 (3) to Bardet-Biedl syndrome 9 MIM#615986
Prepair 1000+ v1.532 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299
Prepair 1000+ v1.530 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Prepair 1000+ v1.529 CASR Zornitza Stark Marked gene: CASR as ready
Prepair 1000+ v1.529 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Prepair 1000+ v1.529 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal, 239200 (3) to Hyperparathyroidism, neonatal MIM#239200
Prepair 1000+ v1.528 CASR Zornitza Stark Publications for gene: CASR were set to
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Prepair 1000+ v1.525 FYCO1 Zornitza Stark Tag review tag was added to gene: FYCO1.
Prepair 1000+ v1.525 SPG11 Lucy Spencer edited their review of gene: SPG11: Changed phenotypes: Hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.525 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

ClinGen lumps all 3 conditions under spastic paraplegia 11

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).; to: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).

These 3 conditions represent a spectrum of disease and ClinGen lumps all 3 conditions under hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.525 CTPS1 Zornitza Stark Tag founder tag was added to gene: CTPS1.
Prepair 1000+ v1.525 DMD Zornitza Stark Marked gene: DMD as ready
Prepair 1000+ v1.525 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Prepair 1000+ v1.525 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200 (3) to Becker muscular dystrophy MIM#300376; Duchenne muscular dystrophy MIM#310200
Prepair 1000+ v1.524 DMD Zornitza Stark Publications for gene: DMD were set to
Prepair 1000+ v1.523 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Prepair 1000+ v1.523 CTNS Zornitza Stark Marked gene: CTNS as ready
Prepair 1000+ v1.523 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Prepair 1000+ v1.523 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis, nephropathic, 219800 (3) to Cystinosis, nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, atypical nephropathic MIM#219800
Prepair 1000+ v1.522 CTNS Zornitza Stark Publications for gene: CTNS were set to
Prepair 1000+ v1.521 CTNS Zornitza Stark Tag SV/CNV tag was added to gene: CTNS.
Prepair 1000+ v1.521 TSPYL1 Zornitza Stark Tag review tag was added to gene: TSPYL1.
Prepair 1000+ v1.521 GOSR2 Andrew Coventry reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340 33639315 1549339 23449775 24458321 30838261 32105965; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, Muscular dystrophy, congenital, with or without seizures MIM#620166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 GLB1 Andrew Coventry reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34539759 24156116 16941474 17309651 25936995 32219518 1928092 33558080 10841810; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM#230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Ciliary dyskinesia, primary, 15, 613808 (3) to Ciliary dyskinesia, primary, 15 MIM#613808
Prepair 1000+ v1.520 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Prepair 1000+ v1.519 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Prepair 1000+ v1.519 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Prepair 1000+ v1.519 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence, 208150 (3) to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326; Fetal akinesia deformation sequence 2 MIM#618388
Prepair 1000+ v1.518 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Prepair 1000+ v1.517 REEP6 Zornitza Stark Marked gene: REEP6 as ready
Prepair 1000+ v1.517 REEP6 Zornitza Stark Gene: reep6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.517 REEP6 Zornitza Stark Phenotypes for gene: REEP6 were changed from Retinitis pigmentosa 77, 617304 (3), Autosomal recessive to Retinitis pigmentosa 77 MIM#617304
Prepair 1000+ v1.516 REN Zornitza Stark Marked gene: REN as ready
Prepair 1000+ v1.516 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Prepair 1000+ v1.516 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis, 267430 (3) to Renal tubular dysgenesis MIM#267430
Prepair 1000+ v1.515 RLIM Zornitza Stark Marked gene: RLIM as ready
Prepair 1000+ v1.515 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Prepair 1000+ v1.515 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from Mental retardation, X-linked 61, 300978 (3), X-linked recessive to Tonne-Kalscheuer syndrome MIM#300978
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive to Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 (3) to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease, type 4C, 601596 (3) to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome MIM#256500
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Tag SV/CNV tag was added to gene: TANGO2.
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from Ciliary dyskinesia, primary, 2, 606763 (3) to Ciliary dyskinesia, primary, 2, MIM#606763
Prepair 1000+ v1.508 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425
Prepair 1000+ v1.506 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Prepair 1000+ v1.505 FANCF Zornitza Stark Marked gene: FANCF as ready
Prepair 1000+ v1.505 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Prepair 1000+ v1.505 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467 (3) to Fanconi anaemia, complementation group F, MIM#603467
Prepair 1000+ v1.504 FANCF Zornitza Stark Publications for gene: FANCF were set to
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency, 613068 (3) to Neurodegeneration due to cerebral folate transport deficiency, MIM#613068
Prepair 1000+ v1.502 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) to Myasthenia, congenital, 12, with tubular aggregates, MIM#610542
Prepair 1000+ v1.500 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A, 276902 (3) to Usher syndrome, type 3A (MIM#276902)
Prepair 1000+ v1.498 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Marked gene: COL27A1 as ready
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Gene: col27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel Syndrome, MIM#615155
Prepair 1000+ v1.496 COL27A1 Zornitza Stark Publications for gene: COL27A1 were set to
Prepair 1000+ v1.495 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Prepair 1000+ v1.495 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.495 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Prepair 1000+ v1.494 DDC Zornitza Stark Marked gene: DDC as ready
Prepair 1000+ v1.494 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Prepair 1000+ v1.494 DDC Zornitza Stark Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 (3) to Aromatic L-amino acid decarboxylase deficiency 608643; Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Prepair 1000+ v1.493 DLD Zornitza Stark Marked gene: DLD as ready
Prepair 1000+ v1.493 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Prepair 1000+ v1.493 DLD Zornitza Stark Publications for gene: DLD were set to
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to