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| DDG2P v3.72 | DMPK_CTG | Achchuthan Shanmugasundram reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | GNAS |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).; to: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070). |
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| DDG2P v3.12 | ZSWIM6 | Achchuthan Shanmugasundram reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25105228; Phenotypes: ACROMELIC FRONTONASAL DYSOSTOSIS, OMIM:603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF750 | Achchuthan Shanmugasundram reviewed gene: ZNF750: Rating: GREEN; Mode of pathogenicity: ; Publications: 16751772; Phenotypes: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS, OMIM:610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF713 | Achchuthan Shanmugasundram reviewed gene: ZNF713: Rating: RED; Mode of pathogenicity: Other; Publications: 25196122; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF711 | Achchuthan Shanmugasundram reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ZNF711-RELATED, OMIM:300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF599 | Achchuthan Shanmugasundram reviewed gene: ZNF599: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF526 | Achchuthan Shanmugasundram reviewed gene: ZNF526: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF462 | Achchuthan Shanmugasundram reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610; Phenotypes: Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF407 | Achchuthan Shanmugasundram reviewed gene: ZNF407: Rating: RED; Mode of pathogenicity: Other; Publications: 24907849, 32737394; Phenotypes: ZNF407-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF292 | Achchuthan Shanmugasundram reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF292-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF148 | Achchuthan Shanmugasundram reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF148-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF142 | Achchuthan Shanmugasundram reviewed gene: ZNF142: Rating: GREEN; Mode of pathogenicity: ; Publications: 31036918, 35616059; Phenotypes: ZNF142-related neurodevelopmental disorder, OMIM:618425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYND8 | Achchuthan Shanmugasundram reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35916866; Phenotypes: ZMYND8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYND11 | Achchuthan Shanmugasundram reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27626064, 25281490, 25217958; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYND10 | Achchuthan Shanmugasundram reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23891471; Phenotypes: PRIMARY CILIARY DYSKINESIA-22, OMIM:615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYM6 | Achchuthan Shanmugasundram reviewed gene: ZMYM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYM3 | Achchuthan Shanmugasundram reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36586412; Phenotypes: ZMYM3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYM2 | Achchuthan Shanmugasundram reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: ZMYM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMPSTE24 | Achchuthan Shanmugasundram reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: 12913070; Phenotypes: LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED, OMIM:319186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMIZ1 | Achchuthan Shanmugasundram reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322; Phenotypes: Syndromic Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZIC3 | Achchuthan Shanmugasundram reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, OMIM:314390, HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZIC2 | Achchuthan Shanmugasundram reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9771712, 11479728, 21638761; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZIC1 | Achchuthan Shanmugasundram reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26340333; Phenotypes: CRANIOSYNOSTOSIS 6, OMIM:616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFYVE26 | Achchuthan Shanmugasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: 18098276, 11342696, 19805727, 17661097; Phenotypes: SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15, OMIM:270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFYVE19 | Achchuthan Shanmugasundram reviewed gene: ZFYVE19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32737136, 33853651; Phenotypes: ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFPM2 | Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: RED; Mode of pathogenicity: ; Publications: 16103912, 24549039; Phenotypes: DIAPHRAGMATIC HERNIA 3, OMIM:610187, ZFPM2-associated malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFP57 | Achchuthan Shanmugasundram reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 18622393; Phenotypes: DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL, OMIM:601410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFHX4 | Achchuthan Shanmugasundram reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935336, 33057194; Phenotypes: ZFHX4-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFHX3 | Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: ; Publications: 32502225, 30809043; Phenotypes: ZFHX3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZEB2 | Achchuthan Shanmugasundram reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532472, 11595972, 9719364, 16688751, 11891681, 11592033, 12920073, 12451214, 16088920, 11279515; Phenotypes: MOWAT-WILSON SYNDROME, OMIM:235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZEB1 | Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6, OMIM:613270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZDHHC9 | Achchuthan Shanmugasundram reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26000327, 17436253; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED ZDHHC9-RELATED, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZDHHC15 | Achchuthan Shanmugasundram reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: ; Publications: 15915161; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 91, OMIM:300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZCCHC8 | Achchuthan Shanmugasundram reviewed gene: ZCCHC8: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZC4H2 | Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 4039531, 1915520, 31206972, 36250278, 23623388; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, OMIM:314580, ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous, OMIM: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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB7A | Achchuthan Shanmugasundram reviewed gene: ZBTB7A: Rating: RED; Mode of pathogenicity: ; Publications: 31645653, 34515416; Phenotypes: ZBTB7A-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB40 | Achchuthan Shanmugasundram reviewed gene: ZBTB40: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB20 | Achchuthan Shanmugasundram reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25017102; Phenotypes: PRIMROSE SYNDROME, OMIM:259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB18 | Achchuthan Shanmugasundram reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZBTB18 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZBTB16 | Achchuthan Shanmugasundram reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YY1 | Achchuthan Shanmugasundram reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28575647, 21076407; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YWHAG | Achchuthan Shanmugasundram reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777935; Phenotypes: Early-Onset Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YRDC | Achchuthan Shanmugasundram reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: YRDC-associated nephrotic syndrome and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YARS2 | Achchuthan Shanmugasundram reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23918765, 30026338, 20598274; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YAP1 | Achchuthan Shanmugasundram reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462371, 27267789; Phenotypes: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XYLT2 | Achchuthan Shanmugasundram reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26987875, 28884924, 26027496, 29136277; Phenotypes: SPONDYLOOCULAR SYNDROME, OMIM:605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XYLT1 | Achchuthan Shanmugasundram reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24581741, 30554721; Phenotypes: DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XRCC4 | Achchuthan Shanmugasundram reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728776; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XPNPEP3 | Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: 20179356; Phenotypes: NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1, OMIM:613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XPC | Achchuthan Shanmugasundram reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662655, 8298653, 19478817, 11511294, 9804340, 11121128; Phenotypes: XERODERMA PIGMENTOSUM, GROUP C, OMIM:278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XPA | Achchuthan Shanmugasundram reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 16098033, 1339397, 2234061, 10767341, 1372102; Phenotypes: XERODERMA PIGMENTOSUM, GROUP A, OMIM:278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WWOX | Achchuthan Shanmugasundram reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 24369382, 24456803; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OMIM:616211, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, OMIM:614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WT1 | Achchuthan Shanmugasundram reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8388765, 1302008, 10571943, 1327525, 9499425, 1658787, 1655284; Phenotypes: DENYS-DRASH SYNDROME, OMIM:194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WRAP53 | Achchuthan Shanmugasundram reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT7A | Achchuthan Shanmugasundram reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9128926, 20949531, 21344627, 21271649, 16826533; Phenotypes: WNT7A- associated skeletal malformations syndrome, OMIM:228930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT5A | Achchuthan Shanmugasundram reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19918918, 5771504; Phenotypes: WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT4 | Achchuthan Shanmugasundram reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18179883, 15317892; Phenotypes: MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, SERKAL SYNDROME, OMIM:611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT3 | Achchuthan Shanmugasundram reviewed gene: WNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: TETRA-AMELIA SYNDROME, OMIM:276069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT10B | Achchuthan Shanmugasundram reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635353, 12072797; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 6, OMIM:225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNT1 | Achchuthan Shanmugasundram reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23499309; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WNK3 | Achchuthan Shanmugasundram reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: WNK3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WFS1 | Achchuthan Shanmugasundram reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21067485, 25390390, 17568405, 22311385, 22226368, 10521293, 23373429, 15605410, 18806274, 14724730, 21726277, 11295831, 15151504, 18544103, 16442662, 21823543, 21564155, 15503287, 11161832, 22781099, 19042979, 15277431, 16648378, 12107816, 21623591, 15070927, 22238590, 21446023, 19160074, 23103830, 21538838, 21968327, 21602428, 9771706, 12707373, 11317648, 16151413, 20069065, 18660851, 20875904, 16459465; Phenotypes: Wolfram-like syndrome, autosomal dominant, OMIM:614296, WOLFRAM SYNDROME 1, OMIM:222300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR81 | Achchuthan Shanmugasundram reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: Other; Publications: 21885617; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR73 | Achchuthan Shanmugasundram reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: 25466283; Phenotypes: GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR62 | Achchuthan Shanmugasundram reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890279, 20890278, 20729831, 21834044, 10573015; Phenotypes: MICROCEPHALY CORTICAL MALFORMATIONS AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR60 | Achchuthan Shanmugasundram reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: 23910462; Phenotypes: SHORT-RIB POLYDACTYLY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR5 | Achchuthan Shanmugasundram reviewed gene: WDR5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36408368; Phenotypes: WDR5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR45B | Achchuthan Shanmugasundram reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503735, 35322404, 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR45 | Achchuthan Shanmugasundram reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612247, 28932395, 28371320, 30713886, 30539914, 23176820, 29981852, 26609730, 28551038, 31466010, 27030146, 26790960, 26240209, 28361255, 29171013, 29082105, 29681108, 29600274, 26022463, 27957548, 27681470; Phenotypes: WDR45-RELATED NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR4 | Achchuthan Shanmugasundram reviewed gene: WDR4: Rating: RED; Mode of pathogenicity: ; Publications: 30079490; Phenotypes: GALLOWAY-MOWAT SYNDROME 6, OMIM:618347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR37 | Achchuthan Shanmugasundram reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31327508, 31327510; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR35 | Achchuthan Shanmugasundram reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473986, 35875935, 20817137; Phenotypes: CRANIOECTODERMAL DYSPLASIA 2, OMIM:613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR34 | Achchuthan Shanmugasundram reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24183449; Phenotypes: SEVERE ASPHYXIATING THORACIC DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR26 | Achchuthan Shanmugasundram reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: ; Publications: 28686853; Phenotypes: Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features, OMIM:617616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR19 | Achchuthan Shanmugasundram reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19430947, 22019273; Phenotypes: CRANIOECTODERMAL DYSPLASIA 4, OMIM:614378, ASPHYXIATING THORACIC DYSTROPHY 5, OMIM:614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR11 | Achchuthan Shanmugasundram reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: WDR11-associated intellectual disability and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDPCP | Achchuthan Shanmugasundram reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BARDET-BIEDL SYNDROME TYPE 15, OMIM:615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDFY3 | Achchuthan Shanmugasundram reviewed gene: WDFY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327001; Phenotypes: Primary Microcephaly or macrocephaly with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WASHC5 | Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WASF1 | Achchuthan Shanmugasundram reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961568; Phenotypes: Intellectual Disability with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WARS | Achchuthan Shanmugasundram reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369220, 31321409, 31069783, 35815345; Phenotypes: WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WAC | Achchuthan Shanmugasundram reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26264232, 26757981, 35018708; Phenotypes: Desanto-Shinawi syndrome, OMIM:616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VSX2 | Achchuthan Shanmugasundram reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092, MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VRK1 | Achchuthan Shanmugasundram reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19646678; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS53 | Achchuthan Shanmugasundram reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: ; Publications: 30100179, 24577744; Phenotypes: Progressive cerebella-cerebral atrophy type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS4A | Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33186543, 33186545; Phenotypes: CIMDAG Syndrome, biallelic, CIMDAG Syndrome, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS33B | Achchuthan Shanmugasundram reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, OMIM:208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS13B | Achchuthan Shanmugasundram reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31580008; Phenotypes: COHEN SYNDROME, OMIM:216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VLDLR | Achchuthan Shanmugasundram reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 18326629, 18043714, 16080122; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 1, OMIM:224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VIPAS39 | Achchuthan Shanmugasundram reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, OMIM:613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VIP | Achchuthan Shanmugasundram reviewed gene: VIP: Rating: RED; Mode of pathogenicity: ; Publications: 23849776; Phenotypes: ASPERGER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VDR | Achchuthan Shanmugasundram reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: ; Publications: 3024987, 9005998, 9360557, 2557627, 11564167, 2177843, 17970811, 2558018, 2849209, 8675579, 8392085, 8961271; Phenotypes: RICKETS VITAMIN D-DEPENDENT TYPE 2A, OMIM:277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VCP | Achchuthan Shanmugasundram reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: VCP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VANGL1 | Achchuthan Shanmugasundram reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: Other; Publications: 17409324; Phenotypes: NEURAL TUBE DEFECTS, OMIM:182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VAMP2 | Achchuthan Shanmugasundram reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30929742; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VAC14 | Achchuthan Shanmugasundram reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: Other; Publications: 27292112; Phenotypes: Progressive neurological disorder and regression of developmental milestones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UVSSA | Achchuthan Shanmugasundram reviewed gene: UVSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UTP4 | Achchuthan Shanmugasundram reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: Other; Publications: 12417987; Phenotypes: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP9X | Achchuthan Shanmugasundram reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 24607389, 31443933, 26833328; Phenotypes: MRX99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP7 | Achchuthan Shanmugasundram reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679821, 26365382; Phenotypes: USP7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP27X | Achchuthan Shanmugasundram reviewed gene: USP27X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP18 | Achchuthan Shanmugasundram reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: ; Publications: 27325888; Phenotypes: Severe pseudo-TORCH syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP14 | Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USB1 | Achchuthan Shanmugasundram reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25044170, 23393019, 23190533; Phenotypes: Poikiloderma with neutropenia, OMIM:604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UROS | Achchuthan Shanmugasundram reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8946173, 19965637, 7860775, 2331520, 12060141, 1733834, 11254675, 9834209; Phenotypes: CONGENITAL ERYTHROPOIETIC PORPHYRIA, OMIM:263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UROC1 | Achchuthan Shanmugasundram reviewed gene: UROC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19304569; Phenotypes: UROCANASE DEFICIENCY, OMIM:276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UQCRQ | Achchuthan Shanmugasundram reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UQCRFS1 | Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UQCRB | Achchuthan Shanmugasundram reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED, OMIM:257827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UPF3B | Achchuthan Shanmugasundram reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704778; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 14, OMIM:300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UPF1 | Achchuthan Shanmugasundram reviewed gene: UPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: UPF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UNC80 | Achchuthan Shanmugasundram reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 26708753, 26708751; Phenotypes: Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UNC45B | Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217308; Phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UNC45A | Achchuthan Shanmugasundram reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575086; Phenotypes: Osteootohepatoenteric syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UMPS | Achchuthan Shanmugasundram reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: OROTIC ACIDURIA TYPE 1, OMIM:258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UHRF1 | Achchuthan Shanmugasundram reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: Other; Publications: 36458887; Phenotypes: UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UGT1A1 | Achchuthan Shanmugasundram reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497253, 9295054, 11968090, 9039987; Phenotypes: CRIGLER-NAJJAR SYNDROME, TYPE I, OMIM:218800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UGP2 | Achchuthan Shanmugasundram reviewed gene: UGP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31820119; Phenotypes: UGP2 Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFSP2 | Achchuthan Shanmugasundram reviewed gene: UFSP2: Rating: RED; Mode of pathogenicity: Other; Publications: 33473208; Phenotypes: UFSP2-associated developmental delay and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFM1 | Achchuthan Shanmugasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFC1 | Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBTF | Achchuthan Shanmugasundram reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777933; Phenotypes: Childhood-Onset Neurodegeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBR7 | Achchuthan Shanmugasundram reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 36757286, 33340455; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBR1 | Achchuthan Shanmugasundram reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006206, 16311597, 18553553; Phenotypes: JOHANSON-BLIZZARD SYNDROME, OMIM:243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE4A | Achchuthan Shanmugasundram reviewed gene: UBE4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33420346; Phenotypes: UBE4A-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE3B | Achchuthan Shanmugasundram reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23200864, 21567902; Phenotypes: BLEPHAROPHIMOSIS-INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE3A | Achchuthan Shanmugasundram reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1338769, 7905534, 8988171; Phenotypes: ANGELMAN SYNDROME, OMIM:105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE2T | Achchuthan Shanmugasundram reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, OMIM:616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE2A | Achchuthan Shanmugasundram reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UBE2A-RELATED X-LINKED SYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:319562; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBAP2L | Achchuthan Shanmugasundram reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 35977029; Phenotypes: UBAP2L-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBA5 | Achchuthan Shanmugasundram reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545681, 27545674; Phenotypes: Severe Infantile-Onset Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | U2AF2 | Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: U2AF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TYRP1 | Achchuthan Shanmugasundram reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15996218, 8651291, 19533799, 16704458; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 3, OMIM:203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TYR | Achchuthan Shanmugasundram reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679655, 8477259, 1970634, 2511845, 3081286, 28667292; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 1, OMIM:203100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TXNL4A | Achchuthan Shanmugasundram reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434003; Phenotypes: BURN MCKEOWN SYNDROME, OMIM:608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TWIST2 | Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14069095, 26119818, 21931173, 8818454; Phenotypes: SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TWIST1 | Achchuthan Shanmugasundram reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17343269, 8988166, 8988167, 9259286; Phenotypes: SAETHRE-CHOTZEN SYNDROME, OMIM:101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUSC3 | Achchuthan Shanmugasundram reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21739581, 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 7, OMIM:611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUFM | Achchuthan Shanmugasundram reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBGCP6 | Achchuthan Shanmugasundram reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBGCP4 | Achchuthan Shanmugasundram reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBGCP2 | Achchuthan Shanmugasundram reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31630790; Phenotypes: Microcephaly and Lissencephaly Spectrum Disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBG1 | Achchuthan Shanmugasundram reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: Posteriorly predominant pachygyria and severe microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB4A | Achchuthan Shanmugasundram reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23582646; Phenotypes: HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB3 | Achchuthan Shanmugasundram reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20074521, 20829227; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB2B | Achchuthan Shanmugasundram reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22333901, 19465910; Phenotypes: POLYMICROGYRIA ASYMMETRIC, OMIM:610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB2A | Achchuthan Shanmugasundram reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBB | Achchuthan Shanmugasundram reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23246003, 26637975; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBA8 | Achchuthan Shanmugasundram reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: 19896110; Phenotypes: POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OMIM:613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TUBA1A | Achchuthan Shanmugasundram reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21403111, 17218254, 18728072, 30016746, 17584854, 33649541, 18954413; Phenotypes: LISSENCEPHALY TYPE 3, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTN | Achchuthan Shanmugasundram reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31660661, 32778822, 29575618, 36495114, 29691892, 17444505, 35605965, 28040389; Phenotypes: Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTI2 | Achchuthan Shanmugasundram reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC8 | Achchuthan Shanmugasundram reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451172; Phenotypes: RETINITIS PIGMENTOSA TYPE 51, OMIM:613464, BARDET-BIEDL SYNDROME TYPE 8, OMIM:615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC7A | Achchuthan Shanmugasundram reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23423984; Phenotypes: INTESTINAL ATRESIA, MULTIPLE, OMIM:243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC5 | Achchuthan Shanmugasundram reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439809; Phenotypes: TTC5-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC37 | Achchuthan Shanmugasundram reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: 21120949, 20176027; Phenotypes: TRICHOHEPATOENTERIC SYNDROME, OMIM:222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC25 | Achchuthan Shanmugasundram reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486780; Phenotypes: Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC19 | Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, OMIM:124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC12 | Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSPAN7 | Achchuthan Shanmugasundram reviewed gene: TSPAN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655063, 10449641; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 58, OMIM:300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHZ1 | Achchuthan Shanmugasundram reviewed gene: TSHZ1: Rating: RED; Mode of pathogenicity: ; Publications: 22152683; Phenotypes: AURAL ATRESIA, CONGENITAL, OMIM:607842; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHR | Achchuthan Shanmugasundram reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9100579, 9589691, 7528344, 9329388, 9185526, 8954020, 11095460, 12050212, 10720030, 9854118; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSHB | Achchuthan Shanmugasundram reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 2792087; Phenotypes: HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OMIM:275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN54 | Achchuthan Shanmugasundram reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN34 | Achchuthan Shanmugasundram reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN2 | Achchuthan Shanmugasundram reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN15 | Achchuthan Shanmugasundram reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27392077; Phenotypes: Pontocerebellar Hypoplasia and Progressive Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSC2 | Achchuthan Shanmugasundram reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11403047, 9302281, 12752578, 10206124, 19259131, 9463313, 8824881, 10069705, 17120248, 9361032, 8825048, 8634701, 7581393; Phenotypes: TUBEROUS SCLEROSIS TYPE 2, OMIM:613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSC1 | Achchuthan Shanmugasundram reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9242607, 10823953, 10340649, 18830229, 10053179; Phenotypes: TUBEROUS SCLEROSIS TYPE 1, OMIM:191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRRAP | Achchuthan Shanmugasundram reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827496; Phenotypes: Autism and Syndromic Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPV6 | Achchuthan Shanmugasundram reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29861107; Phenotypes: Transient Neonatal Hyperparathyroidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPV4 | Achchuthan Shanmugasundram reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20425821, 19232556, 20577006, 21964829; Phenotypes: METATROPIC DYSPLASIA, OMIM:156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPV3 | Achchuthan Shanmugasundram reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22405088; Phenotypes: OLMSTED SYNDROME, OMIM:614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPS1 | Achchuthan Shanmugasundram reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14560312, 11359471, 10615131; Phenotypes: TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1, OMIM:190350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPM3 | Achchuthan Shanmugasundram reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36648066, 32439617, 34438093, 35146895, 31278393; Phenotypes: TRPM3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPM1 | Achchuthan Shanmugasundram reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19878917, 20300565, 19896113, 19896109; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C, OMIM:613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPC5 | Achchuthan Shanmugasundram reviewed gene: TRPC5: Rating: RED; Mode of pathogenicity: ; Publications: 36323681; Phenotypes: TRPC5-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRNT1 | Achchuthan Shanmugasundram reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25193871, 29170023, 27370603, 32592741, 33936027, 27389523, 32181284, 26494905, 33843817, 30758723; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRMT10C | Achchuthan Shanmugasundram reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132592; Phenotypes: Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRMT10A | Achchuthan Shanmugasundram reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26526202, 25053765, 24204302, 26535115; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRMT1 | Achchuthan Shanmugasundram reviewed gene: TRMT1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIT1 | Achchuthan Shanmugasundram reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 28185376, 32948376, 31140736, 24901367; Phenotypes: tRNA isopentenyltransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP4 | Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP13 | Achchuthan Shanmugasundram reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: 28553959; Phenotypes: Mosaic Variegated Aneuploidy and Wilms Tumour; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP12 | Achchuthan Shanmugasundram reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27848077, 31814248, 28251352, 36747006; Phenotypes: TRIP12-related intellectual disability with/without autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP11 | Achchuthan Shanmugasundram reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20089971; Phenotypes: ACHONDROGENESIS TYPE 1A, OMIM:200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIO | Achchuthan Shanmugasundram reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26235986, 27418539, 28928363, 32109419; Phenotypes: INTELLECTUAL DISABILITY, OMIM:601893; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIM8 | Achchuthan Shanmugasundram reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32531461, 30244534, 27346735, 33508234; Phenotypes: TRIM8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIM37 | Achchuthan Shanmugasundram reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULIBREY NANISM, OMIM:253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIM32 | Achchuthan Shanmugasundram reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: 11822024, 17994549, 16606853; Phenotypes: BARDET-BIEDL SYNDROME TYPE 11, OMIM:615988, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H, OMIM:254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TREX1 | Achchuthan Shanmugasundram reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17357087, 16845398; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OMIM:225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC9 | Achchuthan Shanmugasundram reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004764, 20004763, 22549410, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 13, OMIM:613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC4 | Achchuthan Shanmugasundram reviewed gene: TRAPPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33011761, 32125366, 31794024; Phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2L | Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2 | Achchuthan Shanmugasundram reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OMIM:313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC12 | Achchuthan Shanmugasundram reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777934; Phenotypes: Progressive Childhood Encephalopathy and Golgi Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC11 | Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23830518; Phenotypes: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC10 | Achchuthan Shanmugasundram reviewed gene: TRAPPC10: Rating: RED; Mode of pathogenicity: Other; Publications: 30167849; Phenotypes: TRAPPC10-associated intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAIP | Achchuthan Shanmugasundram reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26595769; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAF7 | Achchuthan Shanmugasundram reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29961569; Phenotypes: Developmental Delay Congenital Anomalies and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRA2B | Achchuthan Shanmugasundram reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36549593; Phenotypes: TRA2B-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPRKB | Achchuthan Shanmugasundram reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPP2 | Achchuthan Shanmugasundram reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33586135, 25414442, 25525876; Phenotypes: TPP2-related immune deficiency, autoimmune disease and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPP1 | Achchuthan Shanmugasundram reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10330339, 17959406, 12376936, 12414822, 9295267, 10665500; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 2, OMIM:204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM3 | Achchuthan Shanmugasundram reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33768912, 24692096; Phenotypes: Nemaline/Cap myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM2 | Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TP73 | Achchuthan Shanmugasundram reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761; Phenotypes: TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TP63 | Achchuthan Shanmugasundram reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 14684701, 15736220, 19530185, 10535733, 12939657, 11528512, 12766194, 12838557, 11462173, 9443880, 17609671, 21204238, 11159940, 16740912, 10886756, 3366140, 11929852, 19239083, 16724007, 10839977, 16114047; Phenotypes: LIMB-MAMMARY SYNDROME, OMIM:603543, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, OMIM:106260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TP53RK | Achchuthan Shanmugasundram reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 30053862; Phenotypes: GALLOWAY-MOWAT SYNDROME 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TOP3A | Achchuthan Shanmugasundram reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TOGARAM1 | Achchuthan Shanmugasundram reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32747439, 32453716; Phenotypes: TOGARAM1-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TOE1 | Achchuthan Shanmugasundram reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 28092684; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNRC6B | Achchuthan Shanmugasundram reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32152250; Phenotypes: TNRC6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNPO2 | Achchuthan Shanmugasundram reviewed gene: TNPO2: Rating: RED; Mode of pathogenicity: Other; Publications: 34314705; Phenotypes: TNPO2-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNNT3 | Achchuthan Shanmugasundram reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977145, 29266598; Phenotypes: TNNT3-associated congenital myopathy (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNFRSF13B | Achchuthan Shanmugasundram reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16007086; Phenotypes: IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMX2 | Achchuthan Shanmugasundram reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31735293; Phenotypes: Primary microcephaly, cortical malformation and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMTC3 | Achchuthan Shanmugasundram reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428; Phenotypes: Cobblestone Lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMPRSS6 | Achchuthan Shanmugasundram reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19357398, 18408718, 19592582, 18596229; Phenotypes: IRON-REFRACTORY IRON DEFICIENCY ANEMIA, OMIM:206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM94 | Achchuthan Shanmugasundram reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526868; Phenotypes: Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM70 | Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: 21147908, 18953340; Phenotypes: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, OMIM:614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM67 | Achchuthan Shanmugasundram reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19508969, 17377820, 16415887; Phenotypes: NEPHRONOPHTHISIS TYPE 11, OMIM:613550, COACH SYNDROME, OMIM:216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM63C | Achchuthan Shanmugasundram reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: 35718349; Phenotypes: TMEM63C-associated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM63A | Achchuthan Shanmugasundram reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587869; Phenotypes: Transient Hypomyelination during Infancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM5 | Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519211, 23217329; Phenotypes: SEVERE COBBLESTONE LISSENCEPHALY, OMIM:615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM260 | Achchuthan Shanmugasundram reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318500; Phenotypes: Neurodevelopmental, Cardiac, and Renal Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM251 | Achchuthan Shanmugasundram reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 33252156; Phenotypes: TMEM251-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM240 | Achchuthan Shanmugasundram reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 30522958, 25070513, 29687291, 32705938, 26813285; Phenotypes: TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM237 | Achchuthan Shanmugasundram reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603801, 14760273, 22152675; Phenotypes: JOUBERT SYNDROME 14, OMIM:614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM222 | Achchuthan Shanmugasundram reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: ; Publications: 33824500; Phenotypes: TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM218 | Achchuthan Shanmugasundram reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 35137054, 33791682; Phenotypes: TMEM218-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM216 | Achchuthan Shanmugasundram reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20512146, 20036350; Phenotypes: JOUBERT SYNDROME 2, OMIM:608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM199 | Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833330; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM165 | Achchuthan Shanmugasundram reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683087; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, OMIM:614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM163 | Achchuthan Shanmugasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35953447, 35455965; Phenotypes: TMEM163-related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM147 | Achchuthan Shanmugasundram reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: 36044892; Phenotypes: TMEM147-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM135 | Achchuthan Shanmugasundram reviewed gene: TMEM135: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM126B | Achchuthan Shanmugasundram reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374774, 27374773; Phenotypes: Muscle Weakness and Isolated Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM114 | Achchuthan Shanmugasundram reviewed gene: TMEM114: Rating: RED; Mode of pathogenicity: ; Publications: 17492639, 24357539; Phenotypes: CONGENITAL AND JUVENILE CATARACT, OMIM:611579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM106B | Achchuthan Shanmugasundram reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29444210, 29186371; Phenotypes: TMEM106B related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMCO1 | Achchuthan Shanmugasundram reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20018682; Phenotypes: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TM4SF20 | Achchuthan Shanmugasundram reviewed gene: TM4SF20: Rating: RED; Mode of pathogenicity: ; Publications: 23810381; Phenotypes: SPECIFIC LANGUAGE IMPAIRMENT 5, OMIM:615432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TLL1 | Achchuthan Shanmugasundram reviewed gene: TLL1: Rating: RED; Mode of pathogenicity: Other; Publications: 18830233; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TLK2 | Achchuthan Shanmugasundram reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843, 29861108; Phenotypes: TLK2 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TKT | Achchuthan Shanmugasundram reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259054; Phenotypes: Short Stature, Developmental Delay, and Congenital Heart Defects, OMIM:617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TKFC | Achchuthan Shanmugasundram reviewed gene: TKFC: Rating: RED; Mode of pathogenicity: ; Publications: 32004446; Phenotypes: TKFC-related Cataracts and Multisystem Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TK2 | Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TINF2 | Achchuthan Shanmugasundram reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230; Phenotypes: EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE, OMIM:268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TIMM8A | Achchuthan Shanmugasundram reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31903733; Phenotypes: JENSEN SYNDROME, OMIM:311150; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THUMPD1 | Achchuthan Shanmugasundram reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: THUMPD1 neurodevelopment disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THRA | Achchuthan Shanmugasundram reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494134, 22168587; Phenotypes: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, OMIM:614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THOC6 | Achchuthan Shanmugasundram reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23621916, 26739162, 27295358; Phenotypes: Beaulieu-Boycott-Innes syndrome, OMIM:613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THOC2 | Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26166480; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THG1L | Achchuthan Shanmugasundram reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: Other; Publications: 30214071, 27307223, 31168944, 33682303; Phenotypes: THG1L-associated cerebellar ataxia, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THAP1 | Achchuthan Shanmugasundram reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30237473; Phenotypes: DYSTONIA 6, TORSION, OMIM:602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TH | Achchuthan Shanmugasundram reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 10585338, 11246459, 8817341, 9703425, 17696123, 8528210, 9732974, 7814018; Phenotypes: DOPA-RESPONSIVE DYSTONIA, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGIF1 | Achchuthan Shanmugasundram reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFBR2 | Achchuthan Shanmugasundram reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM:610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFBR1 | Achchuthan Shanmugasundram reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16791849, 16928994, 18070134, 16596670, 15731757; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFB3 | Achchuthan Shanmugasundram reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24798638; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFB2 | Achchuthan Shanmugasundram reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFB1 | Achchuthan Shanmugasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062463, 15103729, 10973241; Phenotypes: CAMURATI-ENGELMANN DISEASE, OMIM:131300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGDS | Achchuthan Shanmugasundram reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480037; Phenotypes: CATEL-MANZKE SYNDROME, OMIM:616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFRC | Achchuthan Shanmugasundram reviewed gene: TFRC: Rating: RED; Mode of pathogenicity: Other; Publications: 26642240; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFE3 | Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFAP2B | Achchuthan Shanmugasundram reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10802654, 11505339, 7645594; Phenotypes: CHAR SYNDROME, OMIM:169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFAP2A | Achchuthan Shanmugasundram reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31490282; Phenotypes: BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TET3 | Achchuthan Shanmugasundram reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31928709; Phenotypes: TET3 DNA Demethylation Disorder biallelic, TET3 DNA Demethylation Disorder monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TERT | Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17785587; Phenotypes: Dyskeratosis congenita, autosomal recessive 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TERC | Achchuthan Shanmugasundram reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12090986; Phenotypes: Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TELO2 | Achchuthan Shanmugasundram reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132593, 36797513, 28944240; Phenotypes: TELO2 Syndromic Intellectual Disability Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TEK | Achchuthan Shanmugasundram reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7833915, 10369874, 19888299; Phenotypes: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TECPR2 | Achchuthan Shanmugasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176824; Phenotypes: HEREDITARY SPASTIC PARAPARESIS, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TDRD7 | Achchuthan Shanmugasundram reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCTN3 | Achchuthan Shanmugasundram reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: MOHR-MAJEWSKI SYNDROME, OMIM:258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCTN2 | Achchuthan Shanmugasundram reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCTN1 | Achchuthan Shanmugasundram reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCOF1 | Achchuthan Shanmugasundram reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15039977, 14598341, 12114482, 9096354, 15214011, 11013442, 8563749; Phenotypes: TREACHER COLLINS SYNDROME TYPE 1, OMIM:154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCN2 | Achchuthan Shanmugasundram reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7849710; Phenotypes: Transcobalamin II deficiency, OMIM:275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCF7L2 | Achchuthan Shanmugasundram reviewed gene: TCF7L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34003604, 33057194; Phenotypes: TCF7L2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCF4 | Achchuthan Shanmugasundram reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29604340, 17436254, 22670824, 20184619, 18728071, 19938247, 17436255, 22045651, 20205897, 27132474, 30848346, 29695756, 23528641, 19235238; Phenotypes: PITT-HOPKINS SYNDROME, OMIM:610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCF20 | Achchuthan Shanmugasundram reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819258, 25228304, 30739909, 28135719, 27436265; Phenotypes: TCF20 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCF12 | Achchuthan Shanmugasundram reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436, 33004838; Phenotypes: TCF12-related neurodevelopmental disorder with coronal craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TCEAL1 | Achchuthan Shanmugasundram reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36368327; Phenotypes: TCEAL1-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBXAS1 | Achchuthan Shanmugasundram reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX5 | Achchuthan Shanmugasundram reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLT-ORAM SYNDROME, OMIM:142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX4 | Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11303519, 15106123, 31761294; Phenotypes: SMALL PATELLA SYNDROME, OMIM:147891, Posterior Amelia with Pelvic and Pulmonary Hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX3 | Achchuthan Shanmugasundram reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207801, 19938096, 12668170, 12116211; Phenotypes: ULNAR-MAMMARY SYNDROME, OMIM:181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX22 | Achchuthan Shanmugasundram reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CLEFT PALATE, X-LINKED, OMIM:304011; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX20 | Achchuthan Shanmugasundram reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 19762328, 17668378; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 4, OMIM:611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX18 | Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235987; Phenotypes: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, OMIM:143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX15 | Achchuthan Shanmugasundram reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: ; Publications: 24039145, 19068278; Phenotypes: Cousin Syndrome, Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, OMIM:260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX1 | Achchuthan Shanmugasundram reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14585638; Phenotypes: 22Q11.2 DELETION SYNDROME, OMIM:188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBR1 | Achchuthan Shanmugasundram reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30268909, 23160955, 25232744, 32005960; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBL1XR1 | Achchuthan Shanmugasundram reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25425123, 25102098, 29777588, 30365874, 26769062, 28687524, 23160955; Phenotypes: Pierpont syndrome, OMIM:602342, Intellectual disability with autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBCK | Achchuthan Shanmugasundram reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748029, 27040691, 27040692; Phenotypes: Severe Infantile Syndromic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBCE | Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 12389028, 27666369; Phenotypes: Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBCD | Achchuthan Shanmugasundram reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27666374, 27666370; Phenotypes: Early-Onset Neurodegenerative Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D2B | Achchuthan Shanmugasundram reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36029130, 32623794; Phenotypes: TBC1D2B-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D24 | Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 20727515, 20797691, 10741954, 24291220; Phenotypes: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, OMIM:605021, DOORS SYNDROME, OMIM:220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D23 | Achchuthan Shanmugasundram reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: 28823706, 28823707; Phenotypes: Non-degenerative Pontocerebellar Hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D20 | Achchuthan Shanmugasundram reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM:615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAZ | Achchuthan Shanmugasundram reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630491; Phenotypes: BARTH SYNDROME, OMIM:302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAT | Achchuthan Shanmugasundram reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1357662; Phenotypes: TYROSINEMIA TYPE 2, OMIM:276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TASP1 | Achchuthan Shanmugasundram reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35512351, 31209944; Phenotypes: TASP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TARS | Achchuthan Shanmugasundram reviewed gene: TARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31374204; Phenotypes: Non-photosensitive trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAPT1 | Achchuthan Shanmugasundram reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365339; Phenotypes: COMPLEX LETHAL OSTEOCHONDRODYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAOK1 | Achchuthan Shanmugasundram reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230721, 33565190; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TANGO2 | Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 26805781; Phenotypes: Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TANC2 | Achchuthan Shanmugasundram reviewed gene: TANC2: Rating: RED; Mode of pathogenicity: ; Publications: 31616000; Phenotypes: TANC2-related neurodevelopmental and psychiatric disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF8 | Achchuthan Shanmugasundram reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 35759269; Phenotypes: TAF8-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF4 | Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: RED; Mode of pathogenicity: ; Publications: 35904126; Phenotypes: TAF4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF2 | Achchuthan Shanmugasundram reviewed gene: TAF2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF13 | Achchuthan Shanmugasundram reviewed gene: TAF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257693; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF1 | Achchuthan Shanmugasundram reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26637982; Phenotypes: Dysmorphic Features, Intellectual Disability, and Neurological Manifestations; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TACR3 | Achchuthan Shanmugasundram reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TACO1 | Achchuthan Shanmugasundram reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAC3 | Achchuthan Shanmugasundram reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAB2 | Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 20493459; Phenotypes: CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SZT2 | Achchuthan Shanmugasundram reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23932106; Phenotypes: INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYT2 | Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32250532, 32776697; Phenotypes: SYT2-related congenital onset presynaptic myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYT1 | Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30107533, 25705886; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYP | Achchuthan Shanmugasundram reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYP-RELATED, OMIM:300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYNGAP1 | Achchuthan Shanmugasundram reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30685520, 26110312, 23141534, 26079862, 23161826, 30572772, 21237447, 19196676, 23033978, 28721930, 30800045, 28576131, 26989088, 31395010, 30556619, 23708187, 29381230; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 5, OMIM:612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYNE1 | Achchuthan Shanmugasundram reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYNCRIP | Achchuthan Shanmugasundram reviewed gene: SYNCRIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SYNCRIP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYN1 | Achchuthan Shanmugasundram reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OMIM:300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUZ12 | Achchuthan Shanmugasundram reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28229514, 30019515, 31736240; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SURF1 | Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUPT16H | Achchuthan Shanmugasundram reviewed gene: SUPT16H: Rating: RED; Mode of pathogenicity: Other; Publications: 31924697; Phenotypes: SUPT16H-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUOX | Achchuthan Shanmugasundram reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 34117075, 33405344, 34025712, 12112661, 15952210; Phenotypes: Sulfite oxidase deficiency, OMIM:272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUMO1 | Achchuthan Shanmugasundram reviewed gene: SUMO1: Rating: RED; Mode of pathogenicity: ; Publications: 16990542; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUMF1 | Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21224894, 12757705, 12757706; Phenotypes: SULFATIDOSIS, JUVENILE, AUSTIN TYPE, OMIM:272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUCLG1 | Achchuthan Shanmugasundram reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FATAL INFANTILE LACTIC ACIDOSIS, OMIM:308078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STXBP1 | Achchuthan Shanmugasundram reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 29929108, 27069701, 25714420, 30654231, 21770924, 31387522, 24315539, 29544889, 29264391, 26212315, 32105008, 26384463, 19557857, 24170257, 29718889, 24095819, 27184330, 28944233, 29896790, 20876469, 26865513, 24623842, 31344879, 21204804, 20887364, 22596016, 25418441, 23533165, 24189369, 26514728, 23763664, 21762454, 23409955, 21364700, 21062273, 23531706, 25631041; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4, OMIM:612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STX1B | Achchuthan Shanmugasundram reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25362483; Phenotypes: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, OMIM:616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STT3B | Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 23842455; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STT3A | Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23842455, 34653363; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STS | Achchuthan Shanmugasundram reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1539590, 9252398, 3032454; Phenotypes: ICHTHYOSIS, X-LINKED, OMIM:308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STRADA | Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27170158, 33247513, 17522105, 30311510; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STRA6 | Achchuthan Shanmugasundram reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839040, 11857549, 17273977, 21901792, 17503335; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 9, OMIM:601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STN1 | Achchuthan Shanmugasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STIM1 | Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: RED; Mode of pathogenicity: Other; Publications: 23332920; Phenotypes: TUBULAR-AGGREGATE MYOPATHY, OMIM:160565; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STIL | Achchuthan Shanmugasundram reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19215732; Phenotypes: MICROCEPHALY PRIMARY TYPE 7, OMIM:612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAT5B | Achchuthan Shanmugasundram reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 13679528; Phenotypes: GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, OMIM:245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAT2 | Achchuthan Shanmugasundram reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: 26408653, 26122121; Phenotypes: Recessive gain of function causing increased interferon signalling, Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAR | Achchuthan Shanmugasundram reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634702, 8948562, 16968793, 9141542, 7892608, 15546900, 14764819, 10566637, 10323391; Phenotypes: CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA, OMIM:201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAMBP | Achchuthan Shanmugasundram reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23542699; Phenotypes: MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME, OMIM:614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAG2 | Achchuthan Shanmugasundram reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 29263825, 28296084; Phenotypes: STAG2-related developmental delay with microcephaly and congenital anomalies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAG1 | Achchuthan Shanmugasundram reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 28119487; Phenotypes: STAG1 syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAC3 | Achchuthan Shanmugasundram reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777491, 33820833, 30168660, 33060286, 28411587; Phenotypes: STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ST3GAL5 | Achchuthan Shanmugasundram reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30691927, 24026681, 27232954, 15502825, 30185102; Phenotypes: AMISH INFANTILE EPILEPSY SYNDROME, OMIM:609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ST3GAL3 | Achchuthan Shanmugasundram reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21907012, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ST14 | Achchuthan Shanmugasundram reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18445049, 17273967; Phenotypes: ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRY | Achchuthan Shanmugasundram reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: ; Publications: 8105086, 1639410, 2247151, 9150734, 1956279, 1339396, 7987333, 2247149, 7985018, 1483689, 9443877, 10852465, 9521592, 1619028, 1570829, 12107262; Phenotypes: 46XY SEX REVERSAL 1, OMIM:400045; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRSF1 | Achchuthan Shanmugasundram reviewed gene: SRSF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SRSF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRRM2 | Achchuthan Shanmugasundram reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35567594; Phenotypes: SRRM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRPX2 | Achchuthan Shanmugasundram reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: Other; Publications: 16497722; Phenotypes: BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRP54 | Achchuthan Shanmugasundram reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRGAP3 | Achchuthan Shanmugasundram reviewed gene: SRGAP3: Rating: RED; Mode of pathogenicity: ; Publications: 12195014; Phenotypes: SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3, OMIM:606525; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRD5A3 | Achchuthan Shanmugasundram reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 30019980, 18271001; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRCAP | Achchuthan Shanmugasundram reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909990, 23621943, 30425916, 22265015, 30304910, 24375913, 23763483, 22965468, 23165645, 25433523, 26788936; Phenotypes: FLOATING-HARBOR SYNDROME, OMIM:136140, SRCAP-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTLC2 | Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTBN4 | Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28540413, 29861105, 28940097, 31857255, 31230720; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTBN2 | Achchuthan Shanmugasundram reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29795474, 22914369, 25981959; Phenotypes: SCA14, Infantile ataxia with oculomotor and pyramidal signs; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTBN1 | Achchuthan Shanmugasundram reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34211179, 33847457; Phenotypes: SPTBN1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTAN1 | Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36331550, 34590414, 22258530, 20493457, 29050398; Phenotypes: SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia, OMIM:613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRY1 | Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: Other; Publications: 36543535; Phenotypes: SPRY1-associated craniosynostosis with inner ear and renal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRTN | Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRED2 | Achchuthan Shanmugasundram reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626534; Phenotypes: SPRED2-related Noonan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRED1 | Achchuthan Shanmugasundram reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776, 19443465, 21649642, 19366998; Phenotypes: LEGIUS SYNDROME, OMIM:611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPR | Achchuthan Shanmugasundram reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11443547; Phenotypes: DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, OMIM:612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPOP | Achchuthan Shanmugasundram reviewed gene: SPOP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32109420; Phenotypes: SPOP-related Neurodevelopmental Disorder, gain of function, SPOP-related Neurodevelopmental Disorder, dominant negative; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPG11 | Achchuthan Shanmugasundram reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19194956, 17322883, 18067136, 17717710; Phenotypes: SPASTIC PARAPLEGIA-11, OMIM:604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPEN | Achchuthan Shanmugasundram reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411, 33057194; Phenotypes: SPEN-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPEG | Achchuthan Shanmugasundram reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY, OMIM:615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPECC1L | Achchuthan Shanmugasundram reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21703590, 2541274; Phenotypes: FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPATA5L1 | Achchuthan Shanmugasundram reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626583; Phenotypes: SPATA5L1-associated sensorineural hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPATA5 | Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299366; Phenotypes: EPILEPSY, HEARING LOSS, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPAST | Achchuthan Shanmugasundram reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPAST-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPARC | Achchuthan Shanmugasundram reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26027498; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPAG1 | Achchuthan Shanmugasundram reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24055112; Phenotypes: PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX9 | Achchuthan Shanmugasundram reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 11323423, 11754051, 10951468, 12783851, 8894698, 7990924, 7485151, 8001137, 19449405, 11076045; Phenotypes: PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA, OMIM:114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX6 | Achchuthan Shanmugasundram reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 32442410; Phenotypes: SOX6-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX5 | Achchuthan Shanmugasundram reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290657, 36861937; Phenotypes: 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX4 | Achchuthan Shanmugasundram reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35232796, 30661772; Phenotypes: Neurodevelopmental Disease Associated with Mild Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX3 | Achchuthan Shanmugasundram reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8826446; Phenotypes: SEX REVERSAL TYPE 3, OMIM:300833, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY, OMIM:300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX2 | Achchuthan Shanmugasundram reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16145681, 15389708, 21326281, 18831064, 16283891, 12002146, 12612584, 15346919, 17219395, 15812812, 16932809, 16543359, 21919124, 19254784, 16470798; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 3, OMIM:206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX17 | Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20960469; Phenotypes: VESICOURETERAL REFLUX TYPE 3, OMIM:613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX11 | Achchuthan Shanmugasundram reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 35341651, 26543203, 24886874; Phenotypes: SOX11-related neurodevelopmental disorder, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX10 | Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOS2 | Achchuthan Shanmugasundram reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643, 25795793, 32788663; Phenotypes: SOS-2 associated Noonan syndrome, OMIM:616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOS1 | Achchuthan Shanmugasundram reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19438935, 17143285, 18925667; Phenotypes: NOONAN SYNDROME 4, OMIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SON | Achchuthan Shanmugasundram reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545676, 27545680; Phenotypes: Intellectual Disability, Congenital Malformations, and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOBP | Achchuthan Shanmugasundram reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: ; Publications: 21035105; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS, OMIM:613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNX3 | Achchuthan Shanmugasundram reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: ; Publications: 12471201; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 8, OMIM:601349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNX14 | Achchuthan Shanmugasundram reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNRPE | Achchuthan Shanmugasundram reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36814386, 23246290, 9621144; Phenotypes: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNRPB | Achchuthan Shanmugasundram reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRO-COSTO-MANDIBULAR SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNORD118 | Achchuthan Shanmugasundram reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: 27793341, 27571260; Phenotypes: Leukoencephalopathy with cerebral calcification & cysts, OMIM:614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNIP1 | Achchuthan Shanmugasundram reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNAP29 | Achchuthan Shanmugasundram reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: 15968592, 21073448; Phenotypes: CEDNIK SYNDROME, OMIM:609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNAP25 | Achchuthan Shanmugasundram reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 33299146, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMS | Achchuthan Shanmugasundram reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206178, 5823961, 18550699; Phenotypes: SNYDER-ROBINSON SYNDROME, OMIM:309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMPD4 | Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31495489; Phenotypes: Developmental Disorder with Microcephaly and Congenital Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMPD1 | Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19405096, 2023926, 8401540, 12607113, 9266408, 12369017, 1301192, 1718266, 1885770, 8051942, 1391960; Phenotypes: NIEMANN-PICK DISEASE TYPE A, OMIM:257200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMOC2 | Achchuthan Shanmugasundram reviewed gene: SMOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152679; Phenotypes: DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, OMIM:125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMOC1 | Achchuthan Shanmugasundram reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19208380, 21194678; Phenotypes: OPHTHALMOACROMELIC SYNDROME, OMIM:206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMO | Achchuthan Shanmugasundram reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: 32413283; Phenotypes: Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMG9 | Achchuthan Shanmugasundram reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27018474, 35087184; Phenotypes: SMG9 Multiple Congenital Anomaly Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMG8 | Achchuthan Shanmugasundram reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396; Phenotypes: SMG8-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMCHD1 | Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067909, 28067911; Phenotypes: Isolated Arhinia/Bosma Arhinia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMC5 | Achchuthan Shanmugasundram reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SMC5-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMC3 | Achchuthan Shanmugasundram reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17273969, 25125236, 25655089, 20358602; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMC1A | Achchuthan Shanmugasundram reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273969, 28548707, 24124034, 28102598, 31185419, 22106055, 26358754, 20635401, 28677859, 16604071, 31098032, 28166369, 26386245, 26354354, 26752331; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 2, OMIM:300590, SMC1A-related Epileptic Encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCE1 | Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22426308; Phenotypes: COFFIN SIRIS, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCD1 | Achchuthan Shanmugasundram reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30879640; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCC2 | Achchuthan Shanmugasundram reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30580808; Phenotypes: Syndromic Intellectual Disability and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9671307, 22726846, 25249037, 23906836, 22426308, 10739763, 10521299, 23929686, 23815551, 29907796; Phenotypes: EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCAL1 | Achchuthan Shanmugasundram reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799392, 15523612; Phenotypes: SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCA4 | Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137775; Phenotypes: COFFIN SIRIS, OMIM:135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCA2 | Achchuthan Shanmugasundram reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22366787, 22426308, 32694869; Phenotypes: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD6 | Achchuthan Shanmugasundram reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 27606499, 28808027; Phenotypes: Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD4 | Achchuthan Shanmugasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD3 | Achchuthan Shanmugasundram reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890, 21217753; Phenotypes: SMAD3-RELATED LOEYS-DIETZ SYNDROME, OMIM:319643; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD2 | Achchuthan Shanmugasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: ; Publications: 30157302, 23665959; Phenotypes: CONGENITAL HEART DISEASE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLX4 | Achchuthan Shanmugasundram reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240275, 21240277; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP P, OMIM:613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLIRP | Achchuthan Shanmugasundram reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: ; Publications: 34426662; Phenotypes: SLIRP-related mitochondrial encephalomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLF2 | Achchuthan Shanmugasundram reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SLF2-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC9A9 | Achchuthan Shanmugasundram reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 16, OMIM:613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC9A7 | Achchuthan Shanmugasundram reviewed gene: SLC9A7: Rating: RED; Mode of pathogenicity: Other; Publications: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM:301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC9A6 | Achchuthan Shanmugasundram reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 10528855, 18342287; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CHRISTIANSON TYPE, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A9 | Achchuthan Shanmugasundram reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773429; Phenotypes: Glycine Encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A8 | Achchuthan Shanmugasundram reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16086185, 11326334, 16738945, 12210795, 17101918, 11898126, 15154114; Phenotypes: X-LINKED CREATINE DEFICIENCY SYNDROME, OMIM:300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A5 | Achchuthan Shanmugasundram reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPEREKPLEXIA, OMIM:149400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A3 | Achchuthan Shanmugasundram reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSONISM-DYSTONIA, INFANTILE, OMIM:319029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A17 | Achchuthan Shanmugasundram reviewed gene: SLC6A17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25704603; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A1 | Achchuthan Shanmugasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31176687, 34006619, 25865495, 29961511, 29315614, 27600546, 30132828, 31516630; Phenotypes: EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC5A7 | Achchuthan Shanmugasundram reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27569547; Phenotypes: Congenital Myasthenic Syndrome with Episodic Apnea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC5A6 | Achchuthan Shanmugasundram reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 27904971, 31754459, 35013551; Phenotypes: SLC5A6-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC5A5 | Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9486973, 9388506, 9171822, 3998954, 3451231, 9745458; Phenotypes: THYROID HORMONOGENESIS DEFECT I, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC52A3 | Achchuthan Shanmugasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21110228, 16122634, 20920669, 20206331; Phenotypes: BROWN-VIALETTO-VAN LAERE SYNDROME, OMIM:211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC52A2 | Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A4 | Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11274232, 10545938; Phenotypes: PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES, OMIM:604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A11 | Achchuthan Shanmugasundram reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SLC4A11-related corneal endothelial dystrophy with or without deafness, OMIM:217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A1 | Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC46A1 | Achchuthan Shanmugasundram reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11804211, 20795774, 17446347, 21333572, 18559978, 11807405; Phenotypes: HEREDITARY FOLATE MALABSORPTION, OMIM:229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC45A1 | Achchuthan Shanmugasundram reviewed gene: SLC45A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28434495; Phenotypes: Intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC39A8 | Achchuthan Shanmugasundram reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637978, 26637979; Phenotypes: Intellectual Disability with Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC39A13 | Achchuthan Shanmugasundram reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513683, 18985159; Phenotypes: EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA, OMIM:612350, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION, OMIM:601668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC38A3 | Achchuthan Shanmugasundram reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34605855, 36539921; Phenotypes: SLC38A3-associated epileptic encephalopathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC37A4 | Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758626, 21629566, 28224773, 9428641, 24385852, 31617422, 31508908, 33728255, 32005221, 19579760, 25804016, 33964207; Phenotypes: SLC37A4-related congenital disorder of glycosylation with liver dysfunction, Glycogen storage disease Ib, OMIM:232220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC35D1 | Achchuthan Shanmugasundram reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35934917, 19508970, 17952091, 11200994; Phenotypes: SCHNECKENBECKEN DYSPLASIA, OMIM:269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC35C1 | Achchuthan Shanmugasundram reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326279, 11326280; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C, OMIM:266265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC35B2 | Achchuthan Shanmugasundram reviewed gene: SLC35B2: Rating: RED; Mode of pathogenicity: Other; Publications: 35325049; Phenotypes: SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC35A2 | Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24115232; Phenotypes: Epileptic Encephalopathy due to congenital disorder of glycosylation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC35A1 | Achchuthan Shanmugasundram reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15576474; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC33A1 | Achchuthan Shanmugasundram reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC32A1 | Achchuthan Shanmugasundram reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34038384, 36073542; Phenotypes: SLC32A1-associated developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC31A1 | Achchuthan Shanmugasundram reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 35913762, 36562171; Phenotypes: SLC31A1-associated congenital copper transport disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC30A7 | Achchuthan Shanmugasundram reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: Other; Publications: 35751429; Phenotypes: SLC30A7-associated Joubert syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC2A2 | Achchuthan Shanmugasundram reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9354798, 11044475; Phenotypes: FANCONI-BICKEL SYNDROME, OMIM:227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC2A10 | Achchuthan Shanmugasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14569121, 17935213, 16550171; Phenotypes: ARTERIAL TORTUOSITY SYNDROME, OMIM:208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC2A1 | Achchuthan Shanmugasundram reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10980529, 1714544, 19630075, 14605501, 11136715, 19901175, 11603379, 9462754, 18403583, 18606970, 18577546, 18451999, 20221955; Phenotypes: Glucose Transporter Type 1 Deficiency Syndrome, OMIM:606777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC27A4 | Achchuthan Shanmugasundram reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ICHTHYOSIS PREMATURITY SYNDROME, OMIM:608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC26A2 | Achchuthan Shanmugasundram reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18925670, 10482955, 8571951, 7923357, 4644462, 12966518, 10466420, 8528239; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, OMIM:226900, ACHONDROGENESIS TYPE 1B, OMIM:600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A42 | Achchuthan Shanmugasundram reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 29923093, 29327420, 26541337; Phenotypes: SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A4 | Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A38 | Achchuthan Shanmugasundram reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM:205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A26 | Achchuthan Shanmugasundram reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: 26522469; Phenotypes: INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A22 | Achchuthan Shanmugasundram reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A20 | Achchuthan Shanmugasundram reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: 9399886, 10697964, 9686371, 12859414, 10384384; Phenotypes: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OMIM:212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A19 | Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12185364; Phenotypes: AMISH LETHAL MICROCEPHALY, OMIM:607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A15 | Achchuthan Shanmugasundram reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: ; Publications: 11355015, 10369256, 19242930, 16940241, 11552031; Phenotypes: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A1 | Achchuthan Shanmugasundram reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29226520, 27306203, 23561848; Phenotypes: SLC25A1-related Neurometabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC24A4 | Achchuthan Shanmugasundram reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23375655; Phenotypes: AMELOGENESIS IMPERFECTA.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC24A1 | Achchuthan Shanmugasundram reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: 20850105; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC22A5 | Achchuthan Shanmugasundram reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916797, 2235122, 10480371, 15714519, 9634512, 3974805, 10425211, 10051646, 20027113, 9700603, 11058897; Phenotypes: SYSTEMIC PRIMARY CARNITINE DEFICIENCY, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC1A4 | Achchuthan Shanmugasundram reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27193218, 26041762, 31763347, 34174466; Phenotypes: SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC1A2 | Achchuthan Shanmugasundram reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC19A3 | Achchuthan Shanmugasundram reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20065143, 19387023, 15871139; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2, OMIM:607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC17A5 | Achchuthan Shanmugasundram reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10069709, 10947946, 10581036; Phenotypes: SALLA DISEASE, OMIM:604369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC16A2 | Achchuthan Shanmugasundram reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8484404, 15488219, 1605231, 14661163, 15889350; Phenotypes: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY, OMIM:300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC13A5 | Achchuthan Shanmugasundram reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24995870, 26384929; Phenotypes: EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC13A1 | Achchuthan Shanmugasundram reviewed gene: SLC13A1: Rating: RED; Mode of pathogenicity: ; Publications: 36175384; Phenotypes: SLC13A1-associated hypersulfaturia and hyposulfatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC12A6 | Achchuthan Shanmugasundram reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16606917, 21628467, 12368912, 17893295; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, OMIM:218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC12A5 | Achchuthan Shanmugasundram reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28477354, 26333769, 27436767; Phenotypes: SLC12A5-related epilepsy of infancy with migrating focal seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC10A7 | Achchuthan Shanmugasundram reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29878199, 30082715; Phenotypes: Chondrodysplasia with multiple dislocations and amelogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SKIV2L | Achchuthan Shanmugasundram reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOHEPATOENTERIC SYNDROME 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SKI | Achchuthan Shanmugasundram reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX6 | Achchuthan Shanmugasundram reviewed gene: SIX6: Rating: RED; Mode of pathogenicity: Other; Publications: 15266624; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX5 | Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17357085; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX3 | Achchuthan Shanmugasundram reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353631, 10369266, 19346217, 11039582, 17001667; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX1 | Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15141091, 10777717, 12843324, 17637804; Phenotypes: BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIN3B | Achchuthan Shanmugasundram reviewed gene: SIN3B: Rating: RED; Mode of pathogenicity: ; Publications: 33811806; Phenotypes: SIN3B-related syndromic intellectual disability and autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIN3A | Achchuthan Shanmugasundram reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIM1 | Achchuthan Shanmugasundram reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28472148, 23778139, 23778136; Phenotypes: Severe obesity with neurobehavioral features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIL1 | Achchuthan Shanmugasundram reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17026626, 18285827, 20111056, 16282978, 16282977; Phenotypes: MARINESCO-SJOEGREN SYNDROME, OMIM:248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIK1 | Achchuthan Shanmugasundram reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25839329; Phenotypes: NEONATAL EPILEPSY SPECTRUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIAH1 | Achchuthan Shanmugasundram reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32430360; Phenotypes: SIAH1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHROOM3 | Achchuthan Shanmugasundram reviewed gene: SHROOM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25805808; Phenotypes: NEURAL TUBE DEFECT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590292, 11403039, 12116254, 17935511, 9590293, 11889214, 15356038, 21712857, 11030412; Phenotypes: LANGER MESOMELIC DYSPLASIA, OMIM:249700, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHOC2 | Achchuthan Shanmugasundram reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19684605; Phenotypes: NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OMIM:607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHMT2 | Achchuthan Shanmugasundram reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33015733; Phenotypes: SHMT2-related neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHH | Achchuthan Shanmugasundram reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 11471164, 15103725, 12567406; Phenotypes: HOLOPROSENCEPHALY TYPE 3, OMIM:142945, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, OMIM:611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, OMIM:174500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK3 | Achchuthan Shanmugasundram reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17173049, 22892527; Phenotypes: PHELAN-MCDERMID SYNDROME, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK2 | Achchuthan Shanmugasundram reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20473310; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 17, OMIM:613436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK1 | Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SH3PXD2B | Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 7158646, 15523657; Phenotypes: FRANK-TER HAAR SYNDROME, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SH3BP2 | Achchuthan Shanmugasundram reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: Other; Publications: 11381256; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SGSH | Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3A, OMIM:252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SF3B4 | Achchuthan Shanmugasundram reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22541558; Phenotypes: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OMIM:154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD5 | Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31656537, 28549204, 27375234, 28881385, 24680889, 25138099, 28905509; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD2 | Achchuthan Shanmugasundram reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34978780, 27317772, 32710489, 24852293; Phenotypes: Rabin-Pappas syndrome, SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD1B | Achchuthan Shanmugasundram reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32546566, 29322246; Phenotypes: SETD1B associated intellectual disability, epilepsy and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD1A | Achchuthan Shanmugasundram reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETBP1 | Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SET | Achchuthan Shanmugasundram reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: ; Publications: 35122673, 29688601, 29907757, 28135719; Phenotypes: SET syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SERAC1 | Achchuthan Shanmugasundram reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32346411, 27186703, 28505671, 27331002, 28778788, 28916646, 34326751, 23707711, 29205472, 31251474, 33613893; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEPSECS | Achchuthan Shanmugasundram reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805434, 29464431, 26888482; Phenotypes: Pontocerebellar hypoplasia type 2D, OMIM:613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEMA6B | Achchuthan Shanmugasundram reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34110594, 34017830, 33798445, 32169168, 34218423, 35604360, 34092044; Phenotypes: SEMA6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEMA3A | Achchuthan Shanmugasundram reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24124006, 33369061, 28075028; Phenotypes: SEMA3A-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SELENON | Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 26841830, 15792869, 12192640, 28558865, 30642275, 23394784, 20937510, 32154989, 26780752, 29850975, 11528383, 15668457, 16498447, 28688748, 29172004, 31066047, 21670436, 28606403, 15961312, 25808192, 17951086; Phenotypes: SELENON-related myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SELENOI | Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SECISBP2 | Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16228000; Phenotypes: THYROID HORMONE METABOLISM, ABNORMAL, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC61A1 | Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC24D | Achchuthan Shanmugasundram reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23B | Achchuthan Shanmugasundram reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19621418, 19561605; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, OMIM:224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23A | Achchuthan Shanmugasundram reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: Other; Publications: 16980979; Phenotypes: CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHAF1 | Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHA | Achchuthan Shanmugasundram reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDCCAG8 | Achchuthan Shanmugasundram reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20835237, 22626039; Phenotypes: SENIOR-LOKEN SYNDROME 7, OMIM:613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCYL1 | Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCUBE3 | Achchuthan Shanmugasundram reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33308444; Phenotypes: SCUBE3-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCRIB | Achchuthan Shanmugasundram reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: ; Publications: 24140112; Phenotypes: 8Q24.3 DELETION-LIKE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO1 | Achchuthan Shanmugasundram reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCNM1 | Achchuthan Shanmugasundram reviewed gene: SCNM1: Rating: RED; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: SCNM1-associated orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN8A | Achchuthan Shanmugasundram reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22365152, 16236810; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN4A | Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN3A | Achchuthan Shanmugasundram reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18242854, 24157691; Phenotypes: Focal epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN2A | Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25457084, 26291284, 31966371, 24579881, 31439038, 28489313, 31204721, 28379373, 19783390, 30062040, 16417554, 24814476, 28254201, 15028761, 26311622, 17386050, 23550958, 22591750, 19786696, 23988467, 24710820, 24659627, 30144217, 30203812, 25459969, 29635106, 23935176, 28709814, 23827426, 27781028, 25772804, 29625812; Phenotypes: NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1B | Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1A | Achchuthan Shanmugasundram reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16505326, 18680191, 12566275, 11359211, 21555645, 21753172, 17000989; Phenotypes: SCN1A-RELATED SEIZURE DISORDERS, OMIM:607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN11A | Achchuthan Shanmugasundram reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24036948; Phenotypes: CONGENITAL INABILITY TO EXPERIENCE PAIN, EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCARF2 | Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21108395; Phenotypes: VAN DEN ENDE-GUPTA SYNDROME, OMIM:600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCAPER | Achchuthan Shanmugasundram reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCAF4 | Achchuthan Shanmugasundram reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: SCAF4-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SC5D | Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SBDS | Achchuthan Shanmugasundram reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHWACHMAN-DIAMOND SYNDROME, OMIM:260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SATB2 | Achchuthan Shanmugasundram reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30848049, 31392730, 31021519, 30575289, 17377962, 31333717, 28151491, 29739092, 35838081, 29436146, 28211976, 28139846, 26596517, 28787087, 31420882, 24363063, 30648748, 25885067, 24301056, 27774744; Phenotypes: GLASS SYNDROME, OMIM:612313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SATB1 | Achchuthan Shanmugasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: SATB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS2 | Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS | Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMHD1 | Achchuthan Shanmugasundram reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AICARDI-GOUTIERES SYNDROME, OMIM:239588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMD9L | Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: Other; Publications: 27259050; Phenotypes: Ataxia-Pancytopenia Syndrome, OMIM:159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMD9 | Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346228, 27182967; Phenotypes: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SALL4 | Achchuthan Shanmugasundram reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17256792, 12395297, 26791099, 12393809; Phenotypes: DUANE-RADIAL RAY SYNDROME, OMIM:607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SALL1 | Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18000979, 10533063, 9973281, 17431915, 14755477, 11484202, 10928856, 9425907; Phenotypes: TOWNES-BROCKS SYNDROME, OMIM:107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SACS | Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655055; Phenotypes: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR3 | Achchuthan Shanmugasundram reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: 25262651; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR2 | Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR1 | Achchuthan Shanmugasundram reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20839240; Phenotypes: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OMIM:255320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUNX2 | Achchuthan Shanmugasundram reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207800, 12081718, 12424590, 9182765, 10545612, 15952089, 10521292; Phenotypes: CLEIDOCRANIAL DYSPLASIA, OMIM:119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUBCN | Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTTN | Achchuthan Shanmugasundram reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26608784, 29883675, 22939636; Phenotypes: BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTN4IP1 | Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTEL1 | Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453664; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSRC1 | Achchuthan Shanmugasundram reviewed gene: RSRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29522154, 32227164, 28640246; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPRY1 | Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365341; Phenotypes: PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPO4 | Achchuthan Shanmugasundram reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186469, 18070203, 17041604, 17914448, 4702713; Phenotypes: ANONYCHIA CONGENITA, OMIM:206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPO2 | Achchuthan Shanmugasundram reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29769720; Phenotypes: Tetra-amelia with lung agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH3 | Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH1 | Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23107649, 19616983, 28482374, 23968935, 17486094; Phenotypes: Mitochondrial depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRM1 | Achchuthan Shanmugasundram reviewed gene: RRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 35617047; Phenotypes: RRM1-related mitochondrial DNA depletion/deletions syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRAS2 | Achchuthan Shanmugasundram reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130282, 24705357, 31130285; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRAS | Achchuthan Shanmugasundram reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705357; Phenotypes: ATYPICAL NOONAN SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS6KA3 | Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS26 | Achchuthan Shanmugasundram reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 24942156, 24675553, 25946618, 31277601, 20116044; Phenotypes: DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS23 | Achchuthan Shanmugasundram reviewed gene: RPS23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257692; Phenotypes: Microcephaly, hearing loss, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS19 | Achchuthan Shanmugasundram reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RPS19-RELATED DIAMOND-BLACKFAN ANEMIA, OMIM:220176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL26 | Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL13 | Achchuthan Shanmugasundram reviewed gene: RPL13: Rating: RED; Mode of pathogenicity: Other; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL11 | Achchuthan Shanmugasundram reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19191325, 19773262, 19061985; Phenotypes: Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL10 | Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25846674, 29066376, 35876338, 25316788, 26290468; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPGRIP1L | Achchuthan Shanmugasundram reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 17558407, 17558409, 18565097, 19574260; Phenotypes: MECKEL SYNDROME TYPE 5, OMIM:611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPGRIP1 | Achchuthan Shanmugasundram reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920076, 11283794, 11528500; Phenotypes: LEBER CONGENITAL AMAUROSIS 6, OMIM:613826, CONE-ROD DYSTROPHY 13, OMIM:608194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPE65 | Achchuthan Shanmugasundram reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326927; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RORB | Achchuthan Shanmugasundram reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968, 32162308, 33387058; Phenotypes: RORB-epilepsy and neurodevelopmental disorder, OMIM:618357, epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RORA | Achchuthan Shanmugasundram reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656859; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROR2 | Achchuthan Shanmugasundram reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35344616, 15952209, 19533773, 10932187, 10986040, 19640924, 18831060, 10700182, 19461659, 10932186; Phenotypes: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1, OMIM:268310, BRACHYDACTYLY, TYPE B1, OMIM:113000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROGDI | Achchuthan Shanmugasundram reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: ; Publications: 3236364, 7625549, 16411202, 22482807, 8133980, 22424600; Phenotypes: KOHLSCHUTTER-TONZ SYNDROME, OMIM:226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROBO4 | Achchuthan Shanmugasundram reviewed gene: ROBO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30455415; Phenotypes: Bicuspid Aortic Valve and Aortic Aneurysm, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROBO3 | Achchuthan Shanmugasundram reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16525029, 15105459; Phenotypes: FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS, OMIM:607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU4ATAC | Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU12 | Achchuthan Shanmugasundram reviewed gene: RNU12: Rating: RED; Mode of pathogenicity: Other; Publications: 27863452, 34085356; Phenotypes: RNU12-related CDAGS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNPC3 | Achchuthan Shanmugasundram reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35792517, 29866761, 32462814, 24480542, 33650182; Phenotypes: RNPC3-associated growth hormone deficiency and short stature, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF168 | Achchuthan Shanmugasundram reviewed gene: RNF168: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RIDDLE SYNDROME, OMIM:611943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF135 | Achchuthan Shanmugasundram reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: ; Publications: 17632510; Phenotypes: MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, OMIM:614192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF13 | Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF125 | Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF113A | Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASET2 | Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OMIM:612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2C | Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 3, OMIM:610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2B | Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 2, OMIM:610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2A | Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15870678; Phenotypes: AICARDI-GOUTIERES SYNDROME 4, OMIM:610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMRP | Achchuthan Shanmugasundram reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARTILAGE-HAIR HYPOPLASIA, OMIM:250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMND1 | Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23022099; Phenotypes: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMI1 | Achchuthan Shanmugasundram reviewed gene: RMI1: Rating: RED; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RLIM | Achchuthan Shanmugasundram reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIT1 | Achchuthan Shanmugasundram reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, OMIM:615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIPK4 | Achchuthan Shanmugasundram reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15264293, 22197488; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE, OMIM:263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RINT1 | Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIMS2 | Achchuthan Shanmugasundram reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32470375; Phenotypes: RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RHOBTB2 | Achchuthan Shanmugasundram reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276004; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RGS7 | Achchuthan Shanmugasundram reviewed gene: RGS7: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RFX6 | Achchuthan Shanmugasundram reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 15592663, 19887127, 18512226, 20148032; Phenotypes: MARTINEZ-FRIAS SYNDROME, OMIM:601346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RFT1 | Achchuthan Shanmugasundram reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18313027; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N, OMIM:612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RETREG1 | Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19838196; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RET | Achchuthan Shanmugasundram reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11788682; Phenotypes: MULTIPLE ENDOCRINE NEOPLASIA IIB, OMIM:162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | REST | Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36509837; Phenotypes: REST-related gingival fibromatosis and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RERE | Achchuthan Shanmugasundram reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27087320; Phenotypes: Phenocopy of Proximal 1p36 Deletions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RELN | Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LISSENCEPHALY 2, OMIM:257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RECQL4 | Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11754069, 12952869, 15964893, 12734318, 10319867, 20503338, 12838562, 9934984, 10678659, 9878247; Phenotypes: BALLER-GEROLD SYNDROME, OMIM:218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBPJ | Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM8A | Achchuthan Shanmugasundram reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22366785; Phenotypes: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, OMIM:274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM28 | Achchuthan Shanmugasundram reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: Other; Publications: 18439547; Phenotypes: ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM10 | Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBFOX1 | Achchuthan Shanmugasundram reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: ; Publications: 26185613, 26749308; Phenotypes: RBFOX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBBP8 | Achchuthan Shanmugasundram reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333564, 34270086, 21998596; Phenotypes: RBBP8-related microcephaly and intellectual disability, OMIM:251255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAX | Achchuthan Shanmugasundram reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18783408, 14662654; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 3, OMIM:611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RASA1 | Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: 18363760, 14639529; Phenotypes: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, OMIM:608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS2 | Achchuthan Shanmugasundram reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 6, OMIM:611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS | Achchuthan Shanmugasundram reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28905880, 31814314; Phenotypes: RARS1 related hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARB | Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAPSN | Achchuthan Shanmugasundram reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11791205, 18179903; Phenotypes: FETAL AKINESIA DEFORMATION SEQUENCE, OMIM:208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAP1B | Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Other; Publications: 32627184, 26280580; Phenotypes: RAP1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RANBP2 | Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: Other; Publications: 19118815; Phenotypes: ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALGDS | Achchuthan Shanmugasundram reviewed gene: RALGDS: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALGAPA1 | Achchuthan Shanmugasundram reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447; Phenotypes: RALGAPA1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALA | Achchuthan Shanmugasundram reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30500825; Phenotypes: RALA-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAI1 | Achchuthan Shanmugasundram reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMITH-MAGENIS SYNDROME, OMIM:182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAF1 | Achchuthan Shanmugasundram reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17603483; Phenotypes: NOONAN SYNDROME 5, OMIM:611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51C | Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51 | Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: RED; Mode of pathogenicity: ; Publications: 21242494; Phenotypes: MIRROR MOVEMENTS 2, OMIM:614508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD50 | Achchuthan Shanmugasundram reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: ; Publications: 19409520; Phenotypes: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD21 | Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: 27882533, 30716475, 22633399, 32193685, 24378232, 30125677; Phenotypes: COHESINOPATHY, OMIM:614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC3 | Achchuthan Shanmugasundram reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30293988; Phenotypes: Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC1 | Achchuthan Shanmugasundram reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35139179, 28886345; Phenotypes: RAC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RABL6 | Achchuthan Shanmugasundram reviewed gene: RABL6: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP2 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532399, 29419336; Phenotypes: MARTSOLF SYNDROME, OMIM:212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP1 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216543, 29675078, 10465117, 20512159, 15696165; Phenotypes: WARBURG MICRO SYNDROME TYPE 1, OMIM:600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB39B | Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20159109, 25434005, 11050621; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 (MRX72) +/- PARKINSONS, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB23 | Achchuthan Shanmugasundram reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: 17503333, 20358613; Phenotypes: ACROCEPHALOPOLYSYNDACTYLY TYPE 2, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB18 | Achchuthan Shanmugasundram reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 29300443, 26063829, 21473985; Phenotypes: WARBURG MICRO SYNDROME TYPE 3, OMIM:614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB14 | Achchuthan Shanmugasundram reviewed gene: RAB14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: RAB14-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB11B | Achchuthan Shanmugasundram reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29106825; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB11A | Achchuthan Shanmugasundram reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QRICH1 | Achchuthan Shanmugasundram reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28692176; Phenotypes: QRICH1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QKI | Achchuthan Shanmugasundram reviewed gene: QKI: Rating: RED; Mode of pathogenicity: ; Publications: 20082458; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QDPR | Achchuthan Shanmugasundram reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8326489, 2116088, 11153907, 9341885, 9744478; Phenotypes: BH4-DEFICIENT HYPERPHENYLALANINEMIA C, OMIM:261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QARS | Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24656866; Phenotypes: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYGL | Achchuthan Shanmugasundram reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529348, 9536091; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE VI, OMIM:232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYCR2 | Achchuthan Shanmugasundram reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25865492; Phenotypes: POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYCR1 | Achchuthan Shanmugasundram reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19648921, 18304158, 11424136, 19576563, 18348262, 16045708; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, OMIM:612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PXDN | Achchuthan Shanmugasundram reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907015; Phenotypes: CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS7 | Achchuthan Shanmugasundram reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526862; Phenotypes: Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS3 | Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30697592, 32056211, 34415064, 31444731, 30308082, 27055666; Phenotypes: PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS1 | Achchuthan Shanmugasundram reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32287105, 30588737, 17056637, 26556812, 25227147; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PURA | Achchuthan Shanmugasundram reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: ; Publications: 31911028, 29150892, 25342064, 32089526, 29307761, 29097605, 27148565, 25439098; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUF60 | Achchuthan Shanmugasundram reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327570, 27804958; Phenotypes: PUF60 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTS | Achchuthan Shanmugasundram reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10220141, 8178819, 9450907; Phenotypes: 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY, OMIM:261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTRH2 | Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31057140, 27129381, 25574476, 25558065, 28328138; Phenotypes: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPRF | Achchuthan Shanmugasundram reviewed gene: PTPRF: Rating: RED; Mode of pathogenicity: ; Publications: 24781087; Phenotypes: ATHELIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN14 | Achchuthan Shanmugasundram reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20826270; Phenotypes: CHOANAL ATRESIA AND LYMPHEDEMA, OMIM:613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN11 | Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTHLH | Achchuthan Shanmugasundram reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170896; Phenotypes: CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, BRACHYDACTYLY, TYPE E2, OMIM:613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH1R | Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH | Achchuthan Shanmugasundram reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: ; Publications: 3005800, 1302009, 10523031, 2212001; Phenotypes: FAMILIAL ISOLATED HYPOPARATHYROIDISM, OMIM:146200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTF1A | Achchuthan Shanmugasundram reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15543146, 21749365, 10507728, 24212882; Phenotypes: PANCREATIC AGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, OMIM:609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTEN | Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9241266, 9467011, 17286265, 9259288, 11476841, 9425889, 9140396, 9832031, 10051160, 16704655, 12844284, 15805158, 12471211, 10353779, 10777358, 23160955, 11238682, 9832032; Phenotypes: PTEN Hamartoma Tumor Syndrome, PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTDSS1 | Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTCHD1 | Achchuthan Shanmugasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20844286; Phenotypes: AUTISM/ID, OMIM:300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTCH1 | Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8658145, 11941477, 8681379, 17001668, 22572734, 12900905; Phenotypes: BASAL CELL NEVUS SYNDROME, OMIM:109400, HOLOPROSENCEPHALY-7, OMIM:610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSPH | Achchuthan Shanmugasundram reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152457, 14673469, 9222972; Phenotypes: NEU-LAXOVA, OMIM:256520, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OMIM:614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMD12 | Achchuthan Shanmugasundram reviewed gene: PSMD12: Rating: RED; Mode of pathogenicity: ; Publications: 28388435; Phenotypes: Global Developmental Delay, Multiple Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC5 | Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: PSMC5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC1 | Achchuthan Shanmugasundram reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35861243; Phenotypes: PSMC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMB8 | Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21881205, 21953331, 21852578, 21129723; Phenotypes: NAKAJO SYNDROME, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSAT1 | Achchuthan Shanmugasundram reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: NEU-LAXOVA SYNDROME, OMIM:256520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSAP | Achchuthan Shanmugasundram reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15773042; Phenotypes: ATYPICAL KRABBE DISEASE, OMIM:611722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRUNE1 | Achchuthan Shanmugasundram reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211990, 28334956; Phenotypes: PEHO Like condition; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRSS56 | Achchuthan Shanmugasundram reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397065, 19526372; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 6, OMIM:613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRSS12 | Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 12459588; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRRX1 | Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRRT2 | Achchuthan Shanmugasundram reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22543779, 21937992, 22243967, 22744660; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME, OMIM:602066; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRR12 | Achchuthan Shanmugasundram reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 26163108; Phenotypes: Intellectual disability and iris abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRPS1 | Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRPF8 | Achchuthan Shanmugasundram reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35543142, 29847639; Phenotypes: PRPF8-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PROSER1 | Achchuthan Shanmugasundram reviewed gene: PROSER1: Rating: RED; Mode of pathogenicity: ; Publications: 35229282; Phenotypes: PROSER1-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PROP1 | Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRMT9 | Achchuthan Shanmugasundram reviewed gene: PRMT9: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRMT7 | Achchuthan Shanmugasundram reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: Pseudohypoparathyroidism-like disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKG2 | Achchuthan Shanmugasundram reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34782440, 36504352, 33106379; Phenotypes: PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKD1 | Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1B | Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 33833410; Phenotypes: PRKAR1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1A | Achchuthan Shanmugasundram reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464252, 22464250, 21651393; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACB | Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACB-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACA | Achchuthan Shanmugasundram reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACA-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRIM1 | Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33060134; Phenotypes: PRIM1-related Primordial Dwarfism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PREPL | Achchuthan Shanmugasundram reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24610330; Phenotypes: HYPOTONIA-CYSTINURIA SYNDROME, OMIM:606407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDX3 | Achchuthan Shanmugasundram reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35766882; Phenotypes: PRDX3-associated cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM6 | Achchuthan Shanmugasundram reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: Other; Publications: 27181681; Phenotypes: Isolated Nonsyndromic Patent Ductus Arteriosus.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM15 | Achchuthan Shanmugasundram reviewed gene: PRDM15: Rating: RED; Mode of pathogenicity: Other; Publications: 33593823; Phenotypes: PRDM15-related renal and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM13 | Achchuthan Shanmugasundram reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 35390279; Phenotypes: PRDM13-related olivopentocerebellar hypoplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM12 | Achchuthan Shanmugasundram reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: 26005867; Phenotypes: HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII, OMIM:616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PQBP1 | Achchuthan Shanmugasundram reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 13981686, 14634649, 3177467, 7943045, 16493439, 16740914; Phenotypes: RENPENNING SYNDROME 1, OMIM:309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPT1 | Achchuthan Shanmugasundram reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, OMIM:256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP3CA | Achchuthan Shanmugasundram reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942967; Phenotypes: Severe Neurodevelopmental Disease with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2R5D | Achchuthan Shanmugasundram reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25972378, 36216457, 25533962, 26576547; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2R1A | Achchuthan Shanmugasundram reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2CA | Achchuthan Shanmugasundram reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R21 | Achchuthan Shanmugasundram reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 30520571, 28940097, 29808498, 32985083; Phenotypes: PPP1R21-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R15B | Achchuthan Shanmugasundram reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: ; Publications: 26307080; Phenotypes: Severe microcephaly, short stature and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R13L | Achchuthan Shanmugasundram reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32666529, 28069640; Phenotypes: PPP1R13L-related dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R12A | Achchuthan Shanmugasundram reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1CB | Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPM1D | Achchuthan Shanmugasundram reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 28343630; Phenotypes: PPM1D syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPIL1 | Achchuthan Shanmugasundram reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPFIBP1 | Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30214071, 35830857; Phenotypes: PPFIBP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPA2 | Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27523598, 27523597, 34400813; Phenotypes: Sudden arrhythmic cardiac death after infectious or alcohol trigger; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU4F1 | Achchuthan Shanmugasundram reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33783914; Phenotypes: POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU3F3 | Achchuthan Shanmugasundram reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31303265; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU1F1 | Achchuthan Shanmugasundram reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1509262, 12629113, 15928241, 2634610, 9626142, 1302000, 16968807, 8768831, 11297581, 1472057, 7670563; Phenotypes: POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POT1 | Achchuthan Shanmugasundram reviewed gene: POT1: Rating: RED; Mode of pathogenicity: Other; Publications: 27013236; Phenotypes: Coats Plus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PORCN | Achchuthan Shanmugasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18325042, 17546031, 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, OMIM:305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT2 | Achchuthan Shanmugasundram reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 19138766, 17878207, 16701995, 17634419, 17923109, 15894594; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2, OMIM:613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT1 | Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053679, 19299310, 11320179, 17878207, 15037715, 14678799, 12369018, 31311558, 22549409, 16717220; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, OMIM:236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMK | Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32907597, 31833209, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT2 | Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT1 | Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3GL | Achchuthan Shanmugasundram reviewed gene: POLR3GL: Rating: RED; Mode of pathogenicity: ; Publications: 31089205; Phenotypes: Endosteal Hyperostosis and Oligodontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3B | Achchuthan Shanmugasundram reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 33417887; Phenotypes: POLR3B-related neurodevelopmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OMIM:614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3A | Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21855841, 12605447, 22036171, 17159124, 30414627; Phenotypes: Autosomal Recessive Wiedemann Rautenstrauch Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR2A | Achchuthan Shanmugasundram reviewed gene: POLR2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33665635, 35461703, 31353023; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1D | Achchuthan Shanmugasundram reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976; Phenotypes: TREACHER COLLINS SYNDROME TYPE 2, OMIM:613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1C | Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976, 32042905, 26151409; Phenotypes: POLR1C-related Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1A | Achchuthan Shanmugasundram reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OMIM:616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLG | Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLE | Achchuthan Shanmugasundram reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 30503519, 25948378, 35860951, 23230001; Phenotypes: IMAGe Syndrome with variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLD1 | Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23770608; Phenotypes: SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLA1 | Achchuthan Shanmugasundram reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31006512; Phenotypes: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POGZ | Achchuthan Shanmugasundram reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26942287, 25533962, 30879264, 27103995, 25694107, 26739615, 31782611, 31136090, 26763879, 32103003, 27148570, 28480548, 31347273; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POC1B | Achchuthan Shanmugasundram reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25018096; Phenotypes: AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POC1A | Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPT1 | Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPO | Achchuthan Shanmugasundram reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24266778, 26108646, 24645144, 25762494, 33981986, 24658933, 28818555, 27014579, 26303608, 26535729; Phenotypes: PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA6 | Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574898, 24355708, 25480986; Phenotypes: PNPLA6-related Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA2 | Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22832386, 17187067; Phenotypes: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA1 | Achchuthan Shanmugasundram reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL ICHTHYOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNKP | Achchuthan Shanmugasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728773, 20118933; Phenotypes: ATAXIA-OCULOMOTOR APRAXIA 4, OMIM:616267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMS2 | Achchuthan Shanmugasundram reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7661930, 26318770; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMPCB | Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMM2 | Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9887379, 10602363, 17307006, 10527672, 9781039, 9497260, 19235233, 9140401, 10801058, 11916319, 10922383; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLXND1 | Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLXNA1 | Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: RED; Mode of pathogenicity: ; Publications: 34054129; Phenotypes: PLXNA1-associated neurodevelopmental disorder (biallelic), PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLPBP | Achchuthan Shanmugasundram reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044; Phenotypes: Vitamin-B6-Dependent Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLP1 | Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD3 | Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: RED; Mode of pathogenicity: ; Publications: 18834968; Phenotypes: LYSYL HYDROXYLASE 3 DEFICIENCY, OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD2 | Achchuthan Shanmugasundram reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35278031, 15523624; Phenotypes: BRUCK SYNDROME TYPE 2, OMIM:609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD1 | Achchuthan Shanmugasundram reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8163671, 5016372, 1345174, 9450904; Phenotypes: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM, OMIM:225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLK4 | Achchuthan Shanmugasundram reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25344692; Phenotypes: MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY, OMIM:616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLEC | Achchuthan Shanmugasundram reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35579050; Phenotypes: Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy, OMIM:613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCH1 | Achchuthan Shanmugasundram reviewed gene: PLCH1: Rating: RED; Mode of pathogenicity: Other; Publications: 33820834; Phenotypes: HPE-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCG2 | Achchuthan Shanmugasundram reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: ; Publications: 23000145; Phenotypes: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, OMIM:614468, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED, OMIM:614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCE1 | Achchuthan Shanmugasundram reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20591883, 17086182; Phenotypes: NEPHROTIC SYNDROME, TYPE 3, OMIM:610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB4 | Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB1 | Achchuthan Shanmugasundram reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OMIM:613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLAA | Achchuthan Shanmugasundram reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28413018; Phenotypes: Lethal Infantile Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLA2G6 | Achchuthan Shanmugasundram reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PKHD1 | Achchuthan Shanmugasundram reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19021639, 12506140, 11919560; Phenotypes: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, OMIM:263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PKD1L1 | Achchuthan Shanmugasundram reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616478, 35691949; Phenotypes: Laterality defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX3 | Achchuthan Shanmugasundram reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15286169; Phenotypes: ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX2 | Achchuthan Shanmugasundram reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11301317, 15591271, 11487566, 7581385, 8944018, 22224469, 8942889; Phenotypes: RING DERMOID OF CORNEA, OMIM:180550, AXENFELD-RIEGER SYNDROME TYPE 1, OMIM:180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX1 | Achchuthan Shanmugasundram reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18950742, 22258522; Phenotypes: HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS, CONGENITAL CLUBFOOT, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIP5K1C | Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3R2 | Achchuthan Shanmugasundram reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26860062, 22729224; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3R1 | Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23810379, 28472977, 23810378, 22351933; Phenotypes: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, SHORT SYNDROME, OMIM:269880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3CA | Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIH1D3 | Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGY | Achchuthan Shanmugasundram reviewed gene: PIGY: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26293662; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGW | Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: RED; Mode of pathogenicity: Other; Publications: 24367057; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGV | Achchuthan Shanmugasundram reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17351347, 20802478; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGU | Achchuthan Shanmugasundram reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31353022; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGT | Achchuthan Shanmugasundram reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23636107, 24906948; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGS | Achchuthan Shanmugasundram reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269814; Phenotypes: Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGQ | Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGO | Achchuthan Shanmugasundram reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683086; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2, OMIM:614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGN | Achchuthan Shanmugasundram reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21493957, 36322149; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGM | Achchuthan Shanmugasundram reviewed gene: PIGM: Rating: RED; Mode of pathogenicity: Other; Publications: 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGL | Achchuthan Shanmugasundram reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: ZUNICH NEUROECTODERMAL SYNDROME, OMIM:280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGK | Achchuthan Shanmugasundram reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32220290; Phenotypes: PIGK-associated Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGH | Achchuthan Shanmugasundram reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052; Phenotypes: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGG | Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 26996948; Phenotypes: Intellectual Disability with Seizures and Hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGB | Achchuthan Shanmugasundram reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 31256876; Phenotypes: Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGA | Achchuthan Shanmugasundram reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305531; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OMIM:300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO2 | Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO1 | Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387913; Phenotypes: Congenital lymphatic dysplasia with hydrops and/or lymphoedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIDD1 | Achchuthan Shanmugasundram reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379; Phenotypes: PIDD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIBF1 | Achchuthan Shanmugasundram reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29695797, 26167768; Phenotypes: JOUBERT SYNDROME 33, OMIM:617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PI4KA | Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16691592, 16888290, 12640453, 12438263, 15024693; Phenotypes: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, OMIM:209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHIP | Achchuthan Shanmugasundram reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 29209020; Phenotypes: Developmental delay, ID, obesity and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHGDH | Achchuthan Shanmugasundram reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11055895, 11034457, 24836451, 19235232; Phenotypes: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OMIM:601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF8 | Achchuthan Shanmugasundram reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398231, 17594395, 16199551, 17661819; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED SIDERIUS TYPE, OMIM:300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF6 | Achchuthan Shanmugasundram reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 35662002, 15466013, 12415272, 15994862; Phenotypes: BOERJESON-FORSSMAN-LEHMANN SYNDROME, OMIM:301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF21A | Achchuthan Shanmugasundram reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36843358, 36876344; Phenotypes: POTOCKI-SHAFFER SYNDROME, OMIM:601224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHC1 | Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHACTR1 | Achchuthan Shanmugasundram reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30256902; Phenotypes: PHACTR1-associated neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM3 | Achchuthan Shanmugasundram reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: IMMUNODEFICIENCY 23, OMIM:615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM2L1 | Achchuthan Shanmugasundram reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33979636; Phenotypes: PGM2L1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM1 | Achchuthan Shanmugasundram reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19625727; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, OMIM:614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGK1 | Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP3 | Achchuthan Shanmugasundram reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24439110; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP2 | Achchuthan Shanmugasundram reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP1 | Achchuthan Shanmugasundram reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25804403, 26050939, 24784135; Phenotypes: Intellectual disability, encephalopathy, impaired GPI-anchor maturation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX7 | Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9090381, 9090382, 10083738, 12325024, 9090383; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, OMIM:601757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX6 | Achchuthan Shanmugasundram reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, OMIM:601498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX5 | Achchuthan Shanmugasundram reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX3 | Achchuthan Shanmugasundram reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12, OMIM:603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX26 | Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: 12851857; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX2 | Achchuthan Shanmugasundram reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14630978, 10528859; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, OMIM:170993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX19 | Achchuthan Shanmugasundram reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX16 | Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX14 | Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX13 | Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX12 | Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX11B | Achchuthan Shanmugasundram reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B, OMIM:614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX10 | Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX1 | Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PET100 | Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEPD | Achchuthan Shanmugasundram reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 8900231, 1972707, 19308961, 17142620, 16470701, 2365824, 6637477, 15309682; Phenotypes: PROLIDASE DEFICIENCY, OMIM:170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PECR | Achchuthan Shanmugasundram reviewed gene: PECR: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS2 | Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186472; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 3, OMIM:614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS1 | Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDIA6 | Achchuthan Shanmugasundram reviewed gene: PDIA6: Rating: RED; Mode of pathogenicity: ; Publications: 33495992, 35856135; Phenotypes: PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDHX | Achchuthan Shanmugasundram reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 17152059, 16566017, 11935326, 9399911, 8584393, 12557299, 8229524, 9467010; Phenotypes: LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDHA1 | Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM: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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDGFRB | Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30941910, 32291752, 29226947, 26279204, 28639748, 23731542, 25454926; Phenotypes: FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550, KOSAKI OVERGROWTH SYNDROME, OMIM:616592, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6G | Achchuthan Shanmugasundram reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: 20655036; Phenotypes: RETINITIS PIGMENTOSA 57, OMIM:613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE4D | Achchuthan Shanmugasundram reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464250, 22464252, 23033274; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE10A | Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDCD10 | Achchuthan Shanmugasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380626, 15543491; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3, OMIM:603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCYT2 | Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCYT1A | Achchuthan Shanmugasundram reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28272537, 24387990, 24387991; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OMIM:608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCNT | Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18174396, 15372530, 19839044; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OMIM:210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCGF2 | Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDHGC4 | Achchuthan Shanmugasundram reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH19 | Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH12 | Achchuthan Shanmugasundram reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804758, 27164683, 30178464, 29556033, 30459466; Phenotypes: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCCB | Achchuthan Shanmugasundram reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCCA | Achchuthan Shanmugasundram reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12189489, 8225321, 10101253, 8411997, 9683601, 9385377, 10820128, 9887338, 17966092, 8295402; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCBP2 | Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PCBP2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCBD1 | Achchuthan Shanmugasundram reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585615, 8352282; Phenotypes: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, OMIM:264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PC | Achchuthan Shanmugasundram reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585002, 9585612, 19306334, 12112657; Phenotypes: PYRUVATE CARBOXYLASE DEFICIENCY, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PBX1 | Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451537; Phenotypes: PBX1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX9 | Achchuthan Shanmugasundram reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TOOTH AGENESIS, SELECTIVE, 3, OMIM:604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX8 | Achchuthan Shanmugasundram reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11232006, 15356023, 11502839, 15718293, 9590296; Phenotypes: CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2, OMIM:218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX6 | Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17595013, 7668281, 12721955, 9931324, 15629294, 17148041; Phenotypes: ANIRIDIA, OMIM:106210, PETERS ANOMALY, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX3 | Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX2 | Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3377002, 9106533, 9760197, 2644560, 7795640, 11461952, 11093271; Phenotypes: RENAL-COLOBOMA SYNDROME, OMIM:120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX1 | Achchuthan Shanmugasundram reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 28657137, 29681087; Phenotypes: OTOFACIOCERVICAL SYNDROME, OMIM:166780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARP1 | Achchuthan Shanmugasundram reviewed gene: PARP1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARN | Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25893599; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAPSS2 | Achchuthan Shanmugasundram reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9714015, 22791835, 19474428; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE, OMIM:612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAN2 | Achchuthan Shanmugasundram reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35304602; Phenotypes: PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PALB2 | Achchuthan Shanmugasundram reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, OMIM:610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAK3 | Achchuthan Shanmugasundram reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12884430, 18523455, 8826460, 17853471, 24556213, 9332663; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30, OMIM:300558, AGENESIS OF THE CORPUS CALLOSUM; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAK1 | Achchuthan Shanmugasundram reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290153; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAH | Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 1671810, 2816939, 8098245, 1975559, 1301200, 1301947, 8829656, 1301201, 2840952, 2014802, 1709636, 2044609, 2564729, 8097261, 11935335, 2035532, 2573272, 2071149, 2309142, 9950317, 1769645, 1671881, 1360590, 1997387, 1363838, 3008810, 1301193, 1363837, 1312992, 7981714, 1358789, 8364546, 1349576, 2606484, 2574002, 1682235, 2884570, 1679030, 8088845; Phenotypes: NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA, OMIM:261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAFAH1B1 | Achchuthan Shanmugasundram reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15007136, 10441340, 11502906, 14581661; Phenotypes: LISSENCEPHALY TYPE 1, OMIM:607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PACS2 | Achchuthan Shanmugasundram reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28867141, 30290155; Phenotypes: Unspecified Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PACS1 | Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23159249; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HTM | Achchuthan Shanmugasundram reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35908151, 34285383, 30940925, 32965080; Phenotypes: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HB | Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P3H1 | Achchuthan Shanmugasundram reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19088120, 17277775; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE VIII, OMIM:610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OXR1 | Achchuthan Shanmugasundram reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785787; Phenotypes: Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OXCT1 | Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10964512, 23281106, 1405472, 9671268; Phenotypes: SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTX2 | Achchuthan Shanmugasundram reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15846561, 26974134, 28388256, 27299576, 20396904, 18628516, 19956411, 19965921, 18854396; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 5, OMIM:610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTULIN | Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523608, 27686184, 27559085; Phenotypes: Otulin-related auto inflammatory syndrome, OMIM:617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD7A | Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: ; Publications: 29395074; Phenotypes: 15q13.3 deletions phenocopy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD6B | Achchuthan Shanmugasundram reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28343629; Phenotypes: Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD5 | Achchuthan Shanmugasundram reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33748114, 33131077, 33523931; Phenotypes: OTUD5-associated neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTOGL | Achchuthan Shanmugasundram reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122586; Phenotypes: MODERATE SENSORINEURAL HEARING LOSS, OMIM:614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTC | Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OSGEP | Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC6 | Achchuthan Shanmugasundram reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7710253; Phenotypes: MEIER-GORLIN SYNDROME 3, OMIM:613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC4 | Achchuthan Shanmugasundram reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 2, OMIM:613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC1 | Achchuthan Shanmugasundram reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358633; Phenotypes: MEIER-GORLIN SYNDROME 1, OMIM:224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OPHN1 | Achchuthan Shanmugasundram reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528889, 12805098, 12807966, 9582072, 16158428; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ONECUT1 | Achchuthan Shanmugasundram reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34663987; Phenotypes: ONECUT1-associated neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGT | Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDHL | Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDH | Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36520152, 32383294; Phenotypes: OGDH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OFD1 | Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11950863, 15221448, 19800048, 9482645, 22353940, 16783569, 11179005, 9198060; Phenotypes: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, OMIM:311200, JOUBERT SYNDROME TYPE 10, OMIM:300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ODC1 | Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ODC1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OCRL | Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15627218, 9632163, 9199559; Phenotypes: DENT DISEASE TYPE 2, OMIM:300555, LOWE OCULOCEREBRORENAL SYNDROME, OMIM:309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OCLN | Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 32240828, 26689621, 20727516, 28179633; Phenotypes: OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OBSL1 | Achchuthan Shanmugasundram reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481195; Phenotypes: 3-M SYNDROME 2, OMIM:612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NYX | Achchuthan Shanmugasundram reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062471, 11062472, 16670814; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A, OMIM:310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUS1 | Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP62 | Achchuthan Shanmugasundram reviewed gene: NUP62: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16786527; Phenotypes: INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP54 | Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP214 | Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP133 | Achchuthan Shanmugasundram reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 30427554; Phenotypes: GALLOWAY-MOWAT SYNDROME 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP107 | Achchuthan Shanmugasundram reviewed gene: NUP107: Rating: RED; Mode of pathogenicity: ; Publications: 28280135, 26411495; Phenotypes: GALLOWAY-MOWAT SYNDROME 7, OMIM:618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUDT2 | Achchuthan Shanmugasundram reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30059600, 27431290, 33058507; Phenotypes: NUDT2-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUBPL | Achchuthan Shanmugasundram reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTRK2 | Achchuthan Shanmugasundram reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTRK1 | Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233776, 19250380, 10330344, 8145823, 10982191, 8696348, 10090906, 10861667; Phenotypes: CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTNG2 | Achchuthan Shanmugasundram reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31372774, 31668703; Phenotypes: Developmental delay, hypotonia, and autistic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NT5C3A | Achchuthan Shanmugasundram reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY, OMIM:266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSUN2 | Achchuthan Shanmugasundram reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22541559, 22577224, 21063731, 22541562; Phenotypes: AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSRP1 | Achchuthan Shanmugasundram reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: NSRP1-associated developmental delay, epilepsy and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSMCE3 | Achchuthan Shanmugasundram reviewed gene: NSMCE3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DISTINCT DNA BREAKAGE SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSDHL | Achchuthan Shanmugasundram reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476, 11907515, 19842190, 10710235; Phenotypes: CK SYNDROME, OMIM:300831, CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS, OMIM:308050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSD2 | Achchuthan Shanmugasundram reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NSD2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSD1 | Achchuthan Shanmugasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222665, 12525543, 11896389; Phenotypes: SOTOS SYNDROME, OMIM:117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN3 | Achchuthan Shanmugasundram reviewed gene: NRXN3: Rating: RED; Mode of pathogenicity: ; Publications: 22209245; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN2 | Achchuthan Shanmugasundram reviewed gene: NRXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN1 | Achchuthan Shanmugasundram reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22405623, 30031152, 30873608, 28289584, 27195815, 23495017; Phenotypes: PITT HOPKINS 2, AUTISM, OMIM:209850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRROS | Achchuthan Shanmugasundram reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197075; Phenotypes: NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRCAM | Achchuthan Shanmugasundram reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRAS | Achchuthan Shanmugasundram reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19966803; Phenotypes: NOONAN SYNDROME TYPE 6, OMIM:613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR4A2 | Achchuthan Shanmugasundram reviewed gene: NR4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NR4A2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR2F2 | Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24702954; Phenotypes: CONGENITAL HEART DEFECTS and XX sex reversal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR2F1 | Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462372, 26986877; Phenotypes: BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME, OMIM:615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR1I3 | Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPR3 | Achchuthan Shanmugasundram reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032985; Phenotypes: Enhanced Growth and Connective Tissue Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPR2 | Achchuthan Shanmugasundram reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15146390; Phenotypes: ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE, OMIM:602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPM1 | Achchuthan Shanmugasundram reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31570891; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHS2 | Achchuthan Shanmugasundram reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589695, 8606597, 12464671, 10742096; Phenotypes: NEPHROTIC SYNDROME, TYPE 2, OMIM:600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHS1 | Achchuthan Shanmugasundram reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9660941, 10652016, 10577936, 17290294, 11854170; Phenotypes: NEPHROTIC SYNDROME TYPE 1, OMIM:256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP4 | Achchuthan Shanmugasundram reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12244321; Phenotypes: NEPHRONOPHTHISIS TYPE 4, OMIM:606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP3 | Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP1 | Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPC2 | Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447927, 17470133, 11125141, 11567215; Phenotypes: NIEMANN-PICK DISEASE, TYPE C2, OMIM:607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11333381, 9211849, 12554680, 10521297, 10480349, 11479732, 11349231, 9245994; Phenotypes: NIEMANN-PICK DISEASE, TYPE C1, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOVA2 | Achchuthan Shanmugasundram reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Intellectual disability with ataxia/spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH3 | Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: Other; Publications: 23731542; Phenotypes: INFANTILE MYOFIBROMATOSIS, OMIM:615293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH2 | Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH1 | Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOP10 | Achchuthan Shanmugasundram reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: Other; Publications: 17507419; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NONO | Achchuthan Shanmugasundram reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 36426740, 26571461, 27329731; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOG | Achchuthan Shanmugasundram reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: ; Publications: 12089654, 15770128, 17668388, 11846737, 10069712, 11545688, 20503332; Phenotypes: NOG-related-symphalangism spectrum disorder , OMIM:186500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NODAL | Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NMNAT1 | Achchuthan Shanmugasundram reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22842229, 24830548, 26464178, 22842227, 26316326, 24940029, 12734549, 22842230; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NLGN4X | Achchuthan Shanmugasundram reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NLGN3 | Achchuthan Shanmugasundram reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12669065; Phenotypes: AUTISM SPECTRUM DISORDERS, OMIM:198890; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX6-2 | Achchuthan Shanmugasundram reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575651; Phenotypes: Progressive Spastic Ataxia and Hypomyelination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX3-2 | Achchuthan Shanmugasundram reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OMIM:613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX2-5 | Achchuthan Shanmugasundram reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19948535, 16418214, 11714651, 20807224; Phenotypes: ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, OMIM:108900, TETRALOGY OF FALLOT, OMIM:187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5, OMIM:225250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX2-1 | Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15289765; Phenotypes: CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, OMIM:610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKAP | Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NIPBL | Achchuthan Shanmugasundram reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15318302, 15146185, 11391654, 15146186, 16799922, 35446447; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 1, OMIM:122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHS | Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHP2 | Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHLRC2 | Achchuthan Shanmugasundram reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34165204, 32435055, 29423877; Phenotypes: NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NGLY1 | Achchuthan Shanmugasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24651605; Phenotypes: CONGENITAL DISORDER OF DEGLYCOSYLATION, OMIM:615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFU1 | Achchuthan Shanmugasundram reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11156534, 22077971; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIX | Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: 22301465, 20673863, 29897170; Phenotypes: MARSHALL-SMITH SYNDROME, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIB | Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIA | Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17530927; Phenotypes: Macrocephaly with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFE2L2 | Achchuthan Shanmugasundram reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29018201; Phenotypes: NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NF1 | Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11258625, 1745350, 9529361, 12483293, 10712197, 1937470, 12438263, 9003501, 1302608, 1783401, 12707950, 15523642, 15520408, 7655472, 9668168, 11704931, 10677298, 30308447, 7633431, 13680360, 8317503, 8664912, 1719426, 1568247, 19449407, 19845691, 15948193; Phenotypes: NEUROFIBROMATOSIS TYPE 1, OMIM:162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEXMIF | Achchuthan Shanmugasundram reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 33144681, 23615299, 26576034, 15466006, 27568816, 27358180; Phenotypes: NEXMIF-related Intellectual disability and epilepsy (XLR), OMIM:300912, NEXMIF-related Intellectual disability and epilepsy (XLD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEU1 | Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11829139, 11702224, 10944856, 14695530, 10767332, 8985184, 11470272, 9054950; Phenotypes: SIALIDOSIS, OMIM:256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEK8 | Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199800, 23418306; Phenotypes: NEPHRONOPHTHISIS 9, OMIM:613824, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OMIM:615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEK1 | Achchuthan Shanmugasundram reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, OMIM:263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEDD4L | Achchuthan Shanmugasundram reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27694961, 23934111, 28515470; Phenotypes: Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NECTIN4 | Achchuthan Shanmugasundram reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20691405, 21346770, 1646587; Phenotypes: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, OMIM:613573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NECTIN1 | Achchuthan Shanmugasundram reviewed gene: NECTIN1: Rating: RED; Mode of pathogenicity: ; Publications: 10932188; Phenotypes: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEB | Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27105866, 10051637, 27933661; Phenotypes: AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY, OMIM:256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV2 | Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV1 | Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS8 | Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS7 | Achchuthan Shanmugasundram reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS4 | Achchuthan Shanmugasundram reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS1 | Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB8 | Achchuthan Shanmugasundram reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429571; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB7 | Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: RED; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB3 | Achchuthan Shanmugasundram reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22499348, 22277967; Phenotypes: NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB11 | Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFAF8 | Achchuthan Shanmugasundram reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: NDUFAF8-related Leigh Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFAF2 | Achchuthan Shanmugasundram reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA9 | Achchuthan Shanmugasundram reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA8 | Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32385911; Phenotypes: NDUFA8-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA12 | Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257; Phenotypes: NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA10 | Achchuthan Shanmugasundram reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME DUP, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA1 | Achchuthan Shanmugasundram reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDST1 | Achchuthan Shanmugasundram reviewed gene: NDST1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDP | Achchuthan Shanmugasundram reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7627181, 1307245, 8790105, 7814011, 24801666, 9382152, 17334993, 8069314, 8268931, 16163268, 17296899, 9143918, 1303264, 8240113, 8990009; Phenotypes: NORRIE DISEASE, OMIM:310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDNF | Achchuthan Shanmugasundram reviewed gene: NDNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883645; Phenotypes: NDNF-related Congenital Hypogonadotrophic Hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDE1 | Achchuthan Shanmugasundram reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21529752, 21529751; Phenotypes: LISSENCEPHALY 4, OMIM:614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCOR1 | Achchuthan Shanmugasundram reviewed gene: NCOR1: Rating: RED; Mode of pathogenicity: ; Publications: 30289594, 27824329; Phenotypes: NCOR1-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCKAP1 | Achchuthan Shanmugasundram reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 33157009; Phenotypes: NCKAP1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCDN | Achchuthan Shanmugasundram reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33711248; Phenotypes: NCDN-associated neurodevelopmental disorder with seizures (monoallelic), NCDN-associated neurodevelopmental disorder with seizures (biallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPH | Achchuthan Shanmugasundram reviewed gene: NCAPH: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPG2 | Achchuthan Shanmugasundram reviewed gene: NCAPG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609410; Phenotypes: Severe Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPD3 | Achchuthan Shanmugasundram reviewed gene: NCAPD3: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPD2 | Achchuthan Shanmugasundram reviewed gene: NCAPD2: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBN | Achchuthan Shanmugasundram reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590180, 3802554; Phenotypes: NIJMEGEN BREAKAGE SYNDROME, OMIM:251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBEA | Achchuthan Shanmugasundram reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269351; Phenotypes: NBEA Neurodevelopment disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBAS | Achchuthan Shanmugasundram reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073778; Phenotypes: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, OMIM:616483, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAXE | Achchuthan Shanmugasundram reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616477; Phenotypes: Lethal Neurometabolic Disorder of Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAXD | Achchuthan Shanmugasundram reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: 30576410; Phenotypes: Neurodegenerative disorder exacerbated by febrile illnesses; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS2 | Achchuthan Shanmugasundram reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32020600, 25807530, 28716262, 28077841, 25385316, 30327238, 35703918, 34415467, 25629079; Phenotypes: NARS2-associated oxidative phosphorylation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS | Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: NARS1 Neurodevelopmental Disorder (monoallelic), NARS1 Neurodevelopmental Disorder (biallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAPB | Achchuthan Shanmugasundram reviewed gene: NAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28097321, 26235277, 33189936; Phenotypes: NAPB-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NANS | Achchuthan Shanmugasundram reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27213289; Phenotypes: infantile-onset severe developmental delay and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NALCN | Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGS | Achchuthan Shanmugasundram reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 12594532, 12754705; Phenotypes: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, OMIM:237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGLU | Achchuthan Shanmugasundram reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: 11068184, 21937992, 12202988, 10094189, 8650226, 9832037; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3B, OMIM:252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGA | Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2564952, 2243144, 8071745, 11251574, 8782044; Phenotypes: KANZAKI DISEASE, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAE1 | Achchuthan Shanmugasundram reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36608681; Phenotypes: NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NADSYN1 | Achchuthan Shanmugasundram reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883644, 35491967; Phenotypes: NADSYN1-related Congenital NAD Deficiency Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NADK2 | Achchuthan Shanmugasundram reviewed gene: NADK2: Rating: RED; Mode of pathogenicity: ; Publications: 24847004; Phenotypes: Dienoyl-CoA reductase deficiency with hyperlysinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NACC1 | Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA20 | Achchuthan Shanmugasundram reviewed gene: NAA20: Rating: RED; Mode of pathogenicity: Other; Publications: 34230638; Phenotypes: NAA20-associated developmental delay and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA15 | Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23665959, 29656860, 28191889; Phenotypes: CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA10 | Achchuthan Shanmugasundram reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24431331, 30842225, 21700266, 25099252; Phenotypes: X-linked anophthalmia syndrome, OGDEN SYNDROME, OMIM:300855, NONPECIFIC SEVERE ID; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYT1L | Achchuthan Shanmugasundram reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28859103; Phenotypes: MYT1L syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYT1 | Achchuthan Shanmugasundram reviewed gene: MYT1: Rating: RED; Mode of pathogenicity: ; Publications: 27358179; Phenotypes: OAVS/Goldenhar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYSM1 | Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: RED; Mode of pathogenicity: ; Publications: 26220525, 32640305, 28115216, 33618624, 24288411; Phenotypes: MYSM1-related congenital bone marrow failure, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYRF | Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYPN | Achchuthan Shanmugasundram reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Childhood-Onset, Slowly Progressive Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOCD | Achchuthan Shanmugasundram reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31513549; Phenotypes: Congenital megabladder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOC | Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO7A | Achchuthan Shanmugasundram reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7870171, 9171833; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 2, OMIM:600060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO5B | Achchuthan Shanmugasundram reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006234, 18724368; Phenotypes: MICROVILLUS INCLUSION DISEASE, OMIM:251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO5A | Achchuthan Shanmugasundram reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22711375, 9207796, 12148598; Phenotypes: GRISCELLI SYNDROME TYPE 3, OMIM:609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO18B | Achchuthan Shanmugasundram reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25748484, 31195167, 27858739, 32184166, 32637634; Phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLPF | Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLK | Achchuthan Shanmugasundram reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28602422; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYL1 | Achchuthan Shanmugasundram reviewed gene: MYL1: Rating: RED; Mode of pathogenicity: ; Publications: 30215711; Phenotypes: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH9 | Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH6 | Achchuthan Shanmugasundram reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 29536580, 15735645, 31638415, 20656787, 29969989, 29505555, 34481090; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH3 | Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH11 | Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: 25407000, 29575632; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH10 | Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: RED; Mode of pathogenicity: ; Publications: 25003005, 25356899; Phenotypes: MYH10-related Multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYF5 | Achchuthan Shanmugasundram reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29887215; Phenotypes: External Ophthalmoplegia, Rib, and Vertebral Anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYCN | Achchuthan Shanmugasundram reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15821734, 16906565, 18671284, 18470948; Phenotypes: FEINGOLD SYNDROME TYPE 1, OMIM:164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYCBP2 | Achchuthan Shanmugasundram reviewed gene: MYCBP2: Rating: RED; Mode of pathogenicity: ; Publications: 36200388; Phenotypes: MYCBP2-related developmental delay with corpus callosum defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYBPC1 | Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MUT | Achchuthan Shanmugasundram reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670635, 11528502, 1977311, 7909321, 7951229, 2881300, 16451139, 16281286, 1968706, 17966092; Phenotypes: METHYLMALONIC ACIDURIA TYPE MUT, OMIM:251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTSS1L | Achchuthan Shanmugasundram reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36067766; Phenotypes: MTSS2-associated syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTRR | Achchuthan Shanmugasundram reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 15714522, 9501215, 12555939; Phenotypes: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, OMIM:236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTR | Achchuthan Shanmugasundram reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968737, 12068375, 8968736, 9683607; Phenotypes: METHYLCOBALAMIN DEFICIENCY TYPE G, OMIM:250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTOR | Achchuthan Shanmugasundram reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23934111, 28892148; Phenotypes: Smith-Kingsmore syndrome, OMIM:616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTO1 | Achchuthan Shanmugasundram reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608499; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS, OMIM:614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTM1 | Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTHFR | Achchuthan Shanmugasundram reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTF1 | Achchuthan Shanmugasundram reviewed gene: MTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MT-TP | Achchuthan Shanmugasundram reviewed gene: MT-TP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MERRF, OMIM:545000; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MT-TL1 | Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: Other; Publications: 34075211; Phenotypes: MT-TL1-associated mitochondrial disorder; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSX2 | Achchuthan Shanmugasundram reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14571277; Phenotypes: ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, OMIM:168550, CRANIOSYNOSTOSIS, TYPE 2, OMIM:604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSX1 | Achchuthan Shanmugasundram reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11369996, 12807959, 15354328; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSL3 | Achchuthan Shanmugasundram reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30224647; Phenotypes: MSL3 syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSL2 | Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 31332282; Phenotypes: MSL2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSI1 | Achchuthan Shanmugasundram reviewed gene: MSI1: Rating: RED; Mode of pathogenicity: Other; Publications: 28572454; Phenotypes: MSI1-associated Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS34 | Achchuthan Shanmugasundram reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777931; Phenotypes: Leigh Syndrome with Instability of the Small Mitoribosomal Subunit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS22 | Achchuthan Shanmugasundram reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17873122; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS2 | Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRE11 | Achchuthan Shanmugasundram reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11371508, 24332946, 15269180, 10612394; Phenotypes: ATAXIA TELANGIECTASIA-LIKE DISORDER, OMIM:604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRAS | Achchuthan Shanmugasundram reviewed gene: MRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28289718, 31173466, 31108500; Phenotypes: NOONAN SYNDROME 11, OMIM:618499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPZ | Achchuthan Shanmugasundram reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15184631, 8816708, 12953275, 26310628; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPV17 | Achchuthan Shanmugasundram reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: 16582910, 18695062; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 6, OMIM:256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPLKIP | Achchuthan Shanmugasundram reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1, OMIM:234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPI | Achchuthan Shanmugasundram reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: ; Publications: 9525984, 9585601, 3080572; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPDZ | Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: RED; Mode of pathogenicity: ; Publications: 23240096; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPDU1 | Achchuthan Shanmugasundram reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11733556, 11733564; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPC2 | Achchuthan Shanmugasundram reviewed gene: MPC2: Rating: RED; Mode of pathogenicity: Other; Publications: 36417180; Phenotypes: MPC2-related metabolic disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MORC2 | Achchuthan Shanmugasundram reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32693025, 30624633, 28771897, 26497905; Phenotypes: MORC2 - axonal neuropathy and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOGS | Achchuthan Shanmugasundram reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOCS2 | Achchuthan Shanmugasundram reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOCS1 | Achchuthan Shanmugasundram reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MNX1 | Achchuthan Shanmugasundram reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216552, 16906559, 10631160, 7550324, 9843207; Phenotypes: CURRARINO SYNDROME, OMIM:176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MN1 | Achchuthan Shanmugasundram reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31839203, 31834374; Phenotypes: MN1 C-terminal truncation syndrome , OMIM:618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP21 | Achchuthan Shanmugasundram reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437028, 26437029, 26429889; Phenotypes: MMP21-associated heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP15 | Achchuthan Shanmugasundram reviewed gene: MMP15: Rating: RED; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: MMP15-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP14 | Achchuthan Shanmugasundram reviewed gene: MMP14: Rating: RED; Mode of pathogenicity: Other; Publications: 22922033; Phenotypes: WINCHESTER SYNDROME, OMIM:277950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP13 | Achchuthan Shanmugasundram reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 8412645; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMGT1 | Achchuthan Shanmugasundram reviewed gene: MMGT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MMGT1-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMADHC | Achchuthan Shanmugasundram reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD, OMIM:277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMACHC | Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631720, 16311595, 16714133, 25687216, 11320193; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMAB | Achchuthan Shanmugasundram reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12471062; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLB, OMIM:251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMAA | Achchuthan Shanmugasundram reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12438653; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLA, OMIM:251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MLYCD | Achchuthan Shanmugasundram reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MALONYL-COA DECARBOXYLASE DEFICIENCY, OMIM:248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MLC1 | Achchuthan Shanmugasundram reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935341, 11254442, 12189496, 21624973, 14615938; Phenotypes: LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS, OMIM:604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MKS1 | Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MKKS | Achchuthan Shanmugasundram reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802661; Phenotypes: MCKUSICK-KAUFMAN SYNDROME, OMIM:236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MITF | Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR184 | Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR17HG | Achchuthan Shanmugasundram reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: ; Publications: 21892160; Phenotypes: FEINGOLD SYNDROME, OMIM:614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MID1 | Achchuthan Shanmugasundram reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17221865, 12545276, 15558842; Phenotypes: OPITZ G/BBB SYNDROME, X-LINKED, OMIM:300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MICU1 | Achchuthan Shanmugasundram reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, OMIM:615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIB1 | Achchuthan Shanmugasundram reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: ; Publications: 33057194, 30322850; Phenotypes: MIB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MGP | Achchuthan Shanmugasundram reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916809, 15810001; Phenotypes: KEUTEL SYNDROME, OMIM:245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MGAT2 | Achchuthan Shanmugasundram reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8808595, 11228641, 20684000; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A, OMIM:212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD8 | Achchuthan Shanmugasundram reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS, OMIM:610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD2A | Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFRP | Achchuthan Shanmugasundram reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15976030, 17167404, 1258954; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 5, OMIM:611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFN2 | Achchuthan Shanmugasundram reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MFN2-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFF | Achchuthan Shanmugasundram reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26783368, 30581454, 22499341, 32181496; Phenotypes: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | METTL5 | Achchuthan Shanmugasundram reviewed gene: METTL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564433; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | METTL23 | Achchuthan Shanmugasundram reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: ; Publications: 32067349, 24626631, 24501276; Phenotypes: METTL23-related Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MESP2 | Achchuthan Shanmugasundram reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122512, 18485326; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 2, OMIM:608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MESD | Achchuthan Shanmugasundram reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564437; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEOX1 | Achchuthan Shanmugasundram reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KLIPPEL-FEIL ANOMALY, OMIM:118100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEIS2 | Achchuthan Shanmugasundram reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MEIS2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF8 | Achchuthan Shanmugasundram reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARPENTER SYNDROME, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF10 | Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEF2C | Achchuthan Shanmugasundram reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592390, 34022131, 35719119, 20513142, 23001426; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS, OMIM:613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED27 | Achchuthan Shanmugasundram reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: MED27-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED25 | Achchuthan Shanmugasundram reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31602195, 25792360, 25527630, 32324310; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED23 | Achchuthan Shanmugasundram reviewed gene: MED23: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED17 | Achchuthan Shanmugasundram reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20950787; Phenotypes: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED13L | Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 25712080, 29511999, 29959045, 25758992, 25137640, 24781760, 28371282, 28645799, 29159987, 23403903; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED13 | Achchuthan Shanmugasundram reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740699; Phenotypes: MED13 - Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED12 | Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33244166, 31536828, 6711603, 17369503, 24123922, 17334363, 24715367, 28544239, 27980443, 27312080, 33244165, 30006928, 27286923, 27500536, 35385210; Phenotypes: LUJAN-FRYNS SYNDROME, OMIM:309520, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED11 | Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36001086; Phenotypes: MED11-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECR | Achchuthan Shanmugasundram reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27817865; Phenotypes: Childhood-Onset Dystonia and Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECP2 | Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689435, 10232754, 11313756, 11402105, 19034540, 11007980, 9377804, 10814718, 15034579, 10854091, 29618507, 11238684, 16966553, 12481990, 10508514, 10767337, 11022934, 16630165, 12615169, 15857422, 18989701, 10577905, 11930274, 11807877, 11214906; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE, OMIM:300260, CHROMOSOME XQ28 DUPLICATION SYNDROME, OMIM:300815, RETT SYNDROME (RTT), OMIM:312750, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS, OMIM:300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECOM | Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MDH2 | Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCPH1 | Achchuthan Shanmugasundram reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20978018, 7693575, 16311745, 12046007, 11857108; Phenotypes: MICROCEPHALY PRIMARY TYPE 1, OMIM:251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCOLN1 | Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11030752, 10441585, 10973263, 15523648, 17239335; Phenotypes: MUCOLIPIDOSIS IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCEE | Achchuthan Shanmugasundram reviewed gene: MCEE: Rating: GREEN; Mode of pathogenicity: ; Publications: 16752391; Phenotypes: METHYLMALONYL-COA EPIMERASE DEFICIENCY, OMIM:251120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC2 | Achchuthan Shanmugasundram reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OMIM:210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC1 | Achchuthan Shanmugasundram reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY, OMIM:210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MC2R | Achchuthan Shanmugasundram reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407210, 18492762, 8636348, 8094489, 8227361, 12213892; Phenotypes: GLUCOCORTICOID DEFICIENCY 1, OMIM:202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MBOAT7 | Achchuthan Shanmugasundram reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616480; Phenotypes: Intellectual Disability Accompanied by Epilepsy and Autistic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MBD5 | Achchuthan Shanmugasundram reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23422940; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAU2 | Achchuthan Shanmugasundram reviewed gene: MAU2: Rating: RED; Mode of pathogenicity: ; Publications: 32433956; Phenotypes: MAU2 neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MATN3 | Achchuthan Shanmugasundram reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14729835, 13849708, 11479597, 15948199; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAT1A | Achchuthan Shanmugasundram reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7560086, 4421454, 3812486, 8770875, 1527987, 7229751, 1683972, 10677294; Phenotypes: METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, OMIM:250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAST1 | Achchuthan Shanmugasundram reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MAST1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MASP1 | Achchuthan Shanmugasundram reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 21035106, 17937425; Phenotypes: 3MC SYNDROME 1, OMIM:257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPRE2 | Achchuthan Shanmugasundram reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637975; Phenotypes: Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPKAPK5 | Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: MAPKAPK5-associated syndrome with synpolydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK8IP3 | Achchuthan Shanmugasundram reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612693; Phenotypes: Intellectual Disability with Variable Brain Anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK10 | Achchuthan Shanmugasundram reviewed gene: MAPK10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, OMIM:606369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK1 | Achchuthan Shanmugasundram reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32721402; Phenotypes: MAPK1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP3K7 | Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426733, 27426734; Phenotypes: FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP3K1 | Achchuthan Shanmugasundram reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129722, 5419329, 12476449; Phenotypes: 46XY SEX REVERSAL 6, OMIM:613762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K2 | Achchuthan Shanmugasundram reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K1 | Achchuthan Shanmugasundram reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAOA | Achchuthan Shanmugasundram reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24169519; Phenotypes: BRUNNER SYNDROME, OMIM:300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MANBA | Achchuthan Shanmugasundram reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1499588, 16401745, 3762648, 2079835, 12890191, 1623631; Phenotypes: LYSOSOMAL BETA-MANNOSIDOSIS, OMIM:248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2C1 | Achchuthan Shanmugasundram reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: MAN2C1-associated neurodevelopmental disorder with cerebral malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2B1 | Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758606, 9158146, 4358183, 22161967; Phenotypes: LYSOSOMAL ALPHA-MANNOSIDOSIS, OMIM:248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2A2 | Achchuthan Shanmugasundram reviewed gene: MAN2A2: Rating: RED; Mode of pathogenicity: Other; Publications: 36357165; Phenotypes: MAN2A2-related disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN1B1 | Achchuthan Shanmugasundram reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 26279649, 24566669, 26577042, 21763484, 24348268; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAMLD1 | Achchuthan Shanmugasundram reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17086185; Phenotypes: X-LINKED HYPOSPADIAS TYPE 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGT1 | Achchuthan Shanmugasundram reviewed gene: MAGT1: Rating: RED; Mode of pathogenicity: ; Publications: 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 95, OMIM:300716; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGI2 | Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGEL2 | Achchuthan Shanmugasundram reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27195816, 26365340, 24076603; Phenotypes: Schaaf-Yang syndrome, OMIM:615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAFB | Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAF | Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MADD | Achchuthan Shanmugasundram reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: ; Publications: 32761064; Phenotypes: MADD-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MACF1 | Achchuthan Shanmugasundram reviewed gene: MACF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30471716; Phenotypes: Defects in Neuronal Migration and Axon Guidance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAB21L2 | Achchuthan Shanmugasundram reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25719200, 24906020, 26116559; Phenotypes: MICROPHTHALMIA, SYNDROMIC 14, OMIM:615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAB21L1 | Achchuthan Shanmugasundram reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245, 27103078; Phenotypes: Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LZTR1 | Achchuthan Shanmugasundram reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29959388, 31825158, 25795793, 30859559, 30664951, 30368668, 31533111; Phenotypes: NOONAN SYNDROME 10, OMIM:616564, Noonan syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LYST | Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 11857544, 8896560, 8751863, 10482950, 9215679, 8751864; Phenotypes: CHEDIAK-HIGASHI SYNDROME, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP3 | Achchuthan Shanmugasundram reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25669657; Phenotypes: PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP2 | Achchuthan Shanmugasundram reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20617341, 19361779, 22025892, 19656777, 20179738; Phenotypes: MICROSPHEROPHAKIA, OMIM:251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP1 | Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: LTBP1-related cutis laxa and craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC6 | Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC56 | Achchuthan Shanmugasundram reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388400; Phenotypes: Mucociliary Clearance and Laterality Defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRPPRC | Achchuthan Shanmugasundram reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12529507; Phenotypes: LEIGH SYNDROME, FRENCH-CANADIAN TYPE, OMIM:220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRPAP1 | Achchuthan Shanmugasundram reviewed gene: LRPAP1: Rating: RED; Mode of pathogenicity: ; Publications: 23830514; Phenotypes: EXTREME MYOPIA, MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP6 | Achchuthan Shanmugasundram reviewed gene: LRP6: Rating: RED; Mode of pathogenicity: ; Publications: 26963285; Phenotypes: Tooth Agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP5 | Achchuthan Shanmugasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15981244, 14727154, 11719191, 9056564, 15024691, 20034086, 12579474, 11741193, 9831343; Phenotypes: VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, HIGH BONE MASS TRAIT, OMIM:601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP4 | Achchuthan Shanmugasundram reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18978656, 9182770, 11260233, 14577675, 10756427, 12868467, 20381006; Phenotypes: CENANI-LENZ SYNDACTYLY SYNDROME, OMIM:212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP2 | Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRIT3 | Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRIG2 | Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRBA | Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608502; Phenotypes: CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRAT | Achchuthan Shanmugasundram reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LONP1 | Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34547244, 25574826; Phenotypes: CODAS SYNDROME, OMIM:600373, LONP1-associated congenital diaphragmatic hernia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LNPK | Achchuthan Shanmugasundram reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35599435, 30032983; Phenotypes: LNPK-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMX1B | Achchuthan Shanmugasundram reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10854116, 9837817, 9590287, 9618165, 18414507; Phenotypes: NAIL-PATELLA SYNDROME, OMIM:161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMOD3 | Achchuthan Shanmugasundram reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31572445, 30642739, 28815944, 30291184, 25250574, 29331079, 32008911; Phenotypes: NEMALINE MYOPATHY 10, OMIM:616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNB2 | Achchuthan Shanmugasundram reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33033404; Phenotypes: LMNB2-related Primary Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNB1 | Achchuthan Shanmugasundram reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32910914, 33033404; Phenotypes: LMNB1-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNA | Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588, HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMBRD2 | Achchuthan Shanmugasundram reviewed gene: LMBRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 32820033; Phenotypes: LMBRD2-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMBRD1 | Achchuthan Shanmugasundram reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19136951; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF, OMIM:277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT2 | Achchuthan Shanmugasundram reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28757203; Phenotypes: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT1 | Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPN | Achchuthan Shanmugasundram reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: ICHTHYOSIS, LAMELLAR, 4, OMIM:613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LINS1 | Achchuthan Shanmugasundram reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LINGO1 | Achchuthan Shanmugasundram reviewed gene: LINGO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28837161; Phenotypes: LINGO1 related intellectual disability with microcephaly, speech and motor delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIG4 | Achchuthan Shanmugasundram reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 16357942, 11779494; Phenotypes: LIG4 SYNDROME, OMIM:606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIFR | Achchuthan Shanmugasundram reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27194968, 14740318; Phenotypes: Stuve-Wiedeman syndrome, OMIM:601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIAS | Achchuthan Shanmugasundram reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152680, 26108146; Phenotypes: Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX4 | Achchuthan Shanmugasundram reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:290135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX3 | Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407919, 10835633, 17327381; Phenotypes: PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3, OMIM:221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LGI4 | Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LFNG | Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16385447; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LETM1 | Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36055214; Phenotypes: LETM1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD3 | Achchuthan Shanmugasundram reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19438932, 12749062, 17223882, 15489854, 9295073; Phenotypes: BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD2 | Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEFTY2 | Achchuthan Shanmugasundram reviewed gene: LEFTY2: Rating: RED; Mode of pathogenicity: ; Publications: 10053005; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LDB3 | Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LBR | Achchuthan Shanmugasundram reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959; Phenotypes: HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA, OMIM:215140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAS1L | Achchuthan Shanmugasundram reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: Other; Publications: 25644381, 34653234; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARS2 | Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARP7 | Achchuthan Shanmugasundram reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 26374271, 26607181; Phenotypes: ALAZAMI SYNDROME, OMIM:615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARGE1 | Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMP2 | Achchuthan Shanmugasundram reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15907287, 8504498, 12112061, 10972294, 15253947, 15673802, 3087571; Phenotypes: DANON DISEASE, OMIM:300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMC3 | Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21572413; Phenotypes: OCCIPITAL CORTICAL MALFORMATIONS, OMIM:614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMB1 | Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA2 | Achchuthan Shanmugasundram reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12601554, 11591858, 18700894, 9158149, 7550355, 11071490, 16216942, 12552556; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA1 | Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 25105227; Phenotypes: CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, OMIM:615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAGE3 | Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 2, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | L2HGDH | Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15385440, 19911013; Phenotypes: L-2-HYDROXYGLUTARIC ACIDURIA, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | L1CAM | Achchuthan Shanmugasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 3460961, 15368500, 9643285, 7920660, 9279760, 8401576, 15148591, 1303258, 8929944, 18136715, 11857550, 26916325, 8401593, 7881431, 7920659; Phenotypes: HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS, OMIM:307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRT74 | Achchuthan Shanmugasundram reviewed gene: KRT74: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21188418; Phenotypes: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRIT1 | Achchuthan Shanmugasundram reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRAS | Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16773572, 16474405, 19396835; Phenotypes: NOONAN SYNDROME TYPE 3, OMIM:609942, CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KPTN | Achchuthan Shanmugasundram reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KPNA7 | Achchuthan Shanmugasundram reviewed gene: KPNA7: Rating: RED; Mode of pathogenicity: Other; Publications: 24045845; Phenotypes: Gomez-Lopez-Fernandes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT5B | Achchuthan Shanmugasundram reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 28135719; Phenotypes: KMT5B syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2E | Achchuthan Shanmugasundram reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079897, 34321323; Phenotypes: KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2D | Achchuthan Shanmugasundram reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29283410, 27573763, 31935506, 28404210, 31949313, 29482518, 25944076, 24739679, 32083401, 27302555, 25142838, 30569626, 25972376, 27530205, 35060672, 20711175, 21607748, 29914387, 28295206, 21671394; Phenotypes: KMT2D multiple malformations disorder, KABUKI SYNDROME, OMIM:147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2C | Achchuthan Shanmugasundram reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 29069077; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2B | Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2A | Achchuthan Shanmugasundram reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24818805, 22795537, 25929198, 30841869, 32311999, 24886118, 31250358, 27759909, 28815892, 25810209, 29203834, 31044088, 31168168, 27777327, 30549396, 27320412; Phenotypes: WIEDEMANN-STEINER SYNDROME, OMIM:605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL7 | Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL40 | Achchuthan Shanmugasundram reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746549; Phenotypes: NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, OMIM:615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL15 | Achchuthan Shanmugasundram reviewed gene: KLHL15: Rating: RED; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF8 | Achchuthan Shanmugasundram reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: ; Publications: 22495311; Phenotypes: NONSYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF7 | Achchuthan Shanmugasundram reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29251763; Phenotypes: KLF7-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF1 | Achchuthan Shanmugasundram reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21055716; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV, OMIM:613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KITLG | Achchuthan Shanmugasundram reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: Other; Publications: 26522471; Phenotypes: WAARDENBURG SYNDROME TYPE 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIT | Achchuthan Shanmugasundram reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HUMAN PIEBALDISM, OMIM:172800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIRREL3 | Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: Other; Publications: 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF7 | Achchuthan Shanmugasundram reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ACROCALLOSAL SYNDROME, OMIM:200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5C | Achchuthan Shanmugasundram reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5B | Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36018820, 35342932; Phenotypes: KIF5B-related disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5A | Achchuthan Shanmugasundram reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27463701, 27414745; Phenotypes: KIF5A-associated severe neonatal myoclonus, OMIM:617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF4A | Achchuthan Shanmugasundram reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: ; Publications: 24812067; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF3B | Achchuthan Shanmugasundram reviewed gene: KIF3B: Rating: RED; Mode of pathogenicity: Other; Publications: 32386558; Phenotypes: KIF3B-related ciliopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF2A | Achchuthan Shanmugasundram reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF22 | Achchuthan Shanmugasundram reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152678, 19277648; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, OMIM:603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF1BP | Achchuthan Shanmugasundram reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883926; Phenotypes: GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, OMIM:609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF1A | Achchuthan Shanmugasundram reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25253658, 25265257, 26125038, 26486474, 21820098, 30385166, 21376300, 32096284, 26354034; Phenotypes: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OMIM:614213, NESCAV SYNDROME, OMIM:614255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF14 | Achchuthan Shanmugasundram reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28892560, 24128419; Phenotypes: Severe microcephaly and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF11 | Achchuthan Shanmugasundram reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284827, 15930898; Phenotypes: AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY, OMIM:152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIDINS220 | Achchuthan Shanmugasundram reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 27005418, 28934391, 32909676; Phenotypes: KIDINS220-related Developmental Disorder, biallelic, Spastic paraplegia, intellectual disability, nystagmus, and obesity., OMIM:617296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA1109 | Achchuthan Shanmugasundram reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25558065, 29290337; Phenotypes: Brain atrophy, Dandy Walker and Contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA0586 | Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26026149; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA0391 | Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: RED; Mode of pathogenicity: ; Publications: 34715011; Phenotypes: PRORP-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM6B | Achchuthan Shanmugasundram reviewed gene: KDM6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, KDM6B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM6A | Achchuthan Shanmugasundram reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: KABUKI SYNDROME 2, OMIM:300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5C | Achchuthan Shanmugasundram reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203167, 15586325, 19826449, 18697827, 21575681, 16538222; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5B | Achchuthan Shanmugasundram reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 24307393, 28135719, 30409806, 28720891; Phenotypes: AUTISM, OMIM:209850, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5A | Achchuthan Shanmugasundram reviewed gene: KDM5A: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM4B | Achchuthan Shanmugasundram reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232677; Phenotypes: KDM4B-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM3B | Achchuthan Shanmugasundram reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30929739; Phenotypes: DIETS-JONGMANS SYNDROME, OMIM:618846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM2B | Achchuthan Shanmugasundram reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36322151; Phenotypes: KDM2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM1A | Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29559475, 26656649; Phenotypes: Developmental delay and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDELR2 | Achchuthan Shanmugasundram reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: KDELR2-related Osteogenesis Imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD7 | Achchuthan Shanmugasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283, 17455289, 22748208; Phenotypes: PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726, NEURONAL CEROID LIPOFUSCINOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD1 | Achchuthan Shanmugasundram reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541344; Phenotypes: SCALP-EAR-NIPPLE SYNDROME, OMIM:181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT2 | Achchuthan Shanmugasundram reviewed gene: KCNT2: Rating: RED; Mode of pathogenicity: Other; Publications: 29740868; Phenotypes: Developmental and infantile epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT1 | Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ5 | Achchuthan Shanmugasundram reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28669405; Phenotypes: Intellectual Disability with or without Epileptic Encephalopathy, Intellectual Disability with or without Epileptic Encephalopathy, activating; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ3 | Achchuthan Shanmugasundram reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCNQ3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ2 | Achchuthan Shanmugasundram reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25880994, 28832002, 27602407, 15249611, 28687180, 22926866, 25566516, 17872363, 27861786, 28728838, 25092550, 9430594, 23774309, 30107960, 11175290, 24107868, 11572947, 28631195, 31199083, 10323247, 23692823, 23621294, 31152295, 29687029, 31951342, 9425895, 16235065, 24371303, 22169383, 31418850, 30530441, 22275249, 12742592; Phenotypes: BENIGN NEONATAL EPILEPSY TYPE 1, OMIM:121200, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7, OMIM:613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ1 | Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1, OMIM:220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNN3 | Achchuthan Shanmugasundram reviewed gene: KCNN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31155282; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNMA1 | Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK9 | Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: BIRK-BAREL SYNDROME, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK4 | Achchuthan Shanmugasundram reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK3 | Achchuthan Shanmugasundram reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: KCNK3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ8 | Achchuthan Shanmugasundram reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ6 | Achchuthan Shanmugasundram reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620207, 36071510; Phenotypes: KEPPEN-LUBINSKY SYNDROME, OMIM:614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ11 | Achchuthan Shanmugasundram reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: 8923010, 9356020; Phenotypes: DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, OMIM:261090, FAMILIAL HYPERINSULINISM, OMIM:3272; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ10 | Achchuthan Shanmugasundram reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: 19420365, 19289823, 21849804, 20651251; Phenotypes: SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-INTELLECTUAL DEVELOPMENTAL DISORDER-ELECTROLYTE IMBALANCE, OMIM:612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH5 | Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36307226, 23647072; Phenotypes: KCNH5-related epilepsy and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH1 | Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNE1 | Achchuthan Shanmugasundram reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30461122; Phenotypes: LONG QT SYNDROME-5, OMIM:613695, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCND3 | Achchuthan Shanmugasundram reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCND3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC3 | Achchuthan Shanmugasundram reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC1 | Achchuthan Shanmugasundram reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25401298; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC 7, OMIM:616187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNB1 | Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA4 | Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA2 | Achchuthan Shanmugasundram reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25751627; Phenotypes: EPILEPTIC ENCEPHALOPATHY Gain-of-function, EPILEPTIC ENCEPHALOPATHY Loss-of-function; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA1 | Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: Other; Publications: 30055040, 33355533, 31586945; Phenotypes: KCNA1-related epileptic encephalopathy, biallelic, KCNA1-related epileptic encephalopathy, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KBTBD13 | Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21109227, 21104864, 12805120; Phenotypes: NEMALINE MYOPATHY 6, OMIM:609273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KATNB1 | Achchuthan Shanmugasundram reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25521378, 25521379; Phenotypes: KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT6A | Achchuthan Shanmugasundram reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899504, 25728777, 30775047, 27133397, 30245513, 25728775, 35892268, 32041641, 31754438; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 32, OMIM:616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT5 | Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32822602; Phenotypes: KAT5-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KARS | Achchuthan Shanmugasundram reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920668, 23768514; Phenotypes: DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KANSL1 | Achchuthan Shanmugasundram reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22544363, 22544367; Phenotypes: CHROMOSOME 17Q21.31 MICRODELETION SYNDROME, OMIM:610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KANK1 | Achchuthan Shanmugasundram reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: ; Publications: 16301218; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2, OMIM:612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JMJD1C | Achchuthan Shanmugasundram reviewed gene: JMJD1C: Rating: RED; Mode of pathogenicity: ; Publications: 26181491, 31954878; Phenotypes: JMJD1C-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JARID2 | Achchuthan Shanmugasundram reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33077894, 35533077; Phenotypes: JARID2-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAM3 | Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAK3 | Achchuthan Shanmugasundram reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7659163, 10982185, 7481768, 11741532; Phenotypes: SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED, OMIM:600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAGN1 | Achchuthan Shanmugasundram reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25129144; Phenotypes: SEVERE CONGENITAL NEUTROPENIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAG2 | Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33861953; Phenotypes: JAG2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAG1 | Achchuthan Shanmugasundram reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35761784; Phenotypes: ALAGILLE SYNDROME, OMIM:118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IVD | Achchuthan Shanmugasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: ; Publications: 1310317, 2063866, 10677295, 15486829; Phenotypes: ISOVALERIC ACIDEMIA, OMIM:243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITPR1 | Achchuthan Shanmugasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27062503, 22986007, 27108798, 27108797; Phenotypes: Gillespie Syndrome, OMIM:206700, Gillespie Syndrome, monoallelic, OMIM:206700, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA8 | Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RENAL HYPODYSPLASIA/APLASIA 1, OMIM:191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA7 | Achchuthan Shanmugasundram reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA6 | Achchuthan Shanmugasundram reviewed gene: ITGA6: Rating: RED; Mode of pathogenicity: ; Publications: 9185503; Phenotypes: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA, OMIM:226730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA3 | Achchuthan Shanmugasundram reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22512483; Phenotypes: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, OMIM:614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITCH | Achchuthan Shanmugasundram reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170897; Phenotypes: AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM, OMIM:613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ISPD | Achchuthan Shanmugasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 7604843, 22522421, 9492098, 23217329; Phenotypes: WALKER WARBURG SYNDROME, OMIM:614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRX5 | Achchuthan Shanmugasundram reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRF6 | Achchuthan Shanmugasundram reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920575, 19842205, 14757865, 12219090, 18478600, 14618417, 20803643; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, OMIM:119500, VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRF2BPL | Achchuthan Shanmugasundram reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193138; Phenotypes: Neurological Phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IREB2 | Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35602653, 31243445, 30915432; Phenotypes: IREB2-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC2 | Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24306141, 26793055, 29026562, 26733290, 27665735, 30206421, 23674175, 31415821, 31490346, 31829726, 28295038, 20473311, 28815955, 30666632; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC1 | Achchuthan Shanmugasundram reviewed gene: IQSEC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31607425; Phenotypes: Intellectual Disability, Developmental Delay, and Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IPO8 | Achchuthan Shanmugasundram reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34010604, 34010605; Phenotypes: IPO8-related syndromic thoracic aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPPL1 | Achchuthan Shanmugasundram reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23273569; Phenotypes: OPSISMODYSPLASIA, OMIM:258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5K | Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5E | Achchuthan Shanmugasundram reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 19668215, 19668216; Phenotypes: JOUBERT SYNDROME TYPE 1, OMIM:213300, INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, OMIM:610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP4A | Achchuthan Shanmugasundram reviewed gene: INPP4A: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IMPAD1 | Achchuthan Shanmugasundram reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549340; Phenotypes: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE, OMIM:614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL1RAPL1 | Achchuthan Shanmugasundram reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10471494, 18801879, 16470793, 19012350; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 21, OMIM:300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL11RA | Achchuthan Shanmugasundram reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498618; Phenotypes: Autosomal Recessive Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL11 | Achchuthan Shanmugasundram reviewed gene: IL11: Rating: RED; Mode of pathogenicity: Other; Publications: 21741611; Phenotypes: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, OMIM:614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IHH | Achchuthan Shanmugasundram reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12384778, 12525541, 16871364, 19277064, 18629882, 12632327, 11455389; Phenotypes: BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGSF1 | Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGHMBP2 | Achchuthan Shanmugasundram reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15290238, 11528396; Phenotypes: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, OMIM:604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGFBP7 | Achchuthan Shanmugasundram reviewed gene: IGFBP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12441727; Phenotypes: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, OMIM:614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF2 | Achchuthan Shanmugasundram reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26154720; Phenotypes: CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME, OMIM:180860, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF1R | Achchuthan Shanmugasundram reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 15928254, 14657428, 22130793, 17264177; Phenotypes: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, biallelic, OMIM:270450, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OMIM:270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF1 | Achchuthan Shanmugasundram reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15769976, 14684690, 8857020; Phenotypes: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY, OMIM:608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGBP1 | Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT80 | Achchuthan Shanmugasundram reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17468754; Phenotypes: ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT74 | Achchuthan Shanmugasundram reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486776, 33748949, 32144365, 33531668; Phenotypes: IFT74-associated ciliopathy, OMIM:617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT43 | Achchuthan Shanmugasundram reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378380; Phenotypes: CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT172 | Achchuthan Shanmugasundram reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: 24140113; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT140 | Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: 22503633; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT122 | Achchuthan Shanmugasundram reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17022080, 19760620, 20493458; Phenotypes: CRANIOECTODERMAL DYSPLASIA, OMIM:218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFITM5 | Achchuthan Shanmugasundram reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22863190, 22863195; Phenotypes: OSTEOGENESIS IMPERFECTA TYPE V, OMIM:610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFIH1 | Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDUA | Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8328452, 7951228, 10466419, 4221470, 10735634, 6821579, 7550232, 9391892, 8664897; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 1S, OMIM:607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDS | Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1284597, 1303211, 1550586, 7581397, 8364592, 1355630, 8940265, 12794697, 1639384; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 2, OMIM:309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS2 | Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: RED; Mode of pathogenicity: ; Publications: 25130867, 28328135; Phenotypes: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS | Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYLS1 | Achchuthan Shanmugasundram reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15843405; Phenotypes: HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYDIN | Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL2 | Achchuthan Shanmugasundram reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28081210, 34906488; Phenotypes: HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL1 | Achchuthan Shanmugasundram reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8793927; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 9, OMIM:601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HUWE1 | Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 18252223, 23721686; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HTRA2 | Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSPG2 | Achchuthan Shanmugasundram reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11101850, 11279527, 11941538; Phenotypes: DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE, OMIM:224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSPD1 | Achchuthan Shanmugasundram reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSF4 | Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD3B7 | Achchuthan Shanmugasundram reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, OMIM:607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD17B4 | Achchuthan Shanmugasundram reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345094, 10400999, 11992265, 11743515, 9482850, 4061497, 2921319; Phenotypes: D-BIFUNCTIONAL PROTEIN DEFICIENCY, OMIM:261515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD17B10 | Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521307, 12555940, 16148061, 12696021; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 10, OMIM:300220, 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY, OMIM:300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HS2ST1 | Achchuthan Shanmugasundram reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: HS2ST1-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HRAS | Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17054105, 16835863, 18039947, 18247425, 17412879, 17468812, 16170316, 19995790, 16443854, 17056636; Phenotypes: CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OMIM:218040, COSTELLO SYNDROME, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HR | Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPSE2 | Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839856, 19669792, 11446407, 20560210; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPS1 | Achchuthan Shanmugasundram reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9705234, 9497254, 8274781, 10971344, 8896559; Phenotypes: HERMANSKY-PUDLAK SYNDROME, OMIM:203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPRT1 | Achchuthan Shanmugasundram reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23975452; Phenotypes: LESCH-NYHAN SYNDROME, OMIM:300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPGD | Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPDL | Achchuthan Shanmugasundram reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707086; Phenotypes: HPDL Neurodegenerative Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPD | Achchuthan Shanmugasundram reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942115; Phenotypes: TYROSINEMIA TYPE 3, OMIM:276710, HAWKINSINURIA, OMIM:140350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXD13 | Achchuthan Shanmugasundram reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12900906, 12414828, 17236141, 9758628, 12649808, 8817328, 19060004; Phenotypes: BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXC13 | Achchuthan Shanmugasundram reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315978, 23063621; Phenotypes: PURE HAIR AND NAIL ECTODERMAL DYSPLASIA, OMIM:614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXB1 | Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA13 | Achchuthan Shanmugasundram reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839976; Phenotypes: HAND-FOOT-GENITAL SYNDROME, OMIM:140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA11 | Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA1 | Achchuthan Shanmugasundram reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16155570, 18412118; Phenotypes: BOSLEY-SALIH-ALORAINY SYNDROME, OMIM:601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPU | Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 35138025; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPR | Achchuthan Shanmugasundram reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPK | Achchuthan Shanmugasundram reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30998304, 29904177; Phenotypes: Au-Kline Syndrome, OMIM:616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPH2 | Achchuthan Shanmugasundram reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27545675; Phenotypes: Neurodevelopmental Disorder in Females; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPH1 | Achchuthan Shanmugasundram reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 32335897; Phenotypes: HNRNPH1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPD | Achchuthan Shanmugasundram reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: HNRNPD-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPA2B1 | Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNF4A | Achchuthan Shanmugasundram reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8945471, 24285859; Phenotypes: HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1, OMIM:125850, ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY, OMIM:315353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNF1B | Achchuthan Shanmugasundram reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 11085914, 9398836, 11562418, 17440011, 15181075, 10484768, 10720943, 15068978, 12675839, 11317673; Phenotypes: RENAL CYSTS AND DIABETES SYNDROME, OMIM:137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMX1 | Achchuthan Shanmugasundram reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 25574057, 29140751; Phenotypes: OCULOAURICULAR SYNDROME, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCS2 | Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCL | Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGB3 | Achchuthan Shanmugasundram reviewed gene: HMGB3: Rating: RED; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGB1 | Achchuthan Shanmugasundram reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801; Phenotypes: HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome, HMGB1-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HLCS | Achchuthan Shanmugasundram reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, OMIM:253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HK1 | Achchuthan Shanmugasundram reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HK1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIVEP2 | Achchuthan Shanmugasundram reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27003583, 26153216; Phenotypes: HIVEP2 associated syndromic developmental delay with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST3H3 | Achchuthan Shanmugasundram reviewed gene: HIST3H3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4J | Achchuthan Shanmugasundram reviewed gene: HIST1H4J: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Intellectual disability with facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4C | Achchuthan Shanmugasundram reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28920961; Phenotypes: HIST1H4C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4B | Achchuthan Shanmugasundram reviewed gene: HIST1H4B: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H2AC | Achchuthan Shanmugasundram reviewed gene: HIST1H2AC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HIST1H2AC-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H1E | Achchuthan Shanmugasundram reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475857, 31400068; Phenotypes: Rahman syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIRA | Achchuthan Shanmugasundram reviewed gene: HIRA: Rating: RED; Mode of pathogenicity: ; Publications: 33417013; Phenotypes: HIRA-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HINT1 | Achchuthan Shanmugasundram reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22961002; Phenotypes: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, OMIM:137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIBCH | Achchuthan Shanmugasundram reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7122152; Phenotypes: HIBCH DEFICIENCY, OMIM:250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HGSNAT | Achchuthan Shanmugasundram reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18518886, 16960811, 20825431, 17033958, 18024218; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3C, OMIM:252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXB | Achchuthan Shanmugasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888387, 8045559, 3014997, 571983, 2973515, 18758829, 1531140, 2921040, 7633435, 10724; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 2, OMIM:268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXA | Achchuthan Shanmugasundram reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140574, 14648242, 9401004, 2848800, 6959123, 1483696, 21937992, 2934978, 1532289, 9272736, 1301190, 8757036, 2522679, 1322637, 2976595, 1384323, 15108204, 1301958, 1827945, 2961848, 1833974, 1837283, 3362213, 9603435, 8490625, 2954459, 1825014, 1302612, 3754980; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 1, OMIM:272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HESX1 | Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HERC2 | Achchuthan Shanmugasundram reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32571899, 23243086, 30902390, 23065719; Phenotypes: HERC2-related neurodevelopmental disorder, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HERC1 | Achchuthan Shanmugasundram reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28323226, 27108999, 26153217, 26138117; Phenotypes: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HECW2 | Achchuthan Shanmugasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35753050, 34321324, 27334371, 27389779; Phenotypes: HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HDAC8 | Achchuthan Shanmugasundram reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29279609, 25102094, 29991052, 22885700, 29519750, 26671848, 24403048; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR, Cornelia de Lange Syndrome HDAC8 X-linked dominant; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HDAC4 | Achchuthan Shanmugasundram reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33537682, 20691407, 30848064; Phenotypes: BRACHYDACTYLY-INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:600430, HDAC4-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCN1 | Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCFC1 | Achchuthan Shanmugasundram reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23000143, 1870093, 24011988; Phenotypes: COBALAMIN DISORDER, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3, OMIM:309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCCS | Achchuthan Shanmugasundram reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HAX1 | Achchuthan Shanmugasundram reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18611981, 18337561, 19036076, 17187068; Phenotypes: NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, OMIM:610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HARS | Achchuthan Shanmugasundram reviewed gene: HARS: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: USHER SYNDROME, OMIM:614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HADHA | Achchuthan Shanmugasundram reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 7811722; Phenotypes: LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HADH | Achchuthan Shanmugasundram reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HACE1 | Achchuthan Shanmugasundram reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26424145; Phenotypes: HACE1 related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HACD1 | Achchuthan Shanmugasundram reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32426512, 33354762, 23933735; Phenotypes: HACD1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HAAO | Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 33942433, 28792876; Phenotypes: NAD deficiency disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | H3F3B | Achchuthan Shanmugasundram reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356; Phenotypes: H3F3B associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | H3F3A | Achchuthan Shanmugasundram reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356, 33057194, 31942419; Phenotypes: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GZF1 | Achchuthan Shanmugasundram reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475863; Phenotypes: JOINT LAXITY, SHORT STATURE, AND MYOPIA, OMIM:617662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUSB | Achchuthan Shanmugasundram reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7633414, 6811712, 12522561, 9490302, 1702266, 7573038, 1833732, 4265197; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 7, OMIM:253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUCY2C | Achchuthan Shanmugasundram reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 22436048; Phenotypes: FAMILIAL DIARRHEA DIARRHEA 6, OMIM:614616, MECONIUM ILEUS, OMIM:614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTPBP3 | Achchuthan Shanmugasundram reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTPBP2 | Achchuthan Shanmugasundram reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 30790272, 29449720; Phenotypes: JABERI-ELAHI SYNDROME, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2IRD1 | Achchuthan Shanmugasundram reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: Other; Publications: 36308390; Phenotypes: GTF2IRD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2H5 | Achchuthan Shanmugasundram reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY PHOTOSENSITIVE, OMIM:601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2E2 | Achchuthan Shanmugasundram reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26996949; Phenotypes: DNA Repair-Proficient Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GSPT2 | Achchuthan Shanmugasundram reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: XL INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM7 | Achchuthan Shanmugasundram reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 28097321, 27435318; Phenotypes: GRM7-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM6 | Achchuthan Shanmugasundram reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16249515, 15781871, 17405131; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, OMIM:257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM1 | Achchuthan Shanmugasundram reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901947; Phenotypes: CONGENITAL CEREBELLAR ATAXIA, OMIM:614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2D | Achchuthan Shanmugasundram reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483; Phenotypes: Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2B | Achchuthan Shanmugasundram reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24272827, 31085877, 23934111, 28377535, 23033978, 20890276, 23160955, 27605359, 23718928, 35393335, 30151416; Phenotypes: EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, OMIM:613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2A | Achchuthan Shanmugasundram reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35983985, 20890276, 23933818; Phenotypes: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:245570, Autosomal recessive GRIN2A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN1 | Achchuthan Shanmugasundram reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704, 34611970, 28051072, 23934111, 26350515, 35393335; Phenotypes: GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIK2 | Achchuthan Shanmugasundram reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17847003, 34375587; Phenotypes: GRIK2-related intellectual disability and hypomyelination, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 6, OMIM:611092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRID2 | Achchuthan Shanmugasundram reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31183084, 25841024, 24078737, 23611888, 28856174; Phenotypes: GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA4 | Achchuthan Shanmugasundram reviewed gene: GRIA4: Rating: RED; Mode of pathogenicity: Other; Publications: 29220673; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA3 | Achchuthan Shanmugasundram reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17989220; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 94, OMIM:300699; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA2 | Achchuthan Shanmugasundram reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GRIA2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA1 | Achchuthan Shanmugasundram reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35675825; Phenotypes: GRIA1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRHL3 | Achchuthan Shanmugasundram reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360809; Phenotypes: VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRHL2 | Achchuthan Shanmugasundram reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GREB1L | Achchuthan Shanmugasundram reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 29261186, 32378186, 32598191, 29220675, 29100090, 31424080, 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM:617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPX4 | Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OMIM:250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPSM2 | Achchuthan Shanmugasundram reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22578326; Phenotypes: CHUDLEY-MCCULLOUGH SYNDROME, OMIM:604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPHN | Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: ; Publications: 11095995, 22040219; Phenotypes: GPHN-related molybdenum cofactor deficiency, OMIM:615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC6 | Achchuthan Shanmugasundram reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481194; Phenotypes: OMODYSPLASIA TYPE 1 (OMOD1), OMIM:258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC4 | Achchuthan Shanmugasundram reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982611; Phenotypes: KEIPERT SYNDROME, OMIM:301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC3 | Achchuthan Shanmugasundram reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589713, 18203194, 9950367, 17850639, 16158429, 10814714; Phenotypes: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OMIM:312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPAA1 | Achchuthan Shanmugasundram reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia, OMIM:617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GOT2 | Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GORAB | Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18997784; Phenotypes: Geroderma osteodysplasticum, OMIM:231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GON4L | Achchuthan Shanmugasundram reviewed gene: GON4L: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GOLGA2 | Achchuthan Shanmugasundram reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26742501, 34424553; Phenotypes: GOLGA2-related myopathy, seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNS | Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPTG | Achchuthan Shanmugasundram reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10712439, 20034096, 19659762, 19370764, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C, OMIM:252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPTAB | Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 19197337, 16116615, 16465621, 16200072, 16094673, 15633164, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A, OMIM:252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPAT | Achchuthan Shanmugasundram reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9536089, 1405476, 9843043, 21990100; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2, OMIM:222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNE | Achchuthan Shanmugasundram reviewed gene: GNE: Rating: RED; Mode of pathogenicity: Other; Publications: 11486897, 35121750, 11326336, 10356312, 29923088, 27142465, 10330343, 32053088; Phenotypes: GNE-associated congenital myopathy, GNE-associated sialuria, OMIM:269921; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB5 | Achchuthan Shanmugasundram reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523599; Phenotypes: Sinus Bradycardia and Cognitive Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB3 | Achchuthan Shanmugasundram reviewed gene: GNB3: Rating: RED; Mode of pathogenicity: ; Publications: 27063057; Phenotypes: GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB2 | Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28219978, 33057194, 34183358, 31698099; Phenotypes: GNB2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB1 | Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30194818, 27108799; Phenotypes: Severe Neurodevelopmental Disability, Hypotonia, and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAS | Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAQ | Achchuthan Shanmugasundram reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAO1 | Achchuthan Shanmugasundram reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993195; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI3 | Achchuthan Shanmugasundram reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11102934; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI1 | Achchuthan Shanmugasundram reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33473207; Phenotypes: GNAI1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNA14 | Achchuthan Shanmugasundram reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476652; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNA11 | Achchuthan Shanmugasundram reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPB | Achchuthan Shanmugasundram reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPA | Achchuthan Shanmugasundram reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24035193, 35665995; Phenotypes: GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMNN | Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GM2A | Achchuthan Shanmugasundram reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10364519, 8900233, 1915858, 8244332; Phenotypes: GM2-GANGLIOSIDOSIS TYPE AB, OMIM:272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLUL | Achchuthan Shanmugasundram reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21353613, 16267323; Phenotypes: CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLUD1 | Achchuthan Shanmugasundram reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9571255, 11214910, 10636977; Phenotypes: HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OMIM:606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLRB | Achchuthan Shanmugasundram reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 32911248, 23182654, 23184146, 21391991, 23238346, 11929858, 33323420; Phenotypes: GLRB-related hyperexplexia, biallelic, OMIM:614619, GLRB-related hyperexplexia, monoallelic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLRA1 | Achchuthan Shanmugasundram reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 20631190, 9920650, 32319239, 30109271, 24970905, 28985719, 25036534, 32332682; Phenotypes: GLRA1-related hyperexplexia, biallelic, OMIM:149400, GLRA1-related hyperexplexia, monoallelic, OMIM:149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLMN | Achchuthan Shanmugasundram reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407, 11175297; Phenotypes: GLOMUVENOUS MALFORMATIONS, OMIM:138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLIS3 | Achchuthan Shanmugasundram reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966531; Phenotypes: DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM, OMIM:610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLIS2 | Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17618285; Phenotypes: NEPHRONOPHTHISIS 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLI3 | Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441570, 9054938, 10945658; Phenotypes: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OMIM:175700, PALLISTER-HALL SYNDROME, OMIM:146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLI2 | Achchuthan Shanmugasundram reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLI2-RELATED HOLOPROSENCEPHALY, OMIM:261768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLE1 | Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDN | Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDC | Achchuthan Shanmugasundram reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10873393, 15864413, 15851735, 15824356, 1634607, 9621520, 10798358, 11592811, 15236413, 9600239, 445864, 8005589; Phenotypes: GLDC-RELATED GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLB1 | Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1907800, 12644936, 1606711, 10841810, 1928092, 7586649, 1909089, 8199591, 8213816, 10737981, 8198123, 11511921; Phenotypes: GM1-GANGLIOSIDOSIS TYPE 3, OMIM:230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GK | Achchuthan Shanmugasundram reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCEROL KINASE DEFICIENCY, OMIM:307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJC2 | Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJB3 | Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA8 | Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA3 | Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA1 | Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GIGYF1 | Achchuthan Shanmugasundram reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: GIGYF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GHR | Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFM1 | Achchuthan Shanmugasundram reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, OMIM:609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFER | Achchuthan Shanmugasundram reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: 19409522; Phenotypes: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFAP | Achchuthan Shanmugasundram reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11138011, 12447932, 11567214, 12975300, 14557587, 12034796; Phenotypes: ALEXANDER DISEASE, OMIM:203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN5 | Achchuthan Shanmugasundram reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33963192; Phenotypes: GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDI1 | Achchuthan Shanmugasundram reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: ; Publications: 28863211, 22002931, 9620768, 21736009; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 41, OMIM:300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF6 | Achchuthan Shanmugasundram reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18425797, 21070663, 32737436, 25457163, 19129173; Phenotypes: GDF6 Oculo-Skeletal Syndrome, OMIM:118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF5 | Achchuthan Shanmugasundram reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222676, 11857750, 12124730, 16532400, 11846737, 10080184, 18283415, 16127465, 2703235, 12121354, 16892395, 9288098, 12900894, 18629880; Phenotypes: ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF3 | Achchuthan Shanmugasundram reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: Other; Publications: 19864492, 29260090; Phenotypes: GDF3 multiple malformations, OMIM:613702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF11 | Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF1 | Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCSH | Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: 36190515; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCH1 | Achchuthan Shanmugasundram reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12552057, 9667588, 7874165, 10208576, 17111153, 9576537, 7730309, 11359069, 10732814, 11486899, 10987649; Phenotypes: GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, DYSTONIA TYPE 5, OMIM:128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBE1 | Achchuthan Shanmugasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33897756, 32455116, 27546458, 30345254, 31747834, 32374048, 33782433, 30228975, 30311141, 30303820; Phenotypes: GBE1-associated Glycogen storage disease IV, OMIM:232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBA2 | Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332917; Phenotypes: AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBA | Achchuthan Shanmugasundram reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATM | Achchuthan Shanmugasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10762163; Phenotypes: ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY, OMIM:612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATAD2B | Achchuthan Shanmugasundram reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23644463, 31949314; Phenotypes: NONSPECIFIC SEVERE ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA6 | Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA4 | Achchuthan Shanmugasundram reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17643447, 18055909, 20659440, 12845333, 15810002, 20347099; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 2, OMIM:607941; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA3 | Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25510779, 15830275, 30396722, 29026277, 26268891, 23291697, 26316437, 21834031, 27387476, 19723756, 23203342, 29593425, 29073906, 29025137, 25771973, 21242646, 21157112, 21120445, 11389161, 23186964, 23052618, 16509533, 25124981, 31885872, 19952462, 26777049, 19248180, 24434941, 15705923, 26514990, 26800885, 28566604, 19253381, 30534854, 10935639, 21399899, 28303854, 17309062; Phenotypes: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA2 | Achchuthan Shanmugasundram reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21670465, 2543925, 21892158, 24227816, 22996659, 20803646, 21242295; Phenotypes: EMBERGER SYNDROME, OMIM:614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS8 | Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS2L2 | Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAN | Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062483, 29876741, 20949505, 30246730, 19231187, 30532362; Phenotypes: Giant axonal neuropathy 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAMT | Achchuthan Shanmugasundram reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8651275, 15651030, 17101918; Phenotypes: GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, OMIM:612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALT | Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012409, 1610789, 2233247, 1897530, 10439960, 2011574, 8869397, 9222760; Phenotypes: GALACTOSEMIA, OMIM:230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALNS | Achchuthan Shanmugasundram reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 4A, OMIM:253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALK1 | Achchuthan Shanmugasundram reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521295, 10790206, 7670469, 11231902; Phenotypes: GALACTOSEMIA II, OMIM:230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALE | Achchuthan Shanmugasundram reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326324, 9538513, 9973283; Phenotypes: EPIMERASE-DEFICIENCY GALACTOSEMIA, OMIM:230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALC | Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8297359, 20886637, 8786069, 21070211; Phenotypes: KRABBE DISEASE, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAD1 | Achchuthan Shanmugasundram reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: Other; Publications: 15571623; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRG2 | Achchuthan Shanmugasundram reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326274; Phenotypes: EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, OMIM:611277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRG1 | Achchuthan Shanmugasundram reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: Other; Publications: 36121006; Phenotypes: GABRG1-associated epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRB3 | Achchuthan Shanmugasundram reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18514161, 27476654, 23934111; Phenotypes: CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRB2 | Achchuthan Shanmugasundram reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRA1 | Achchuthan Shanmugasundram reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992121, 23934111; Phenotypes: EPILEPTIC ENCEPHALOPATHY, JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR2 | Achchuthan Shanmugasundram reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 29369404, 26740508, 25262651, 28856709; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR1 | Achchuthan Shanmugasundram reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36103875; Phenotypes: GABBR1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAA | Achchuthan Shanmugasundram reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529346, 7881425, 15668445, 7945303, 7881422, 3865697, 1652892, 17616415, 1898413, 8834250; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE II, OMIM:232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZR1 | Achchuthan Shanmugasundram reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31318984, 34788397; Phenotypes: FZR1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZD6 | Achchuthan Shanmugasundram reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665003; Phenotypes: NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10, OMIM:614157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZD5 | Achchuthan Shanmugasundram reviewed gene: FZD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26908622; Phenotypes: Autosomal Dominant Coloboma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FYCO1 | Achchuthan Shanmugasundram reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21636066, 11519376; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, OMIM:610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FXR1 | Achchuthan Shanmugasundram reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35393337, 30770808; Phenotypes: FXR1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUT8 | Achchuthan Shanmugasundram reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29304374; Phenotypes: Congenital Disorder of Glycosylation with Defective Fucosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30503518; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUCA1 | Achchuthan Shanmugasundram reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9762612, 2642067, 8401503, 2012122, 8097260, 1281988; Phenotypes: FUCOSIDOSIS, OMIM:230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTSJ1 | Achchuthan Shanmugasundram reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398246, 15162322, 8288232; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 44, OMIM:309549; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTO | Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTL | Achchuthan Shanmugasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11849230, 9414313, 9414300, 19176363, 7493028, 9226182, 7669675, 12200611, 9292547, 10759702; Phenotypes: HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, OMIM:600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTCD | Achchuthan Shanmugasundram reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, OMIM:229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRY | Achchuthan Shanmugasundram reviewed gene: FRY: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRRS1L | Achchuthan Shanmugasundram reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 27236917, 27239025; Phenotypes: Epileptic encephalopathy with continuous spike-and-wave during sleep; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMPD4 | Achchuthan Shanmugasundram reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: Intellectual Disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMD7 | Achchuthan Shanmugasundram reviewed gene: FRMD7: Rating: RED; Mode of pathogenicity: ; Publications: 17397053, 16240070, 17962394, 18087240, 19072571, 21746984, 17013395, 25678693; Phenotypes: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMD5 | Achchuthan Shanmugasundram reviewed gene: FRMD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36206744; Phenotypes: FRMD5-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FREM2 | Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FREM1 | Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11332973, 17352387; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME, OMIM:248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRAS1 | Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 12766769, 18671281, 17163535, 18203166, 16894541; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRA10AC1 | Achchuthan Shanmugasundram reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871492, 35821753, 34694367; Phenotypes: FRA10AC1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXRED1 | Achchuthan Shanmugasundram reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20818383, 11181577, 17262856, 15824269, 9463323, 19185523, 11349233, 10944442, 12616398, 20858599, 20382551, 15159508, 21203893, 10080174, 16200211, 22499348, 10330338, 9837812, 23553477; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP4 | Achchuthan Shanmugasundram reviewed gene: FOXP4: Rating: RED; Mode of pathogenicity: ; Publications: 33110267; Phenotypes: FOXP4-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP3 | Achchuthan Shanmugasundram reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14671208, 11120765, 17635943, 11137993, 11137992; Phenotypes: IPEX SYNDROME, OMIM:304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP2 | Achchuthan Shanmugasundram reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 2332125, 15877281; Phenotypes: SPEECH-LANGUAGE DISORDER 1, OMIM:602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP1 | Achchuthan Shanmugasundram reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24214399, 28884888, 30092897, 20950788, 28735298, 25853299, 29090079, 29330474; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES, OMIM:613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXN1 | Achchuthan Shanmugasundram reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8911612; Phenotypes: ALOPECIA AND T-CELL IMMUNODEFICIENCY, OMIM:601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXL2 | Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12400065, 12938087, 11175783, 17089161, 12630957, 11468277, 11776388, 12567411, 12529855, 21325395; Phenotypes: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME, OMIM:110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXJ1 | Achchuthan Shanmugasundram reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXI3 | Achchuthan Shanmugasundram reviewed gene: FOXI3: Rating: RED; Mode of pathogenicity: Other; Publications: 36260083; Phenotypes: FOXI3-related microtia and craniofacial microsomia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXG1 | Achchuthan Shanmugasundram reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18571142, 21441262, 19564653, 19578037; Phenotypes: CONGENITAL VARIANT OF RETT SYNDROME, OMIM:613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXF1 | Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE3 | Achchuthan Shanmugasundram reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29136273, 20361012, 20140963, 6801987, 22204637, 3550563, 11159941, 16826526; Phenotypes: CONGENITAL PRIMARY APHAKIA, OMIM:610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE1 | Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXC2 | Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474, 18197197, 15523639, 14269895, 11499682, 10417285, 12114478, 12485195, 11371511; Phenotypes: LYMPHEDEMA-DISTICHIASIS SYNDROME, OMIM:153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXC1 | Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792859, 18498376, 9326342, 11170889, 9620769, 17210863, 10713890, 19793056, 11007653; Phenotypes: AXENFELD-RIEGER SYNDROME TYPE 3, OMIM:602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOLR1 | Achchuthan Shanmugasundram reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19732866; Phenotypes: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, OMIM:613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FN1 | Achchuthan Shanmugasundram reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100092; Phenotypes: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FMR1 | Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM: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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FMN2 | Achchuthan Shanmugasundram reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480035; Phenotypes: NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLVCR2 | Achchuthan Shanmugasundram reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19635601, 20518025, 25677735, 20206334; Phenotypes: PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, OMIM:225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLVCR1 | Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21070897, 21267618, 9409377, 30656474; Phenotypes: ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLT4 | Achchuthan Shanmugasundram reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33067626, 10835628, 12960217, 16924388, 19289394, 16965327, 10856194; Phenotypes: CONGENITAL HEART DISEASE, MILROY DISEASE, OMIM:153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNB | Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLG | Achchuthan Shanmugasundram reviewed gene: FLG: Rating: RED; Mode of pathogenicity: ; Publications: 17291859, 16444271; Phenotypes: ICHTHYOSIS VULGARIS, OMIM:146700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLAD1 | Achchuthan Shanmugasundram reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259049; Phenotypes: Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKTN | Achchuthan Shanmugasundram reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17044012, 17878207, 19179078, 12601708, 9690476, 17036286, 10545611, 19342235, 14627679; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, OMIM:611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKRP | Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKBP14 | Achchuthan Shanmugasundram reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OMIM:614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKBP10 | Achchuthan Shanmugasundram reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20362275, 21567934, 35278031, 20839288; Phenotypes: BRUCK SYNDROME TYPE 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FIG4 | Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FHL1 | Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FH | Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR2 | Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR1 | Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Encephalocraniocutaneous lipomatosis, OMIM:613001, PFEIFFER SYNDROME, OMIM:101600, OSTEOGLOPHONIC DYSPLASIA, OMIM:166250, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF9 | Achchuthan Shanmugasundram reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19589401; Phenotypes: MULTIPLE SYNOSTOSES SYNDROME TYPE 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF3 | Achchuthan Shanmugasundram reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18435799, 21480479, 17236138, 18701883; Phenotypes: DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA, OMIM:610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF14 | Achchuthan Shanmugasundram reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607796, 25566820, 21600715; Phenotypes: FGF14-related episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF13 | Achchuthan Shanmugasundram reviewed gene: FGF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33245860; Phenotypes: FGF13-related neurodevelopmental disorder (X-linked dominant), FGF13-related neurodevelopmental disorder (hemizygous); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF12 | Achchuthan Shanmugasundram reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27164707, 27872899, 27830185; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF10 | Achchuthan Shanmugasundram reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501574, 16630169; Phenotypes: LADD SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGD1 | Achchuthan Shanmugasundram reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11093277, 14560308, 16688726, 20082460, 16353258, 7954831, 17152066, 17847065, 10930571, 15809997, 11940089; Phenotypes: AARSKOG-SCOTT SYNDROME, OMIM:305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FEZF1 | Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192046; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FEM1C | Achchuthan Shanmugasundram reviewed gene: FEM1C: Rating: RED; Mode of pathogenicity: Other; Publications: 36336956; Phenotypes: FEM1C-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FDFT1 | Achchuthan Shanmugasundram reviewed gene: FDFT1: Rating: RED; Mode of pathogenicity: ; Publications: 29909962; Phenotypes: Defect in Cholesterol Biosynthesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW7 | Achchuthan Shanmugasundram reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: FBXW7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW4 | Achchuthan Shanmugasundram reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW11 | Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31402090; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO28 | Achchuthan Shanmugasundram reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30160831, 33280099; Phenotypes: FBX028-related developmental and epileptic encephalopathy with profound intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO11 | Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27620904, 30057029, 30679813; Phenotypes: Variable Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXL4 | Achchuthan Shanmugasundram reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993194; Phenotypes: FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBP1 | Achchuthan Shanmugasundram reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7763253, 12126934; Phenotypes: FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY, OMIM:229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN2 | Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN1 | Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 9837823, 15032979, 17492313, 7762551, 23103230, 23897642, 21594992, 8136837, 7633409, 15287423, 12525539, 8504310, 20979188, 10766875, 16333834, 8281141, 23023332, 11702223, 17568394, 20082464, 27582083, 8101042, 8071963, 7911051, 8040326, 21594993, 10441597, 18412115, 8428751, 8406497, 8430317; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBLN1 | Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAT4 | Achchuthan Shanmugasundram reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, OMIM:616006, VAN MALDERGEM SYNDROME, OMIM:615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FASN | Achchuthan Shanmugasundram reviewed gene: FASN: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FARS2 | Achchuthan Shanmugasundram reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29326872, 27549011, 29126765, 28043061, 27095821; Phenotypes: Neurometabolic disorder due to FARS2 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAR1 | Achchuthan Shanmugasundram reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCM | Achchuthan Shanmugasundram reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCM-RELATED FANCONI ANEMIA, OMIM:287713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCL | Achchuthan Shanmugasundram reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCI | Achchuthan Shanmugasundram reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCG | Achchuthan Shanmugasundram reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15657175, 10807541, 9806548, 12552564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, OMIM:614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCF | Achchuthan Shanmugasundram reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26033879, 10615118, 9382107; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCE | Achchuthan Shanmugasundram reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 10205272, 9382107, 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, OMIM:600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCD2 | Achchuthan Shanmugasundram reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OMIM:227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCC | Achchuthan Shanmugasundram reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869034, 8348157, 10431244; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, OMIM:227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCB | Achchuthan Shanmugasundram reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16679491; Phenotypes: FANCB-RELATED FANCONI ANEMIA, OMIM:229139; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCA | Achchuthan Shanmugasundram reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447395, 11344308, 12827451, 10431244, 8896564, 15523645; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM58A | Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM20C | Achchuthan Shanmugasundram reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: ; Publications: 20825432, 17924334, 19250384; Phenotypes: RAINE SYNDROME, OMIM:259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM20A | Achchuthan Shanmugasundram reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549343; Phenotypes: AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME, OMIM:204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM161A | Achchuthan Shanmugasundram reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10507729, 26574802, 20705279, 20705278; Phenotypes: RETINITIS PIGMENTOSA 28, OMIM:606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM149B1 | Achchuthan Shanmugasundram reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Ciliopathy-related syndromic intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM126A | Achchuthan Shanmugasundram reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17928815, 16951682; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 5, OMIM:610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM111A | Achchuthan Shanmugasundram reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23684011; Phenotypes: KENNY-CAFFEY SYNDROME, OMIM:127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAH | Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7977370, 8829657, 7757089, 1401056, 8364576, 8162054, 11196105, 8318997; Phenotypes: TYROSINEMIA TYPE 1, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EZH2 | Achchuthan Shanmugasundram reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: WEAVER SYNDROME 2, OMIM:614421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EYA1 | Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9361030, 5365063, 16441263, 9020840, 10655545, 19206155; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXTL3 | Achchuthan Shanmugasundram reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132690; Phenotypes: Neuro immuno skeletal Dysplasia Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXT2 | Achchuthan Shanmugasundram reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317; Phenotypes: EXOSTOSES, MULTIPLE, TYPE 2, OMIM:133701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXT1 | Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXPH5 | Achchuthan Shanmugasundram reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176819; Phenotypes: INHERITED SKIN FRAGILITY, OMIM:615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC9 | Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC3 | Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC2 | Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EVC2 | Achchuthan Shanmugasundram reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16404586; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EVC | Achchuthan Shanmugasundram reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: 7628126, 21815252, 10700184, 14217223, 12468274, 7218275, 12571802; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETHE1 | Achchuthan Shanmugasundram reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18593870, 14732903, 20528888; Phenotypes: ETHYLMALONIC ENCEPHALOPATHY, OMIM:602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFDH | Achchuthan Shanmugasundram reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2C, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFB | Achchuthan Shanmugasundram reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2B, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFA | Achchuthan Shanmugasundram reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732, 7912128, 12815589, 1882842, 1430199, 19249206; Phenotypes: GLUTARIC ACIDURIA TYPE 2A, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ESCO2 | Achchuthan Shanmugasundram reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3740099, 15821733, 495649; Phenotypes: ROBERTS SYNDROME, OMIM:268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERMARD | Achchuthan Shanmugasundram reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: ; Publications: 24056535; Phenotypes: PERIVENTRICULAR HETEROTOPIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERLIN2 | Achchuthan Shanmugasundram reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERF | Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC8 | Achchuthan Shanmugasundram reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 14661080, 15744458, 7664335; Phenotypes: COCKAYNE SYNDROME TYPE A, OMIM:216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC6L2 | Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC6 | Achchuthan Shanmugasundram reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20456449, 9443879, 7264357, 10739753, 18628313, 18446857, 10196384; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC5 | Achchuthan Shanmugasundram reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11228268, 12060391, 7951246, 9096355, 23255472, 11841555, 11219864, 8818951; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G, OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC4 | Achchuthan Shanmugasundram reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 3372781, 23623389, 17183314, 23623386, 8797827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP Q, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC3 | Achchuthan Shanmugasundram reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 4811796, 8408834; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC2 | Achchuthan Shanmugasundram reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012405, 11709541, 15220921, 9101292, 7849702, 7920640, 9195225, 8571952, 11443545, 7585650, 9758621; Phenotypes: CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, OMIM:610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC1 | Achchuthan Shanmugasundram reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623389, 17273966; Phenotypes: CEREBROOCULOFACIOSKELETAL SYNDROME 4, OMIM:610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERBB3 | Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17701904; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598, Hirschprung disease with intestinal pseudo-obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPRS | Achchuthan Shanmugasundram reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576217; Phenotypes: Hypomyelinating Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPHB4 | Achchuthan Shanmugasundram reviewed gene: EPHB4: Rating: RED; Mode of pathogenicity: ; Publications: 28687708, 29444212; Phenotypes: Capillary malformation-arteriovenous malformation 2, OMIM:618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPG5 | Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPCAM | Achchuthan Shanmugasundram reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21315192, 24048167, 24142340, 18572020, 20034091, 26684320, 27875355, 19820410; Phenotypes: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPB41L1 | Achchuthan Shanmugasundram reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: Other; Publications: 21376300; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EP300 | Achchuthan Shanmugasundram reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353645, 17299436, 20014264, 15706485; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 2, OMIM:613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EOMES | Achchuthan Shanmugasundram reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: ; Publications: 17353897; Phenotypes: POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EOGT | Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 23522784; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ENTPD1 | Achchuthan Shanmugasundram reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ENPP1 | Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMX2 | Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FAMILIAL SCHIZENCEPHALY, EMX2-RELATED, OMIM:269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMG1 | Achchuthan Shanmugasundram reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26676230, 27798105, 19463982, 25708872; Phenotypes: Bowen-Conradi syndrome, OMIM:211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMC10 | Achchuthan Shanmugasundram reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 33531666; Phenotypes: EMC10-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMC1 | Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELP2 | Achchuthan Shanmugasundram reviewed gene: ELP2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELOVL4 | Achchuthan Shanmugasundram reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22100072; Phenotypes: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELN | Achchuthan Shanmugasundram reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: 8132745, 9215671, 8541862, 9215670, 21309044, 11735026, 10190324, 19844261, 11175284, 23442826, 10190538; Phenotypes: ELN-RELATED CUTIS LAXA, OMIM:314088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELMO2 | Achchuthan Shanmugasundram reviewed gene: ELMO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476657; Phenotypes: Intraosseous Vascular Malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELFN1 | Achchuthan Shanmugasundram reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 34509675; Phenotypes: ELFN1-related intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELAC2 | Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF5A | Achchuthan Shanmugasundram reviewed gene: EIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33547280; Phenotypes: EIF5A-related craniofacial-neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF4A3 | Achchuthan Shanmugasundram reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24360810; Phenotypes: RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF3F | Achchuthan Shanmugasundram reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: ; Publications: 30409806; Phenotypes: EIF3F related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2S3 | Achchuthan Shanmugasundram reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063529, 27333055; Phenotypes: Syndromic ID with severe microcephaly; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2B5 | Achchuthan Shanmugasundram reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28939701, 25457085, 25230711, 25089094, 25758335, 14572143, 15776425; Phenotypes: EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2B4 | Achchuthan Shanmugasundram reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30073106, 26043506, 25089094, 31385086, 18539998, 14572143; Phenotypes: EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK3 | Achchuthan Shanmugasundram reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7551159, 12960215, 16813601, 10932183; Phenotypes: WOLCOTT-RALLISON SYNDROME, OMIM:226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK2 | Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK1 | Achchuthan Shanmugasundram reviewed gene: EIF2AK1: Rating: RED; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK1-associated Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EHMT1 | Achchuthan Shanmugasundram reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27123477, 23232695, 16826528, 28361100, 19264732, 28498556; Phenotypes: Kleefstra syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EGR2 | Achchuthan Shanmugasundram reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, OMIM:605253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFTUD2 | Achchuthan Shanmugasundram reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27670155, 23879989, 28643921, 23188108, 25387991, 25735261, 31413053, 30343593, 22305528, 23239648, 26507355, 24470203; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY, OMIM:610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFNB1 | Achchuthan Shanmugasundram reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15124102, 15166289, 16685650; Phenotypes: CRANIOFRONTONASAL SYNDROME, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFEMP2 | Achchuthan Shanmugasundram reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29362193, 17937443, 30140196, 19664000, 28673110, 16685658, 22440127, 24276535, 23212998; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF2 | Achchuthan Shanmugasundram reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EEF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF1B2 | Achchuthan Shanmugasundram reviewed gene: EEF1B2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF1A2 | Achchuthan Shanmugasundram reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32196822, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EED | Achchuthan Shanmugasundram reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27868325, 27193220, 25787343, 28475857; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDNRB | Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7778600; Phenotypes: ABCD SYNDROME, OMIM:600501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDNRA | Achchuthan Shanmugasundram reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25772936; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OMIM:616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDN1 | Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDEM3 | Achchuthan Shanmugasundram reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34143952; Phenotypes: EDEM3-related congenital disorder of glycosylation, OMIM:619493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDAR | Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDA | Achchuthan Shanmugasundram reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683615, 17066260, 16583127, 19921643, 12949972, 17256800, 19264582, 8696334, 18657636, 9507389, 9856856; Phenotypes: TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1, OMIM:313500, ECTODERMAL DYSPLASIA TYPE 1, OMIM:305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECM1 | Achchuthan Shanmugasundram reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25529926, 25465029, 28434238; Phenotypes: LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECHS1 | Achchuthan Shanmugasundram reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25125611, 29575569, 26000322, 35856138, 25393721; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECEL1 | Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EBP | Achchuthan Shanmugasundram reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942423, 10391218, 11038443, 10391219, 12503101; Phenotypes: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED, OMIM:302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EBF3 | Achchuthan Shanmugasundram reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017372, 28017370, 28017373; Phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYRK1A | Achchuthan Shanmugasundram reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25641759, 28053047, 21294719, 31263215, 25707398, 25920557, 25944381, 23160955, 31803247, 26922654, 29034068, 23099646; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 7, OMIM:614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC2LI1 | Achchuthan Shanmugasundram reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26077881, 33030252, 26130459, 28857138; Phenotypes: DYNC2LI1-related short-rib polydactyly, OMIM:617088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC2H1 | Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19442771, 19361615; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC1I2 | Achchuthan Shanmugasundram reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES, OMIM:618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC1H1 | Achchuthan Shanmugasundram reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28193117, 27066557, 28554554, 27331017, 30122514, 22459677, 25609763, 25484024, 29306600, 24307404, 22368300; Phenotypes: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYM | Achchuthan Shanmugasundram reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: ; Publications: 16097008, 19005420, 12554689, 12491225; Phenotypes: DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA, OMIM:223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DVL3 | Achchuthan Shanmugasundram reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26924530; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DVL1 | Achchuthan Shanmugasundram reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25817016; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSPP | Achchuthan Shanmugasundram reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: ; Publications: 18456718, 11175779, 11175790, 14758537; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, OMIM:605594, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, OMIM:125490; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSP | Achchuthan Shanmugasundram reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DSP-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSG1 | Achchuthan Shanmugasundram reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23974871; Phenotypes: SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, OMIM:615508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSE | Achchuthan Shanmugasundram reviewed gene: DSE: Rating: RED; Mode of pathogenicity: Other; Publications: 23704329; Phenotypes: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DRC1 | Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPYSL5 | Achchuthan Shanmugasundram reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33894126; Phenotypes: DPYSL5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPM3 | Achchuthan Shanmugasundram reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 35932216; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O, OMIM:612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPM1 | Achchuthan Shanmugasundram reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10642597, 10642602; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPH5 | Achchuthan Shanmugasundram reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014; Phenotypes: DPH5-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPF2 | Achchuthan Shanmugasundram reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29429572, 35607970; Phenotypes: Coffin Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPAGT1 | Achchuthan Shanmugasundram reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22742743; Phenotypes: DPAGT1-CDG, OMIM:300129, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, OMIM:614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOLK | Achchuthan Shanmugasundram reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22242004, 17273964; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOHH | Achchuthan Shanmugasundram reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: DOHH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK8 | Achchuthan Shanmugasundram reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19776401; Phenotypes: HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE, OMIM:243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK7 | Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK6 | Achchuthan Shanmugasundram reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820096; Phenotypes: ADAMS-OLIVER SYNDROME 2, OMIM:614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3B | Achchuthan Shanmugasundram reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12239717, 10555141, 10647011; Phenotypes: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OMIM:242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3A | Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNM1L | Achchuthan Shanmugasundram reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26604000, 26992161, 30850373, 27328748, 30939602, 29877124, 31475481, 30801875, 31587467; Phenotypes: DNM1L-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNM1 | Achchuthan Shanmugasundram reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36413998, 34172529, 25262651; Phenotypes: DNM1-associated microcephaly, developmental and epileptic encephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJC12 | Achchuthan Shanmugasundram reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28132689; Phenotypes: Hyperphenylalaninemia, Dystonia, and Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB4 | Achchuthan Shanmugasundram reviewed gene: DNAJB4: Rating: RED; Mode of pathogenicity: ; Publications: 36264506; Phenotypes: DNAJB4-related myopathy with early respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB13 | Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH9 | Achchuthan Shanmugasundram reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: ; Publications: 30471718, 30471717; Phenotypes: Motile Cilia Defects and Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH5 | Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH14 | Achchuthan Shanmugasundram reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 35438214; Phenotypes: DNAH14-related Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF5 | Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF4 | Achchuthan Shanmugasundram reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23872636; Phenotypes: PRIMARY CILIARY DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF3 | Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNA2 | Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMPK | Achchuthan Shanmugasundram reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMP1 | Achchuthan Shanmugasundram reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033621, 17033625; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AR, OMIM:241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMD | Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLX5 | Achchuthan Shanmugasundram reviewed gene: DLX5: Rating: RED; Mode of pathogenicity: Other; Publications: 22121204; Phenotypes: SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL4 | Achchuthan Shanmugasundram reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: ADAMS-OLIVER SYNDROME 6, OMIM:616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL3 | Achchuthan Shanmugasundram reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12791036, 2805381, 10742114; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 1, OMIM:277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL1 | Achchuthan Shanmugasundram reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG5 | Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: RED; Mode of pathogenicity: ; Publications: 32631816; Phenotypes: DLG5-associated developmental disorder (biallelic), DLG5-associated developmental disorder (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG4 | Achchuthan Shanmugasundram reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843; Phenotypes: DLG4 related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG3 | Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLD | Achchuthan Shanmugasundram reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: 23290025, 8968745; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLAT | Achchuthan Shanmugasundram reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16049940; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, OMIM:245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DKC1 | Achchuthan Shanmugasundram reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DKC1-RELATED DYSKERATOSIS CONGENITA, OMIM:314912; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DISP1 | Achchuthan Shanmugasundram reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DIS3L2 | Achchuthan Shanmugasundram reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 6093533, 10508986, 22306653; Phenotypes: PERLMAN SYNDROME, OMIM:267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DIP2B | Achchuthan Shanmugasundram reviewed gene: DIP2B: Rating: RED; Mode of pathogenicity: Other; Publications: 17236128; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX37 | Achchuthan Shanmugasundram reviewed gene: DHX37: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX34 | Achchuthan Shanmugasundram reviewed gene: DHX34: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX30 | Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100085; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX16 | Achchuthan Shanmugasundram reviewed gene: DHX16: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHTKD1 | Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23141293; Phenotypes: 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA, OMIM:204750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHRS3 | Achchuthan Shanmugasundram reviewed gene: DHRS3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DHRS3 related craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHPS | Achchuthan Shanmugasundram reviewed gene: DHPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30661771; Phenotypes: Neurodevelopmental Disorder of Hypusination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHODH | Achchuthan Shanmugasundram reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: ; Publications: 19915526; Phenotypes: POSTAXIAL ACROFACIAL DYSOSTOSIS, OMIM:263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHFR | Achchuthan Shanmugasundram reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21310277, 21310276; Phenotypes: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHDDS | Achchuthan Shanmugasundram reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHCR7 | Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635399, 10677299, 11175299, 16044199, 15952211, 12949967, 9653161, 12794707, 11857552, 10814720, 26969503, 9634533, 9714007, 9683613; Phenotypes: SMITH-LEMLI-OPITZ SYNDROME, OMIM:270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHCR24 | Achchuthan Shanmugasundram reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DESMOSTEROLOSIS, OMIM:602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DGAT1 | Achchuthan Shanmugasundram reviewed gene: DGAT1: Rating: RED; Mode of pathogenicity: ; Publications: 23114594; Phenotypes: CONGENITAL DIARRHEAL DISORDERS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEPDC5 | Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10577924, 23542701, 14510823, 9851433, 15329069, 10825362; Phenotypes: FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI, OMIM:604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DENND5A | Achchuthan Shanmugasundram reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27866705; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEGS1 | Achchuthan Shanmugasundram reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30620337, 31186544; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 18, OMIM:618404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEAF1 | Achchuthan Shanmugasundram reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982, 24726472, 26834045, 21076407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, Autism, intellectual disability, basal ganglia dysfunction and epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX6 | Achchuthan Shanmugasundram reviewed gene: DDX6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422817; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX59 | Achchuthan Shanmugasundram reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23972372; Phenotypes: OROFACIODIGITAL SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX58 | Achchuthan Shanmugasundram reviewed gene: DDX58: Rating: RED; Mode of pathogenicity: Other; Publications: 25620203; Phenotypes: SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX54 | Achchuthan Shanmugasundram reviewed gene: DDX54: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25533962, 30734472, 28371085, 30349862, 29490693, 26235985; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 102, OMIM:300958, INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX23 | Achchuthan Shanmugasundram reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DDX23-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX11 | Achchuthan Shanmugasundram reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137776, 23033317; Phenotypes: WARSAW BREAKAGE SYNDROME, OMIM:613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDR2 | Achchuthan Shanmugasundram reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19110212, 8434618; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDOST | Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305527; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD2 | Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD1 | Achchuthan Shanmugasundram reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821, 15786464; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDC | Achchuthan Shanmugasundram reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20505134; Phenotypes: AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY, OMIM:608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDB2 | Achchuthan Shanmugasundram reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10469312, 8798680, 12812979; Phenotypes: XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, OMIM:278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDB1 | Achchuthan Shanmugasundram reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33743206; Phenotypes: DDB1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCX | Achchuthan Shanmugasundram reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441340, 9489700, 9489699, 12552055, 11468322; Phenotypes: SUBCORTICAL BAND HETEROTOPIA X-LINKED, OMIM:300067, LISSENCEPHALY X-LINKED TYPE 1, OMIM:300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCHS1 | Achchuthan Shanmugasundram reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: PERIVENTRICULAR NEURONAL HETEROTOPIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCDC2 | Achchuthan Shanmugasundram reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557784; Phenotypes: RENAL-HEPATIC CILIOPATHY, OMIM:616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCAF17 | Achchuthan Shanmugasundram reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WOODHOUSE-SAKATI SYNDROME, OMIM:241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DBT | Achchuthan Shanmugasundram reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DAW1 | Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124; Phenotypes: DAW1-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS2 | Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS | Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DAG1 | Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21388311; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | D2HGDH | Achchuthan Shanmugasundram reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 15609246; Phenotypes: D-2-HYDROXYGLUTARIC ACIDURIA 1, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP2U1 | Achchuthan Shanmugasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP27A1 | Achchuthan Shanmugasundram reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2019602, 16278884; Phenotypes: Cerebrotendinous xanthomatosis, OMIM:213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP24A1 | Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 27394135; Phenotypes: Hereditary 1,25-dihydroxyvitamin D-resistant rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP1B1 | Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYFIP2 | Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYC1 | Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYB5R3 | Achchuthan Shanmugasundram reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE, OMIM:250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CWC27 | Achchuthan Shanmugasundram reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718996, 28285769; Phenotypes: Retinitis pigmentosa, skeletal anomalies and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX2 | Achchuthan Shanmugasundram reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29630738; Phenotypes: Developmental epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX1 | Achchuthan Shanmugasundram reviewed gene: CUX1: Rating: RED; Mode of pathogenicity: ; Publications: 30014507; Phenotypes: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL7 | Achchuthan Shanmugasundram reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19225462, 17675530, 16142236; Phenotypes: 3-M SYNDROME 1, OMIM:273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL4B | Achchuthan Shanmugasundram reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236139; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CABEZAS TYPE, OMIM:300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL3 | Achchuthan Shanmugasundram reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32341456, 31696658, 33097317, 27824329; Phenotypes: CUL3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTU2 | Achchuthan Shanmugasundram reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31301155; Phenotypes: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSK | Achchuthan Shanmugasundram reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 10491211, 10878663, 8703060; Phenotypes: PYCNODYSOSTOSIS, OMIM:265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSD | Achchuthan Shanmugasundram reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: 16685649, 16670177; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, OMIM:610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSA | Achchuthan Shanmugasundram reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968752, 9603439, 10944848, 1756715, 8514852; Phenotypes: GALACTOSIALIDOSIS, OMIM:256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNS | Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10673275, 11565547, 10625078, 9792862, 12442267, 11505338, 10556299, 9537412, 10444339, 19863563; Phenotypes: CYSTINOSIS NEPHROPATHIC TYPE, OMIM:219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNND2 | Achchuthan Shanmugasundram reviewed gene: CTNND2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25807484, 25839933; Phenotypes: CTNND2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNND1 | Achchuthan Shanmugasundram reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32196547, 29348693, 28301459; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNNB1 | Achchuthan Shanmugasundram reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35880249, 30929091, 28514307, 24614104, 27915094, 26968164, 25326669; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 19, OMIM:615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNNA2 | Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Disordered cortical neuronal migration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTDP1 | Achchuthan Shanmugasundram reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14517542; Phenotypes: CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTCF | Achchuthan Shanmugasundram reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746550; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTC1 | Achchuthan Shanmugasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22267198, 22387016; Phenotypes: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, OMIM:612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTBP1 | Achchuthan Shanmugasundram reviewed gene: CTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CTBP1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSTB | Achchuthan Shanmugasundram reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012407, 8596935, 9342192, 15329070; Phenotypes: UNVERRICHT-LUNDBORG DISEASE, OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSTA | Achchuthan Shanmugasundram reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21944047; Phenotypes: EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE, OMIM:607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSPP1 | Achchuthan Shanmugasundram reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360808; Phenotypes: JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK2B | Achchuthan Shanmugasundram reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CSNK2B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK2A1 | Achchuthan Shanmugasundram reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CSNK2A1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK1G1 | Achchuthan Shanmugasundram reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: Other; Publications: 24463883; Phenotypes: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSF1R | Achchuthan Shanmugasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982609, 30982608; Phenotypes: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS, OMIM:618476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSDE1 | Achchuthan Shanmugasundram reviewed gene: CSDE1: Rating: RED; Mode of pathogenicity: ; Publications: 33867523, 31579823; Phenotypes: CSDE1-associated intellectual disability and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGD | Achchuthan Shanmugasundram reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: ; Publications: 9927684, 17564961, 12011157, 10915766, 10521291; Phenotypes: Cataract 2, multiple types, OMIM:115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGC | Achchuthan Shanmugasundram reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521291, 10914683, 12011157; Phenotypes: Cataract 2, multiple types, OMIM:604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB3 | Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB2 | Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB1 | Achchuthan Shanmugasundram reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17460281, 12360425; Phenotypes: CATARACT 17, MULTIPLE TYPES, OMIM:611544, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA4 | Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA1 | Achchuthan Shanmugasundram reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14598164; Phenotypes: CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES, OMIM:600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAB | Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAA | Achchuthan Shanmugasundram reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11006246, 19182255; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, OMIM:604219, CATARACT, NUCLEAR, OMIM:123580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRX | Achchuthan Shanmugasundram reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792858, 9390563, 15531334, 17320181, 25270190, 9537410, 9427255, 9931337, 12208271; Phenotypes: CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7, OMIM:613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRLS1 | Achchuthan Shanmugasundram reviewed gene: CRLS1: Rating: RED; Mode of pathogenicity: Other; Publications: 35147173; Phenotypes: CRLS1-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRKL | Achchuthan Shanmugasundram reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Bladder exstrophy plus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRIPT | Achchuthan Shanmugasundram reviewed gene: CRIPT: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRIM1 | Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: RED; Mode of pathogenicity: ; Publications: 25561690; Phenotypes: Colobomatous macrophthalmia with microcornea syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRELD1 | Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CREBBP | Achchuthan Shanmugasundram reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12114483, 12566391, 30737887, 20684013, 29460469, 27311832, 7630403, 11331617; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 1, OMIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRBN | Achchuthan Shanmugasundram reviewed gene: CRBN: Rating: RED; Mode of pathogenicity: ; Publications: 18414909; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 2A, OMIM:607417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRB2 | Achchuthan Shanmugasundram reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557780; Phenotypes: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OMIM:219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRB1 | Achchuthan Shanmugasundram reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16543197, 19140180, 11231775, 11389483, 10508521; Phenotypes: CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa, OMIM:613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRADD | Achchuthan Shanmugasundram reviewed gene: CRADD: Rating: RED; Mode of pathogenicity: Other; Publications: 27773430, 22279524; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPSF3 | Achchuthan Shanmugasundram reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35121750; Phenotypes: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPS1 | Achchuthan Shanmugasundram reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9711878, 19793055, 11474210, 8486760, 17310273; Phenotypes: CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, OMIM:237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPAMD8 | Achchuthan Shanmugasundram reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: Anterior Segment Dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX6B1 | Achchuthan Shanmugasundram reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX16 | Achchuthan Shanmugasundram reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: 33169484; Phenotypes: COX16-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX15 | Achchuthan Shanmugasundram reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COX15-related Leigh Syndrome, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX14 | Achchuthan Shanmugasundram reviewed gene: COX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX10 | Achchuthan Shanmugasundram reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15455402, 10767350, 12928484; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ9 | Achchuthan Shanmugasundram reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19375058; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ8A | Achchuthan Shanmugasundram reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ5 | Achchuthan Shanmugasundram reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ4 | Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ2 | Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB2 | Achchuthan Shanmugasundram reviewed gene: COPB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: COPB2-associated developmental delay and microcephaly, OMIM:617800, COPB2-related developmental delay and osteopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB1 | Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COMP | Achchuthan Shanmugasundram reviewed gene: COMP: Rating: RED; Mode of pathogenicity: Other; Publications: 9021009, 9463320, 12483304, 7670472, 9887340; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COLEC11 | Achchuthan Shanmugasundram reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 2569826, 21258343, 8933348; Phenotypes: 3MC SYNDROME 2, OMIM:265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COLEC10 | Achchuthan Shanmugasundram reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28301481, 35943032; Phenotypes: 3MC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A3 | Achchuthan Shanmugasundram reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10090888, 10655510, 30450842, 24273071, 15551337, 31090205; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969, Stickler syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A2 | Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8528240, 21671392, 10364514, 31090205, 12244547; Phenotypes: STICKLER SYNDROME, TYPE V, OMIM:614284, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, OMIM:600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A1 | Achchuthan Shanmugasundram reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909383, 11565064; Phenotypes: STICKLER SYNDROME TYPE 4, OMIM:614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6, OMIM:614135; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A3 | Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A2 | Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A1 | Achchuthan Shanmugasundram reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: COL6A1 associated myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A4 | Achchuthan Shanmugasundram reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 7987396, 9269635; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A3BP | Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A3 | Achchuthan Shanmugasundram reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792860, 7633417, 7987301, 11134255, 9269635, 7987396; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A2 | Achchuthan Shanmugasundram reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 2, OMIM:614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A1 | Achchuthan Shanmugasundram reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 1, OMIM:175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL2A1 | Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL27A1 | Achchuthan Shanmugasundram reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28322503, 28276056, 31903681, 24986830; Phenotypes: Steel Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL25A1 | Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL1A1 | Achchuthan Shanmugasundram reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8097422, 12538651, 2339700, 8950680, 15728585, 8364588, 1864604, 15024692, 2037280, 7816518, 2794057, 1770532, 3403550, 8910493, 1737847, 3108247, 3082886, 2913053, 9295084, 1988452, 8100209, 8723681, 7881420, 2500431, 8757037, 2309707, 2511192, 1874719, 9067755, 34272483, 8456809, 15864348, 8786074, 3667599, 1634225, 7789952, 11286507, 21834035, 18409203, 2298750, 2295701, 1613761, 8408653; Phenotypes: COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200, CAFFEY DISEASE, OMIM:114000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL18A1 | Achchuthan Shanmugasundram reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19390655, 10942434, 27259167, 12415512, 25456301, 28602933; Phenotypes: KNOBLOCH SYNDROME TYPE I, OMIM:267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL13A1 | Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26626625; Phenotypes: Congenital Myasthenic Syndrome Type 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL11A2 | Achchuthan Shanmugasundram reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16033917, 10581026, 16189708, 15558753, 16637051, 7833911, 15372529, 10677296, 7859284, 9506662, 14234962; Phenotypes: STICKLER SYNDROME TYPE 3, OMIM:184840, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL11A1 | Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10573014, 17236192, 27081569, 25091507, 25073711, 8872475, 21035103, 9529347, 10486316, 22499343; Phenotypes: FIBROCHONDROGENESIS, OMIM:228520, STICKLER SYNDROME, TYPE II, OMIM:604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL10A1 | Achchuthan Shanmugasundram reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7607655, 17403716, 9852679, 8554571, 8012364, 9525992, 9468540, 8304336, 8986632, 9067753, 10991694, 8004099, 12554676, 7749409; Phenotypes: SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA, OMIM:156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG8 | Achchuthan Shanmugasundram reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG8-CDG, OMIM:300204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG7 | Achchuthan Shanmugasundram reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG7-CDG, OMIM:300171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG5 | Achchuthan Shanmugasundram reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG5-CDG, OMIM:319494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG4 | Achchuthan Shanmugasundram reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290151; Phenotypes: Saul Wilson Syndrome, OMIM:618150, COG4-CDG, OMIM:319493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG1 | Achchuthan Shanmugasundram reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG1-CDG, OMIM:300197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COASY | Achchuthan Shanmugasundram reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: 35499143, 24360804; Phenotypes: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COA5 | Achchuthan Shanmugasundram reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNTNAP2 | Achchuthan Shanmugasundram reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11568923, 19896112, 16571880; Phenotypes: CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME, OMIM:610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNTNAP1 | Achchuthan Shanmugasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24319099; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OMIM:616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNPY3 | Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNOT3 | Achchuthan Shanmugasundram reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CNOT3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNOT1 | Achchuthan Shanmugasundram reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31006513, 32553196, 31006510; Phenotypes: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500, CNOT1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNNM2 | Achchuthan Shanmugasundram reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397062, 30026055, 24699222; Phenotypes: CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNKSR2 | Achchuthan Shanmugasundram reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381, 22511892; Phenotypes: INTELLECTUAL DISABILITY WITH EPILEPSY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNKSR1 | Achchuthan Shanmugasundram reviewed gene: CNKSR1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLTC | Achchuthan Shanmugasundram reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26822784, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPP | Achchuthan Shanmugasundram reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541340; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPB | Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 25597510, 28687938; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, OMIM:616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLP1 | Achchuthan Shanmugasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24766809; Phenotypes: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN8 | Achchuthan Shanmugasundram reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16570191, 19431184, 10508524; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 8, OMIM:600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN6 | Achchuthan Shanmugasundram reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11727201, 15996215, 11791207; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN5 | Achchuthan Shanmugasundram reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9662406, 18684116, 15728307, 20157158; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 5, OMIM:256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN3 | Achchuthan Shanmugasundram reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19489875, 7887420, 9450775, 7553855; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 3, OMIM:204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLMP | Achchuthan Shanmugasundram reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: CONGENITAL SHORT BOWEL SYNDROME, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLIC2 | Achchuthan Shanmugasundram reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: Other; Publications: 22814392; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN5 | Achchuthan Shanmugasundram reviewed gene: CLDN5: Rating: RED; Mode of pathogenicity: Other; Publications: 35714222; Phenotypes: CLDN5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN19 | Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKB | Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044642, 18310267; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKA | Achchuthan Shanmugasundram reviewed gene: CLCNKA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN7 | Achchuthan Shanmugasundram reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033731, 11741829, 11207362; Phenotypes: CLCN7-RELATED OSTEOPETROSIS, OMIM:611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN6 | Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217309, 28074849, 29667327; Phenotypes: CLCN6-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN4 | Achchuthan Shanmugasundram reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381, 27550844, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN3 | Achchuthan Shanmugasundram reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34186028; Phenotypes: CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512, CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CKAP2L | Achchuthan Shanmugasundram reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIT | Achchuthan Shanmugasundram reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27453578; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CISD2 | Achchuthan Shanmugasundram reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28335035, 25056293, 17846994, 10739754; Phenotypes: WOLFRAM SYNDROME TYPE 2, OMIM:604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIC | Achchuthan Shanmugasundram reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35165976, 28288114, 21076407; Phenotypes: CIC-related neurodevelopmental disorder, OMIM:612082; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIB2 | Achchuthan Shanmugasundram reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023331, 18505454; Phenotypes: USHER SYNDROME TYPE 1J, OMIM:614869, NONSYNDROMIC DEAFNESS DFNB48, OMIM:609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHUK | Achchuthan Shanmugasundram reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: ; Publications: 20961246; Phenotypes: COCOON SYNDROME, OMIM:613630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHSY1 | Achchuthan Shanmugasundram reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129727, 19952732, 21129728, 9823490; Phenotypes: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, OMIM:605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST3 | Achchuthan Shanmugasundram reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19320654, 20830804, 112567, 15098240, 18513679, 18698629; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OMIM:143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST14 | Achchuthan Shanmugasundram reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20533528, 20004762; Phenotypes: EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE, OMIM:601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNG | Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB2 | Achchuthan Shanmugasundram reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062464; Phenotypes: CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB1 | Achchuthan Shanmugasundram reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8872460, 10562302, 33296147, 27375219, 8651643; Phenotypes: CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314, CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA4 | Achchuthan Shanmugasundram reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7647781; Phenotypes: NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1, OMIM:600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA3 | Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA2 | Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: RED; Mode of pathogenicity: Other; Publications: 25770198, 25847220, 16826524, 30809122; Phenotypes: CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA1 | Achchuthan Shanmugasundram reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE, OMIM:253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRM1 | Achchuthan Shanmugasundram reviewed gene: CHRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 34212451; Phenotypes: CHRM1-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRDL1 | Achchuthan Shanmugasundram reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829, 26020825, 25712132; Phenotypes: MEGALOCORNEA, X-LINKED, OMIM:309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHMP1A | Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHM | Achchuthan Shanmugasundram reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21905166, 1302003, 28271586, 27070432, 7981670, 27820636, 12827496, 8477262, 1598901; Phenotypes: CHOROIDEREMIA, OMIM:303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHKA | Achchuthan Shanmugasundram reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: 35202461; Phenotypes: CHKA-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD8 | Achchuthan Shanmugasundram reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23160955; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD7 | Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 16400610, 17661815, 18978652, 17334995, 26590800, 17937444, 15300250, 18074359; Phenotypes: CHARGE SYNDROME, OMIM:214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD5 | Achchuthan Shanmugasundram reviewed gene: CHD5: Rating: RED; Mode of pathogenicity: ; Publications: 33944996; Phenotypes: CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD4 | Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616479, 27479907; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD3 | Achchuthan Shanmugasundram reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30397230; Phenotypes: Macrocephaly and impaired speech and language; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD2 | Achchuthan Shanmugasundram reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708187; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD1 | Achchuthan Shanmugasundram reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28866611; Phenotypes: CHD1-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHAMP1 | Achchuthan Shanmugasundram reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27148580, 26340335, 26751395, 35271727, 36106092; Phenotypes: CHAMP1-related neurodevelopmental disorder, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFL2 | Achchuthan Shanmugasundram reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160903; Phenotypes: NEMALINE MYOPATHY 7, OMIM:610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFC1 | Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP85L | Achchuthan Shanmugasundram reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: CEP85L-associated posterior-predominant lissencephaly, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP83 | Achchuthan Shanmugasundram reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: 24882706; Phenotypes: INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP63 | Achchuthan Shanmugasundram reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 21983783; Phenotypes: SECKEL SYNDROME 6, OMIM:614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP57 | Achchuthan Shanmugasundram reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 21552266, 12116237; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, OMIM:614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP41 | Achchuthan Shanmugasundram reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: JOUBERT SYNDROME 15, OMIM:614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP290 | Achchuthan Shanmugasundram reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 17705300, 16682970, 17554762, 22355252, 17564967, 17564974, 18327255, 16682973, 20690115, 16909394; Phenotypes: JOUBERT SYNDROME TYPE 5, OMIM:610188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP152 | Achchuthan Shanmugasundram reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131973; Phenotypes: CEP152-related Developmental Disorder, OMIM:604321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP135 | Achchuthan Shanmugasundram reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521416; Phenotypes: PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION, OMIM:614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP104 | Achchuthan Shanmugasundram reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: ; Publications: 26477546; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CENPJ | Achchuthan Shanmugasundram reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: ; Publications: 20522431, 20978018, 16900296, 12843329, 15793586; Phenotypes: CENPJ-related developmental disorder, OMIM:613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CENPF | Achchuthan Shanmugasundram reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27300082, 26820108, 28407396; Phenotypes: Stromme syndrome, OMIM:243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CELF2 | Achchuthan Shanmugasundram reviewed gene: CELF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131106; Phenotypes: CELF2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDT1 | Achchuthan Shanmugasundram reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358632, 11992493; Phenotypes: MEIER-GORLIN SYNDROME 4, OMIM:613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDON | Achchuthan Shanmugasundram reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21802063; Phenotypes: HOLOPROSENCEPHALY 11, OMIM:614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDKN1C | Achchuthan Shanmugasundram reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 9341892, 8841187, 14997421, 24624461, 20503313, 22634751, 28508599; Phenotypes: IMAGe Syndrome, OMIM:614732, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDKL5 | Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK8 | Achchuthan Shanmugasundram reviewed gene: CDK8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905399; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK5RAP2 | Achchuthan Shanmugasundram reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32015000; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK19 | Achchuthan Shanmugasundram reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32330417; Phenotypes: CDK19-associated Intellectual Disability and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK16 | Achchuthan Shanmugasundram reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 36323681; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK13 | Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK10 | Achchuthan Shanmugasundram reviewed gene: CDK10: Rating: RED; Mode of pathogenicity: ; Publications: 28886341, 29130579; Phenotypes: Severe Growth Retardation, Spine Malformations, and Developmental Delays; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH3 | Achchuthan Shanmugasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15805154, 11544476, 22140374, 12445216; Phenotypes: EEM SYNDROME, OMIM:225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH23 | Achchuthan Shanmugasundram reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17850630, 12075507, 11138009, 15829536, 11090341, 15537665; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 12, OMIM:601386, USHER SYNDROME TYPE 1D, OMIM:601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH2 | Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH15 | Achchuthan Shanmugasundram reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: ; Publications: 26506440, 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 3, OMIM:612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH11 | Achchuthan Shanmugasundram reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194892, 28988429, 29271567, 34278706; Phenotypes: CDH11-related, OMIM:211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH1 | Achchuthan Shanmugasundram reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29348693; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC6 | Achchuthan Shanmugasundram reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 5, OMIM:613805; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC45 | Achchuthan Shanmugasundram reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374770; Phenotypes: Meier-Gorlin Syndrome and Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42BPB | Achchuthan Shanmugasundram reviewed gene: CDC42BPB: Rating: RED; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: CDC42BPB-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42 | Achchuthan Shanmugasundram reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26708094, 29394990, 26386261; Phenotypes: CDC42-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC40 | Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CD96 | Achchuthan Shanmugasundram reviewed gene: CD96: Rating: RED; Mode of pathogenicity: ; Publications: 17847009; Phenotypes: C SYNDROME, OMIM:211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CD151 | Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: ; Publications: 15265795; Phenotypes: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNO | Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNK | Achchuthan Shanmugasundram reviewed gene: CCNK: Rating: RED; Mode of pathogenicity: ; Publications: 30122539; Phenotypes: Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCND2 | Achchuthan Shanmugasundram reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705253; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNA2 | Achchuthan Shanmugasundram reviewed gene: CCNA2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC88C | Achchuthan Shanmugasundram reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23042809; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, OMIM:236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC88A | Achchuthan Shanmugasundram reviewed gene: CCDC88A: Rating: RED; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: PEHO-like syndrome, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC8 | Achchuthan Shanmugasundram reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: THREE M SYNDROME 3, OMIM:614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC78 | Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC65 | Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC47 | Achchuthan Shanmugasundram reviewed gene: CCDC47: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401460; Phenotypes: Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC40 | Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC39 | Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC32 | Achchuthan Shanmugasundram reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451546, 32307552; Phenotypes: CCDC32-associated neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC22 | Achchuthan Shanmugasundram reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC X-LINKED INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC151 | Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC115 | Achchuthan Shanmugasundram reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833332; Phenotypes: Disorder of Golgi homeostasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC114 | Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC103 | Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCBE1 | Achchuthan Shanmugasundram reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME, OMIM:235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CC2D2A | Achchuthan Shanmugasundram reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 18950740, 18387594, 23351400, 20671153, 19777577, 2929661, 19574260, 8862632, 22246503; Phenotypes: JOUBERT SYNDROME 9, OMIM:612285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CC2D1A | Achchuthan Shanmugasundram reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16033914; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 3, OMIM:608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CBS | Achchuthan Shanmugasundram reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8353501, 8528202, 1301198, 10780316, 9361025, 7506602, 8990018, 14635102, 16479318, 10338090, 8755636; Phenotypes: CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, OMIM:236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CBL | Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20694012, 20543203, 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA, OMIM:613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAV1 | Achchuthan Shanmugasundram reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3, OMIM:612526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CASP2 | Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CASK | Achchuthan Shanmugasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 19200522, 19165920, 21954287, 19377476, 20029458; Phenotypes: MRX WITH/WITHOUT NYSTAGMUS, OMIM:300749, FG SYNDROME TYPE 4, OMIM:300422, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED, OMIM:300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS2 | Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS | Achchuthan Shanmugasundram reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30824121; Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nails; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAPRIN1 | Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23849776, 35979925; Phenotypes: CAPRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAPN10 | Achchuthan Shanmugasundram reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CANT1 | Achchuthan Shanmugasundram reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19853239; Phenotypes: Desbuquois dysplasia 1, OMIM:251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMTA1 | Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMSAP1 | Achchuthan Shanmugasundram reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36283405; Phenotypes: CAMSAP1-associated neuronal migration disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2G | Achchuthan Shanmugasundram reviewed gene: CAMK2G: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30184290; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2B | Achchuthan Shanmugasundram reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2A | Achchuthan Shanmugasundram reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAD | Achchuthan Shanmugasundram reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: 25678555, 28007989; Phenotypes: Uridine-responsive epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNB4 | Achchuthan Shanmugasundram reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA2D1 | Achchuthan Shanmugasundram reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: Other; Publications: 35293990; Phenotypes: CACNA2D1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1H | Achchuthan Shanmugasundram reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1G | Achchuthan Shanmugasundram reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, CACNA1G-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1E | Achchuthan Shanmugasundram reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30343943; Phenotypes: Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1D | Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1C | Achchuthan Shanmugasundram reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15454078; Phenotypes: TIMOTHY SYNDROME, OMIM:601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1B | Achchuthan Shanmugasundram reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982612; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS, OMIM:618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1A | Achchuthan Shanmugasundram reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28927557, 27476654, 23934111, 29366381, 28742085; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA8 | Achchuthan Shanmugasundram reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19461874; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3, OMIM:613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA5A | Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA2 | Achchuthan Shanmugasundram reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8127074, 12566520, 5041390, 1301935; Phenotypes: OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3, OMIM:259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C8orf37 | Achchuthan Shanmugasundram reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: 27008867, 26854863, 25802487, 22177090, 26865426, 25113443; Phenotypes: CONE-ROD DYSTROPHY 16, OMIM:614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C5orf42 | Achchuthan Shanmugasundram reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C4orf26 | Achchuthan Shanmugasundram reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901946; Phenotypes: AMYELOGENESIS, OMIM:614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C2orf71 | Achchuthan Shanmugasundram reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: 27029556, 20398886, 24780881, 20398884; Phenotypes: RETINITIS PIGMENTOSA 54, OMIM:613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C2CD3 | Achchuthan Shanmugasundram reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24997988; Phenotypes: OROFACIODIGITAL SYNDROME XIV, OMIM:615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C21orf59 | Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C21orf2 | Achchuthan Shanmugasundram reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia, OMIM:602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C1QBP | Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C12orf65 | Achchuthan Shanmugasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 26380172, 24424123, 24284555, 24080142, 20598281, 23188110, 27858754; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, OMIM:613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C12orf57 | Achchuthan Shanmugasundram reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24798461, 23453666; Phenotypes: TEMTAMY SYNDROME, COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C11orf70 | Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1B | Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1 | Achchuthan Shanmugasundram reviewed gene: BUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: BUB1-related microcephaly and developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BTD | Achchuthan Shanmugasundram reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550325, 9158148, 9375914, 8894703, 10801053, 9705240, 9099842; Phenotypes: BIOTINIDASE DEFICIENCY, OMIM:253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSND | Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSN | Achchuthan Shanmugasundram reviewed gene: BSN: Rating: RED; Mode of pathogenicity: Other; Publications: 36600631; Phenotypes: BSN-related epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRWD3 | Achchuthan Shanmugasundram reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668385, 30628072, 31714006; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRSK2 | Achchuthan Shanmugasundram reviewed gene: BRSK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879638; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRPF1 | Achchuthan Shanmugasundram reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939640, 27939639; Phenotypes: BRPF1 associated syndromic intellectual disability with ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRIP1 | Achchuthan Shanmugasundram reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, OMIM:609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRF1 | Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748960, 25561519, 32896090; Phenotypes: BRF1-related cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRD4 | Achchuthan Shanmugasundram reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30302754, 29379197; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRCA2 | Achchuthan Shanmugasundram reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15070707, 12065746, 14670928; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1, OMIM:605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRCA1 | Achchuthan Shanmugasundram reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34680915, 12624153; Phenotypes: BRCA1-related Fanconi anaemia, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRAT1 | Achchuthan Shanmugasundram reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME, OMIM:614498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRAF | Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BPTF | Achchuthan Shanmugasundram reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942966; Phenotypes: Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BOLA3 | Achchuthan Shanmugasundram reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11156534; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2, OMIM:614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BNC2 | Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31051115; Phenotypes: Congenital Lower Urinary Tract Obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMPR1B | Achchuthan Shanmugasundram reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203755, 14523231; Phenotypes: BRACHYDACTYLY TYPE A2, OMIM:112600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMPER | Achchuthan Shanmugasundram reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869035; Phenotypes: DIAPHANOSPONDYLODYSOSTOSIS, OMIM:608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMP4 | Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252212, 19249007, 21340693; Phenotypes: BMP4-associated malformations, OMIM:607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMP2 | Achchuthan Shanmugasundram reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BLOC1S6 | Achchuthan Shanmugasundram reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665000, 22461475; Phenotypes: HERMANSKY-PUDLAK SYNDROME 9, OMIM:614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BLM | Achchuthan Shanmugasundram reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10678659, 7585968, 8875252; Phenotypes: BLOOM SYNDROME, OMIM:210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BIN1 | Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042, 20142620; Phenotypes: CENTRONUCLEAR MYOPATHY 2, OMIM:255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICRA | Achchuthan Shanmugasundram reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: BICRA-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICD2 | Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BHLHA9 | Achchuthan Shanmugasundram reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22147889, 23790188, 25466284; Phenotypes: MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BGN | Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27632686, 27236923, 34807424; Phenotypes: Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BFSP2 | Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCS1L | Achchuthan Shanmugasundram reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 12215968; Phenotypes: GRACILE SYNDROME, OMIM:603358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCORL1 | Achchuthan Shanmugasundram reviewed gene: BCORL1: Rating: RED; Mode of pathogenicity: Other; Publications: 30941876, 33810051, 34400773, 24123876; Phenotypes: Shukla-Vernon Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCOR | Achchuthan Shanmugasundram reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29974297, 28317252, 19367324, 15957158, 31048080, 15004558, 15770227; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 2, OMIM:300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCL11B | Achchuthan Shanmugasundram reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BCL11B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCL11A | Achchuthan Shanmugasundram reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: ; Publications: 35856171, 25533962, 27453576; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCKDHB | Achchuthan Shanmugasundram reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCKDHA | Achchuthan Shanmugasundram reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1847055, 2010537, 1990841, 11509994, 9582350, 2703538, 18378174, 14742428, 9621512, 8430702, 7883996, 14508502, 2022752; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAS3 | Achchuthan Shanmugasundram reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAP31 | Achchuthan Shanmugasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 28332767, 24011989; Phenotypes: DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS9 | Achchuthan Shanmugasundram reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380913, 22353939; Phenotypes: BARDET-BIEDL SYNDROME TYPE 9, OMIM:615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS7 | Achchuthan Shanmugasundram reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12567324; Phenotypes: BARDET-BIEDL SYNDROME TYPE 7, OMIM:615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS5 | Achchuthan Shanmugasundram reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203199, 15137946; Phenotypes: BARDET-BIEDL SYNDROME TYPE 5, OMIM:615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS4 | Achchuthan Shanmugasundram reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11381270, 12016587; Phenotypes: BARDET-BIEDL SYNDROME TYPE 4, OMIM:615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS2 | Achchuthan Shanmugasundram reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20618352, 11567139, 16823392, 11285252; Phenotypes: BARDET-BIEDL SYNDROME TYPE 2, OMIM:615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS12 | Achchuthan Shanmugasundram reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 19797195, 26082521, 17160889, 20827784; Phenotypes: BARDET-BIEDL SYNDROME TYPE 12, OMIM:615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS10 | Achchuthan Shanmugasundram reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762677, 20805367, 16582908; Phenotypes: BARDET-BIEDL SYNDROME TYPE 10, OMIM:615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS1 | Achchuthan Shanmugasundram reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143442, 12524598, 10577922, 10577921, 20177705, 12118255, 12837689; Phenotypes: BARDET-BIEDL SYNDROME TYPE 1, OMIM:209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BAZ2B | Achchuthan Shanmugasundram reviewed gene: BAZ2B: Rating: RED; Mode of pathogenicity: ; Publications: 31999386; Phenotypes: BAZ2B-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BAP1 | Achchuthan Shanmugasundram reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35051358; Phenotypes: BAP1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BANF1 | Achchuthan Shanmugasundram reviewed gene: BANF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21549337; Phenotypes: NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B9D1 | Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21493627; Phenotypes: MECKEL SYNDROME 9, OMIM:614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT7 | Achchuthan Shanmugasundram reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 3631078, 15211654; Phenotypes: EHLERS-DANLOS SYNDROME PROGEROID TYPE, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT1 | Achchuthan Shanmugasundram reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32157688, 21920538, 11901181; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GAT3 | Achchuthan Shanmugasundram reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: Other; Publications: 31438591; Phenotypes: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALT6 | Achchuthan Shanmugasundram reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23664117; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1, OMIM:271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALNT2 | Achchuthan Shanmugasundram reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29791932, 23453667; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11, OMIM:615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AXIN1 | Achchuthan Shanmugasundram reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CAUDAL DUPLICATION ANOMALY, OMIM:607864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AUTS2 | Achchuthan Shanmugasundram reviewed gene: AUTS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26545289, 23650183, 25205402, 23332918, 31788251, 27531620, 27075013, 24459036; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AUH | Achchuthan Shanmugasundram reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: 6181239, 20855850, 15033206, 10070612, 12434311; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA TYPE 1, OMIM:250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATRX | Achchuthan Shanmugasundram reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222662, 10995512, 9244431, 7697714, 10632111, 15565397, 10751095, 9043863, 9598720, 8644709, 6711605, 12116232, 6682021; Phenotypes: ALPHA-THALASSEMIA INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME X-LINKED NON-DELETION TYPE, OMIM:301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATR | Achchuthan Shanmugasundram reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SECKEL SYNDROME TYPE 1, OMIM:210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP9A | Achchuthan Shanmugasundram reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34379057, 34764295; Phenotypes: ATP9A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP8B1 | Achchuthan Shanmugasundram reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 5762004, 11093741, 15317749, 9500542; Phenotypes: ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS, OMIM:211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP8A2 | Achchuthan Shanmugasundram reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: Other; Publications: 16075202, 22892528; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP7A | Achchuthan Shanmugasundram reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8149649, 11431706, 15372525, 19194885, 9246006, 17108763, 20170900, 10739752, 14635105, 9894833, 12221109, 19153371, 7842019, 8812725; Phenotypes: MENKES DISEASE, OMIM:309400, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1E1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471; Phenotypes: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1B2 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25915598; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1B1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566520, 18798332, 9916796; Phenotypes: DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OMIM:267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1A | Achchuthan Shanmugasundram reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471, 29668857, 32045939; Phenotypes: Autosomal Recessive Cutis Laxa, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V0C | Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074901, 33190975, 24623842, 28135719; Phenotypes: ATP6V0C-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V0A1 | Achchuthan Shanmugasundram reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28135719, 30842224; Phenotypes: ATP6V0A1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6AP2 | Achchuthan Shanmugasundram reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5D | Achchuthan Shanmugasundram reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29478781; Phenotypes: ATP5F1D metabolic disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5A1 | Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34483339, 23599390, 23596069; Phenotypes: ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP2B1 | Achchuthan Shanmugasundram reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35358416; Phenotypes: ATP2B1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A3 | Achchuthan Shanmugasundram reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33880529, 22842232; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD, OMIM:104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A2 | Achchuthan Shanmugasundram reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31608932, 20837964, 17435187, 30690204, 33880529, 33493807; Phenotypes: ATP1A2-related epileptic encephalopathy, MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related, Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A1 | Achchuthan Shanmugasundram reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30388404; Phenotypes: Renal Hypomagnesemia Refractory Seizures and Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP13A2 | Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSON DISEASE 9, OMIM:606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATOH7 | Achchuthan Shanmugasundram reviewed gene: ATOH7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATN1 | Achchuthan Shanmugasundram reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827498; Phenotypes: congenital hypotonia, epilepsy, developmental delay, digit abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATM | Achchuthan Shanmugasundram reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755918, 9887333, 8968760, 11826028, 8808599, 9450874, 9600235, 7792600, 22345219, 11889466, 2491181, 9521587, 9443866, 9781027; Phenotypes: ATAXIA-TELANGIECTASIA, OMIM:208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATL1 | Achchuthan Shanmugasundram reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35925862; Phenotypes: ATL1-associated hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATIC | Achchuthan Shanmugasundram reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 15114530; Phenotypes: AICA-RIBOSURIA, OMIM:608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATG7 | Achchuthan Shanmugasundram reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161705; Phenotypes: ATG7-related intellectual disability and ataxia, OMIM:619422; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATG4D | Achchuthan Shanmugasundram reviewed gene: ATG4D: Rating: RED; Mode of pathogenicity: Other; Publications: 36765070; Phenotypes: ATG4D-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATAD3A | Achchuthan Shanmugasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004445, 27640307; Phenotypes: ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL3 | Achchuthan Shanmugasundram reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29316359, 24044690, 29367179, 31180560, 27075689, 27901041, 29305346, 28955728, 23383720, 32240826, 28100473, 31638014, 29445472; Phenotypes: BAINBRIDGE-ROPERS SYNDROME, OMIM:615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL2 | Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28061364; Phenotypes: Developmental delay, macrocephaly, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL1 | Achchuthan Shanmugasundram reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22419483, 21706002; Phenotypes: BOHRING-OPITZ SYNDROME, OMIM:605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASS1 | Achchuthan Shanmugasundram reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CITRULLINEMIA TYPE I, OMIM:215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPM | Achchuthan Shanmugasundram reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: ; Publications: 12355089; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPH | Achchuthan Shanmugasundram reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 24768550; Phenotypes: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS, OMIM:601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPA | Achchuthan Shanmugasundram reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8088831, 8659549, 12638939, 7668285, 7599639, 8252036, 10564886, 10909858, 8023850, 16437572; Phenotypes: CANAVAN DISEASE, OMIM:271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASNS | Achchuthan Shanmugasundram reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24139043, 27743885, 32255274, 28776279, 27268761, 31720226, 30978478, 27522229, 25227173, 27469131, 29375865, 29279279, 31123592, 32481472, 25663424, 30057589, 27422383; Phenotypes: Asparagine synthetase deficiency, OMIM:615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASL | Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12384776, 12408190, 2263616; Phenotypes: ARGININOSUCCINATE LYASE DEFICIENCY, OMIM:207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASH1L | Achchuthan Shanmugasundram reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276005, 29753921, 25961944, 28394464; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCL1 | Achchuthan Shanmugasundram reviewed gene: ASCL1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC3 | Achchuthan Shanmugasundram reviewed gene: ASCC3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC1 | Achchuthan Shanmugasundram reviewed gene: ASCC1: Rating: RED; Mode of pathogenicity: ; Publications: 35838082, 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASAH1 | Achchuthan Shanmugasundram reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22703880, 8955159, 11241842, 10610716, 16951918; Phenotypes: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARX | Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12379852, 21108397, 19606478, 18462864, 19738637, 14722918, 10353782, 12177367, 17668384, 1605226, 11891829, 21204226, 11971879, 11889467; Phenotypes: PARTINGTON SYNDROME, OMIM:309510, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED, OMIM:300419; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSE | Achchuthan Shanmugasundram reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070, 12567415, 9409863; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, OMIM:302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSB | Achchuthan Shanmugasundram reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 1550123, 17643332, 8723688, 1301949, 1718978, 8651289; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 6, OMIM:253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSA | Achchuthan Shanmugasundram reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670590, 7906588, 8104633, 8101038, 9600244, 11941485, 11456299, 7833949, 7909527, 7858169, 1678251, 7815433, 1353340, 1673291, 12788103, 2574462, 11061266, 8101083, 7902317, 7866401, 1676699, 7981715, 1684088; Phenotypes: ARYLSULFATASE A DEFICIENCY, OMIM:250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARPC4 | Achchuthan Shanmugasundram reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35047857; Phenotypes: ARPC4-related microcephaly and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARNT2 | Achchuthan Shanmugasundram reviewed gene: ARNT2: Rating: RED; Mode of pathogenicity: ; Publications: 24022475; Phenotypes: ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC9 | Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625504; Phenotypes: Joubert syndrome 30, OMIM:617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC4 | Achchuthan Shanmugasundram reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849778; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 23, OMIM:615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL6 | Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL3 | Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30269812; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL14EP | Achchuthan Shanmugasundram reviewed gene: ARL14EP: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID2 | Achchuthan Shanmugasundram reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36756859, 28124119; Phenotypes: ARID2-Coffin-Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1B | Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30349098, 22405089, 22426308, 22426309; Phenotypes: COFFIN SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1A | Achchuthan Shanmugasundram reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COFFIN-SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF9 | Achchuthan Shanmugasundram reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 28589176; Phenotypes: ARHGEF9-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF6 | Achchuthan Shanmugasundram reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 46, OMIM:300436; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP35 | Achchuthan Shanmugasundram reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 28641477; Phenotypes: ARHGAP35-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP31 | Achchuthan Shanmugasundram reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 16451141, 474617; Phenotypes: ADAMS-OLIVER SYNDROME 1, OMIM:100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARG1 | Achchuthan Shanmugasundram reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1463019, 1598908, 2365823, 10502833, 7649538; Phenotypes: ARGININEMIA, OMIM:207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF2 | Achchuthan Shanmugasundram reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14647276; Phenotypes: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OMIM:608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF1 | Achchuthan Shanmugasundram reviewed gene: ARFGEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113008; Phenotypes: ARFGEF1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF3 | Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36369169; Phenotypes: ARF3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF1 | Achchuthan Shanmugasundram reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28868155, 34353862; Phenotypes: PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARCN1 | Achchuthan Shanmugasundram reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476655; Phenotypes: Microcephalic dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AR | Achchuthan Shanmugasundram reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200, ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APTX | Achchuthan Shanmugasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15852392, 11586300, 12196655, 11586299, 15365154; Phenotypes: ATAXIA WITH OCULOMOTOR APRAXIA 1, OMIM:208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APOPT1 | Achchuthan Shanmugasundram reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25175347, 27588451; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APC2 | Achchuthan Shanmugasundram reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4S1 | Achchuthan Shanmugasundram reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21620353; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4M1 | Achchuthan Shanmugasundram reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19559397; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4E1 | Achchuthan Shanmugasundram reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20972249; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4, OMIM:613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4B1 | Achchuthan Shanmugasundram reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290197, 21620353; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP3B2 | Achchuthan Shanmugasundram reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889060; Phenotypes: Epileptic Encephalopathy with Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2S1 | Achchuthan Shanmugasundram reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: AP2S1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2M1 | Achchuthan Shanmugasundram reviewed gene: AP2M1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31104773; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1S2 | Achchuthan Shanmugasundram reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17617514, 17186471, 12599187, 5054319, 10398241; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 59, OMIM:300630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1G1 | Achchuthan Shanmugasundram reviewed gene: AP1G1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34102099; Phenotypes: AP1G1-related intellectual disability, biallelic, AP1G1-related intellectual disability and epilepsy, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1B1 | Achchuthan Shanmugasundram reviewed gene: AP1B1: Rating: RED; Mode of pathogenicity: ; Publications: 31630791, 31630788; Phenotypes: MEDNIK-like Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANTXR1 | Achchuthan Shanmugasundram reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23602711; Phenotypes: GAPO SYNDROME, OMIM:230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANO5 | Achchuthan Shanmugasundram reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307, GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANO1 | Achchuthan Shanmugasundram reviewed gene: ANO1: Rating: RED; Mode of pathogenicity: ; Publications: 32487539; Phenotypes: ANO1-associated intestinal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD26 | Achchuthan Shanmugasundram reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10521306, 21211618; Phenotypes: THROMBOCYTOPENIA 2, OMIM:188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD17 | Achchuthan Shanmugasundram reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: ANKRD17-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD11 | Achchuthan Shanmugasundram reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23494856, 25464108, 30877071, 25838844, 28449295, 23184435, 29224748, 30088855, 25652421, 21782149, 28250421, 27900361, 27667800; Phenotypes: KBG SYNDROME, OMIM:148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKH | Achchuthan Shanmugasundram reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9915952, 12297989, 2712793, 13130483, 14322785, 8528213, 11326272, 8244341, 12297987, 20358596; Phenotypes: CHONDROCALCINOSIS 2, OMIM:118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE, OMIM:123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANK2 | Achchuthan Shanmugasundram reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 25356970, 30755392, 22542183, 28191889; Phenotypes: ANK2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANAPC1 | Achchuthan Shanmugasundram reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31303264; Phenotypes: Rothmund-Thomson Syndrome Type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMT | Achchuthan Shanmugasundram reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMPD2 | Achchuthan Shanmugasundram reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23911318; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMOTL1 | Achchuthan Shanmugasundram reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36751037; Phenotypes: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMER1 | Achchuthan Shanmugasundram reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19079258; Phenotypes: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, OMIM:300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX4 | Achchuthan Shanmugasundram reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRONTONASAL DYSPLASIA 2, OMIM:613451, PARIETAL FORAMINA 2, OMIM:609597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX3 | Achchuthan Shanmugasundram reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19409524; Phenotypes: FRONTONASAL DYSPLASIA TYPE 1, OMIM:136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX1 | Achchuthan Shanmugasundram reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451171, 27324866; Phenotypes: FRONTONASAL DYSPLASIA TYPE 3, OMIM:613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALS2 | Achchuthan Shanmugasundram reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586297; Phenotypes: ALS2-RELATED DISORDERS, OMIM:240656; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALPL | Achchuthan Shanmugasundram reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 3174660; Phenotypes: HYPOPHOSPHATASIA, OMIM:241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALMS1 | Achchuthan Shanmugasundram reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11941369, 22043170, 9063741, 17850632, 21877133, 17594715, 11941370; Phenotypes: ALSTROM SYNDROME, OMIM:203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALKBH8 | Achchuthan Shanmugasundram reviewed gene: ALKBH8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079898, 33544954, 34757492; Phenotypes: ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG9 | Achchuthan Shanmugasundram reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG9-CDG, OMIM:300153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG8 | Achchuthan Shanmugasundram reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG8-CDG, OMIM:237145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG6 | Achchuthan Shanmugasundram reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG6-CDG, OMIM:237124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG3 | Achchuthan Shanmugasundram reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG3-CDG, OMIM:237128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG2 | Achchuthan Shanmugasundram reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG2-CDG, OMIM:237149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG13 | Achchuthan Shanmugasundram reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22492991, 23934111, 28887793; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG12 | Achchuthan Shanmugasundram reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: ; Publications: 11983712, 12217961, 12093361; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G, OMIM:607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG11 | Achchuthan Shanmugasundram reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG11-CDG, OMIM:319490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG1 | Achchuthan Shanmugasundram reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG1-CDG, OMIM:300141; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDOA | Achchuthan Shanmugasundram reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2825199, 8598869; Phenotypes: GLYCOGEN STORAGE DISEASE XII, OMIM:611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH7A1 | Achchuthan Shanmugasundram reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17068770, 16491085, 17721876; Phenotypes: PYRIDOXINE-DEPENDENT EPILEPSY, OMIM:266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH5A1 | Achchuthan Shanmugasundram reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14635103, 9683595, 16542398; Phenotypes: SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OMIM:271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH4A1 | Achchuthan Shanmugasundram reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9700195; Phenotypes: HYPERPROLINEMIA TYPE 2, OMIM:239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH3A2 | Achchuthan Shanmugasundram reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9250352, 10577908, 10792573, 8528251, 9254849; Phenotypes: sjogren-larsson syndrome, OMIM:270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A3 | Achchuthan Shanmugasundram reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24568872, 23312594, 26873617, 23646827, 24024553, 24777706, 23591992; Phenotypes: ANOPHTHALMIA/MICROPHTHALMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A2 | Achchuthan Shanmugasundram reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33565183; Phenotypes: ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH18A1 | Achchuthan Shanmugasundram reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26829900, 26297557, 26297558, 26320891, 28228640, 26026163; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, OMIM:612652, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, OMIM:601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OMIM:616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALAD | Achchuthan Shanmugasundram reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: Other; Publications: 2063868; Phenotypes: ACUTE HEPATIC PORPHYRIA, OMIM:612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT3 | Achchuthan Shanmugasundram reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22500628, 22729224; Phenotypes: HEMIMEGALENCEPHALY AKT3, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT2 | Achchuthan Shanmugasundram reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28541532, 26003998, 24285683, 21979934; Phenotypes: AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT1 | Achchuthan Shanmugasundram reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22876373, 21793738; Phenotypes: PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKR1D1 | Achchuthan Shanmugasundram reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12970144; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, OMIM:235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AK2 | Achchuthan Shanmugasundram reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19043417, 19043416; Phenotypes: RETICULAR DYSGENESIS, OMIM:267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIRE | Achchuthan Shanmugasundram reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 12050215, 16965330, 9398840, 9837820; Phenotypes: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1, OMIM:240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIPL1 | Achchuthan Shanmugasundram reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615133, 26650897, 10873396; Phenotypes: LEBER CONGENITAL AMAUROSIS 4, OMIM:604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIMP1 | Achchuthan Shanmugasundram reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21092922; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIFM1 | Achchuthan Shanmugasundram reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23217327, 20362274; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AHI1 | Achchuthan Shanmugasundram reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25616960, 16453322, 16155189, 15467982, 25356976, 28442542, 16240161; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AHDC1 | Achchuthan Shanmugasundram reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31182893, 27148574, 30622101, 30729726, 30152016, 29230160, 30858058, 24791903, 29696776, 35596688, 32256298, 31812316; Phenotypes: XIA-GIBBS SYNDROME, OMIM:615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGXT | Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8101040; Phenotypes: HYPEROXALURIA, PRIMARY, TYPE 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGTPBP1 | Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557, 30976113, 31102495, 28600779; Phenotypes: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGPS | Achchuthan Shanmugasundram reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11152660, 7807941; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGO1 | Achchuthan Shanmugasundram reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35060114; Phenotypes: AGO1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGL | Achchuthan Shanmugasundram reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8702417, 19834502, 9412782, 8990006, 11378828, 10571954, 8755644, 10925384, 10655153, 9490286; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE III, OMIM:232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGK | Achchuthan Shanmugasundram reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 22415731, 22284826, 22277967, 26622071, 3560758, 25208612, 15168109, 23266196; Phenotypes: SENGERS SYNDROME, OMIM:212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGA | Achchuthan Shanmugasundram reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1765378, 8776587, 6883788; Phenotypes: ASPARTYLGLUCOSAMINURIA, OMIM:208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFG3L2 | Achchuthan Shanmugasundram reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: ; Publications: 28449981, 22022284, 31111429, 32248051, 32237276; Phenotypes: AFG3L2-related ataxia and seizures, OMIM:614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF4 | Achchuthan Shanmugasundram reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF3 | Achchuthan Shanmugasundram reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36576140, 33961779; Phenotypes: Skeletal dysplasia with severe neurological disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF2 | Achchuthan Shanmugasundram reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8334699, 21739600; Phenotypes: FRAGILE X-E INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADSL | Achchuthan Shanmugasundram reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12016589, 18830228, 6150139, 9545543, 10090474; Phenotypes: ADENYLOSUCCINASE DEFICIENCY, OMIM:103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADRA2B | Achchuthan Shanmugasundram reviewed gene: ADRA2B: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADPRHL2 | Achchuthan Shanmugasundram reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401461, 30388405; Phenotypes: Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADNP | Achchuthan Shanmugasundram reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475273, 29475819, 30107084, 32275126, 25169753, 28221363, 29724491, 31127536, 27031564, 24531329, 28407407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT, 28, OMIM:615873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADK | Achchuthan Shanmugasundram reviewed gene: ADK: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADGRG6 | Achchuthan Shanmugasundram reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26004201; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 9, OMIM:616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADGRG1 | Achchuthan Shanmugasundram reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044805; Phenotypes: POLYMICROGYRIA, OMIM:606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADCY5 | Achchuthan Shanmugasundram reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ADCY5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADARB1 | Achchuthan Shanmugasundram reviewed gene: ADARB1: Rating: RED; Mode of pathogenicity: Other; Publications: 32220291; Phenotypes: ADARB1-associated Microcephaly, Intellectual Disability, and Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAR | Achchuthan Shanmugasundram reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 16935814, 23001123, 17478391, 24262145, 16817193, 12916015; Phenotypes: AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, OMIM:615010, AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC, OMIM:615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1, OMIM:127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTSL2 | Achchuthan Shanmugasundram reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18677313, 21415077; Phenotypes: GELEOPHYSIC DYSPLASIA 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS9 | Achchuthan Shanmugasundram reviewed gene: ADAMTS9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609407; Phenotypes: Nephronophthisis Related Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS18 | Achchuthan Shanmugasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 24874986, 23818446, 22686506; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAM22 | Achchuthan Shanmugasundram reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: ; Publications: 35373813; Phenotypes: ADAM22-associated developmental and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADA | Achchuthan Shanmugasundram reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8227344, 9225964, 46025, 21228398, 3684597, 3475710, 2783588, 9361033, 8673127, 11807006, 980079, 3839802, 8614422, 2166947, 1680289, 8031011, 3182793; Phenotypes: ADENOSINE DEAMINASE DEFICIENCY, OMIM:102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACY1 | Achchuthan Shanmugasundram reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17562838, 16465618, 16274666; Phenotypes: AMINOACYLASE-1 DEFICIENCY, OMIM:609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACVR2B | Achchuthan Shanmugasundram reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACVR1 | Achchuthan Shanmugasundram reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16642017, 18830232, 19085907, 18203193, 19330033; Phenotypes: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTL6B | Achchuthan Shanmugasundram reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28867141, 30656450, 31031012; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTG1 | Achchuthan Shanmugasundram reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTB | Achchuthan Shanmugasundram reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220674, 22366783, 27625340; Phenotypes: ACTB Haploinsufficiency syndtome, BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTA2 | Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35567597; Phenotypes: MOYAMOYA DISEASE 5, OMIM:614042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTA1 | Achchuthan Shanmugasundram reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10508519; Phenotypes: NEMALINE MYOPATHY 3, OMIM:161800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACSL4 | Achchuthan Shanmugasundram reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12525535, 11889465; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 63, OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACP5 | Achchuthan Shanmugasundram reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21217755, 16470600, 21217752, 12786759, 13524805; Phenotypes: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, OMIM:607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACOX1 | Achchuthan Shanmugasundram reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17458872, 2894756, 8279468, 18536048, 11815777; Phenotypes: ADRENOLEUKODYSTROPHY PSEUDONEONATAL, OMIM:264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACO2 | Achchuthan Shanmugasundram reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28545339, 29577077, 29564393, 22405087, 31106992; Phenotypes: INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACER3 | Achchuthan Shanmugasundram reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26792856, 34281620, 32816236; Phenotypes: ACER3-related leukodystrophy, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACBD6 | Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACBD5 | Achchuthan Shanmugasundram reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23105016, 27799409, 33427402; Phenotypes: ACBD5 deficiency, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAT1 | Achchuthan Shanmugasundram reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7907600, 4690360, 1715688, 1627655, 9700610, 1346617, 11914035, 1979337; Phenotypes: ALPHA-METHYLACETOACETIC ACIDURIA, OMIM:203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAN | Achchuthan Shanmugasundram reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE, OMIM:612813, SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY, OMIM:608361; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADVL | Achchuthan Shanmugasundram reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554073, 9546340, 9709714, 7668252, 11158518, 7479827, 10790204; Phenotypes: VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADS | Achchuthan Shanmugasundram reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2808706; Phenotypes: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADM | Achchuthan Shanmugasundram reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7929823, 1684086, 6434827, 1972503, 7603790, 11409868, 11349232, 9158144; Phenotypes: MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAD9 | Achchuthan Shanmugasundram reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21057504, 17564966; Phenotypes: ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY, OMIM:611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABL1 | Achchuthan Shanmugasundram reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations, OMIM:617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD5 | Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11590543; Phenotypes: CHANARIN-DORFMAN SYNDROME, OMIM:275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD16A | Achchuthan Shanmugasundram reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587489; Phenotypes: ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCD4 | Achchuthan Shanmugasundram reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22922874; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, OMIM:614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCD1 | Achchuthan Shanmugasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7904210, 8441467, 11748843; Phenotypes: ADRENOLEUKODYSTROPHY, X-LINKED, OMIM:300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCC9 | Achchuthan Shanmugasundram reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCC6 | Achchuthan Shanmugasundram reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835642, 22209248, 10811882, 10835643; Phenotypes: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, OMIM:614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB7 | Achchuthan Shanmugasundram reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB6 | Achchuthan Shanmugasundram reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: Other; Publications: 22226084; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, OMIM:614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB11 | Achchuthan Shanmugasundram reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16039748, 9806540, 10579978; Phenotypes: ABCB11-RELATED INTRAHEPATIC CHOLESTASIS, OMIM:601847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABAT | Achchuthan Shanmugasundram reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 28411234, 27903293, 27376954; Phenotypes: ABAT-related GABA-transaminase Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AASS | Achchuthan Shanmugasundram reviewed gene: AASS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23570448, 10775527, 934735; Phenotypes: HYPERLYSINEMIA, OMIM:238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AARS | Achchuthan Shanmugasundram reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 34446925; Phenotypes: EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AAAS | Achchuthan Shanmugasundram reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 11701718, 11062474, 15173230, 11159947, 18628786; Phenotypes: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, OMIM:231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZSWIM6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZSWIM6. Mode of pathogenicity for gene ZSWIM6 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZNF713 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF713 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF599 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF599 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF526 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF526 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF407 |
Achchuthan Shanmugasundram gene: ZNF407 was added gene: ZNF407 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZNF407 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF407 were set to 24907849; 32737394 Phenotypes for gene: ZNF407 were set to ZNF407-related Neurodevelopmental Disorder Mode of pathogenicity for gene: ZNF407 was set to Other |
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| DDG2P v3.11 | ZMYND8 |
Achchuthan Shanmugasundram gene: ZMYND8 was added gene: ZMYND8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND8 were set to 35916866 Phenotypes for gene: ZMYND8 were set to ZMYND8-related neurodevelopmental disorder Mode of pathogenicity for gene: ZMYND8 was set to Other |
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| DDG2P v3.11 | ZIC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZIC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZBTB20 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZBTB20 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZBTB16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZBTB16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YY1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene YY1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YWHAG |
Achchuthan Shanmugasundram Source Expert Review Green was added to YWHAG. Mode of pathogenicity for gene YWHAG was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WT1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WT1 was changed from Other - please provide details in the comments to Other Publications for gene: WT1 were updated from 1658787; 9499425; 10571943 to 8388765; 1302008; 10571943; 1327525; 9499425; 1658787; 1655284 |
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| DDG2P v3.11 | WRAP53 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WRAP53 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNT7A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT7A was changed from Other - please provide details in the comments to Other Publications for gene: WNT7A were updated from 16826533; 21271649; 21344627; 20949531 to 9128926; 20949531; 21344627; 21271649; 16826533 |
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| DDG2P v3.11 | WNT5A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT5A was changed from Other - please provide details in the comments to Other Publications for gene: WNT5A were updated from 5771504; 19918918 to 19918918; 5771504 |
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| DDG2P v3.11 | WNT4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WNT4. Mode of pathogenicity for gene WNT4 was changed from Other - please provide details in the comments to Other Publications for gene: WNT4 were updated from 15317892 to 18179883; 15317892 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WDR81 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR81 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR5 |
Achchuthan Shanmugasundram gene: WDR5 was added gene: WDR5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR5 were set to 36408368 Phenotypes for gene: WDR5 were set to WDR5-related neurodevelopmental disorder Mode of pathogenicity for gene: WDR5 was set to Other |
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| DDG2P v3.11 | WDR37 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR37 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR34 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VPS4A |
Achchuthan Shanmugasundram gene: VPS4A was added gene: VPS4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG Syndrome, biallelic; CIMDAG Syndrome, monoallelic Mode of pathogenicity for gene: VPS4A was set to Other |
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| DDG2P v3.11 | VANGL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VANGL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VAMP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to VAMP2. Mode of pathogenicity for gene VAMP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | VAC14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VAC14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UTP4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene UTP4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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| DDG2P v3.11 | UROC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene UROC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UQCRQ |
Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRQ. Mode of pathogenicity for gene UQCRQ was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UNC45B |
Achchuthan Shanmugasundram gene: UNC45B was added gene: UNC45B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308 Phenotypes for gene: UNC45B were set to UNC45B-associated Progressive Myopathy with Eccentric Cores Mode of pathogenicity for gene: UNC45B was set to Other |
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| DDG2P v3.11 | UHRF1 |
Achchuthan Shanmugasundram gene: UHRF1 was added gene: UHRF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 36458887 Phenotypes for gene: UHRF1 were set to UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Mode of pathogenicity for gene: UHRF1 was set to Other |
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| DDG2P v3.11 | UFSP2 |
Achchuthan Shanmugasundram gene: UFSP2 was added gene: UFSP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFSP2 were set to 33473208 Phenotypes for gene: UFSP2 were set to UFSP2-associated developmental delay and epilepsy Mode of pathogenicity for gene: UFSP2 was set to Other |
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| DDG2P v3.11 | UFC1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene UFC1 was changed from to Other Publications for gene: UFC1 were updated from to 29868776 |
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| DDG2P v3.11 | UBTF |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBTF. Mode of pathogenicity for gene UBTF was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | U2AF2 |
Achchuthan Shanmugasundram gene: U2AF2 was added gene: U2AF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 33057194 Phenotypes for gene: U2AF2 were set to U2AF2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: U2AF2 was set to Other |
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| DDG2P v3.11 | TUFM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUFM. Mode of pathogenicity for gene TUFM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBGCP2 |
Achchuthan Shanmugasundram gene: TUBGCP2 was added gene: TUBGCP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Microcephaly and Lissencephaly Spectrum Disorders Mode of pathogenicity for gene: TUBGCP2 was set to Other |
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| DDG2P v3.11 | TUBG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBG1. Mode of pathogenicity for gene TUBG1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBB4A | Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB4A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBB3. Mode of pathogenicity for gene TUBB3 was changed from Other - please provide details in the comments to Other Publications for gene: TUBB3 were updated from 20829227 to 20074521; 20829227 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBB2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB2B was changed from Other - please provide details in the comments to Other Publications for gene: TUBB2B were updated from 19465910; 22333901 to 22333901; 19465910 |
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| DDG2P v3.11 | TUBB2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBB |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB was changed from Other - please provide details in the comments to Other Publications for gene: TUBB were updated from 26637975 to 23246003; 26637975 |
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| DDG2P v3.11 | TTI2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTI2. Mode of pathogenicity for gene TTI2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSHR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TSHR was changed from Other - please provide details in the comments to Other Publications for gene: TSHR were updated from 9854118 to 9100579; 9589691; 7528344; 9329388; 9185526; 8954020; 11095460; 12050212; 10720030; 9854118 |
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| DDG2P v3.11 | TSEN34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN34. Mode of pathogenicity for gene TSEN34 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSEN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN2. Mode of pathogenicity for gene TSEN2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSEN15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN15. Mode of pathogenicity for gene TSEN15 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRRAP |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP. Mode of pathogenicity for gene TRRAP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRPV4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TRPV4 was changed from Other - please provide details in the comments to Other Publications for gene: TRPV4 were updated from 20577006; 20425821; 21964829; 19232556 to 20425821; 19232556; 20577006; 21964829 |
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| DDG2P v3.11 | TRPV3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRPV3. Mode of pathogenicity for gene TRPV3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRPM3 |
Achchuthan Shanmugasundram gene: TRPM3 was added gene: TRPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM3 were set to 36648066; 32439617; 34438093; 35146895; 31278393 Phenotypes for gene: TRPM3 were set to TRPM3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: TRPM3 was set to Other |
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| DDG2P v3.11 | TRMT10C |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRMT10C. Mode of pathogenicity for gene TRMT10C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRIO |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIO. Mode of pathogenicity for gene TRIO was changed from None to Other Publications for gene: TRIO were updated from 26235986; 27418539; 28796471 to 27418539; 28796471; 32109419; 26235986; 28928363 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRAPPC4 |
Achchuthan Shanmugasundram gene: TRAPPC4 was added gene: TRAPPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC4 were set to 33011761; 32125366; 31794024 Phenotypes for gene: TRAPPC4 were set to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741 |
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| DDG2P v3.11 | TRAPPC2L |
Achchuthan Shanmugasundram gene: TRAPPC2L was added gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 32843486; 30120216 Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Mode of pathogenicity for gene: TRAPPC2L was set to Other |
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| DDG2P v3.11 | TRAPPC10 |
Achchuthan Shanmugasundram gene: TRAPPC10 was added gene: TRAPPC10 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to 30167849 Phenotypes for gene: TRAPPC10 were set to TRAPPC10-associated intellectual disability Mode of pathogenicity for gene: TRAPPC10 was set to Other |
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| DDG2P v3.11 | TRAF7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TRAF7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRA2B |
Achchuthan Shanmugasundram gene: TRA2B was added gene: TRA2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRA2B were set to 36549593 Phenotypes for gene: TRA2B were set to TRA2B-associated neurodevelopmental syndrome Mode of pathogenicity for gene: TRA2B was set to Other |
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| DDG2P v3.11 | TPRKB | Achchuthan Shanmugasundram Mode of pathogenicity for gene TPRKB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPM3 |
Achchuthan Shanmugasundram gene: TPM3 was added gene: TPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM3 were set to 33768912; 24692096 Phenotypes for gene: TPM3 were set to Nemaline/Cap myopathy Mode of pathogenicity for gene: TPM3 was set to Other |
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| DDG2P v3.11 | TPM2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TPM2. Mode of pathogenicity for gene TPM2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TNPO2 |
Achchuthan Shanmugasundram gene: TNPO2 was added gene: TNPO2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNPO2 were set to 34314705 Phenotypes for gene: TNPO2 were set to TNPO2-related intellectual disability Mode of pathogenicity for gene: TNPO2 was set to Other |
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| DDG2P v3.11 | TMEM63A |
Achchuthan Shanmugasundram gene: TMEM63A was added gene: TMEM63A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Transient Hypomyelination during Infancy Mode of pathogenicity for gene: TMEM63A was set to Other |
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| DDG2P v3.11 | TMEM216 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM216. Mode of pathogenicity for gene TMEM216 was changed from Other - please provide details in the comments to Other Publications for gene: TMEM216 were updated from 20036350; 20512146 to 20512146; 20036350 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMEM163 |
Achchuthan Shanmugasundram gene: TMEM163 was added gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to 35953447; 35455965 Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM163 was set to Other |
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| DDG2P v3.11 | TMEM135 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TMEM135 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM106B |
Achchuthan Shanmugasundram gene: TMEM106B was added gene: TMEM106B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM106B were set to 29444210; 29186371 Phenotypes for gene: TMEM106B were set to TMEM106B related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM106B was set to Other |
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| DDG2P v3.11 | TLL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TLL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TK2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | THOC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to THOC2. Mode of pathogenicity for gene THOC2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | THG1L |
Achchuthan Shanmugasundram gene: THG1L was added gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303 Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800 Mode of pathogenicity for gene: THG1L was set to Other |
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| DDG2P v3.11 | TGFBR1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFBR1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFBR1 were updated from 16791849; 16928994; 18070134 to 16791849; 16928994; 18070134; 16596670; 15731757 |
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| DDG2P v3.11 | TGFB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFB1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFB1 were updated from 10973241; 15103729; 11062463 to 11062463; 15103729; 10973241 |
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| DDG2P v3.11 | TFRC | Achchuthan Shanmugasundram Mode of pathogenicity for gene TFRC was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFE3 |
Achchuthan Shanmugasundram gene: TFE3 was added gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172 Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder Mode of pathogenicity for gene: TFE3 was set to Other |
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| DDG2P v3.11 | TFAP2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2B was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2B were updated from 11505339; 10802654; 7645594 to 10802654; 11505339; 7645594 |
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| DDG2P v3.11 | TFAP2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2A was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2A were updated from to 31490282 |
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| DDG2P v3.11 | TERT | Achchuthan Shanmugasundram Mode of pathogenicity for gene TERT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TELO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TELO2. Mode of pathogenicity for gene TELO2 was changed from Other - please provide details in the comments to Other Publications for gene: TELO2 were updated from 27132593; 28944240 to 27132593; 36797513; 28944240 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TEK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TEK was changed from Other - please provide details in the comments to Other Publications for gene: TEK were updated from 19888299; 7833915; 10369874 to 7833915; 10369874; 19888299 |
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| DDG2P v3.11 | TDRD7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TDRD7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCEAL1 |
Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to TCEAL1-related neurodevelopmental disorder Mode of pathogenicity for gene: TCEAL1 was set to Other |
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| DDG2P v3.11 | TBXAS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TBXAS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAF2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TAF2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAF13. Mode of pathogenicity for gene TAF13 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TACR3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TACR3. Mode of pathogenicity for gene TACR3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAC3. Mode of pathogenicity for gene TAC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TAB2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SYT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SYT1. Mode of pathogenicity for gene SYT1 was changed from Other - please provide details in the comments to Other Publications for gene: SYT1 were updated from 25705886 to 30107533; 25705886 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SUPT16H |
Achchuthan Shanmugasundram gene: SUPT16H was added gene: SUPT16H was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUPT16H were set to 31924697 Phenotypes for gene: SUPT16H were set to SUPT16H-related neurodevelopmental disorder Mode of pathogenicity for gene: SUPT16H was set to Other |
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| DDG2P v3.11 | STT3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A. Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene STT3A was changed from Other - please provide details in the comments to Other Publications for gene: STT3A were updated from 23842455 to 23842455; 34653363 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STIM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene STIM1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ST3GAL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL3. Mode of pathogenicity for gene ST3GAL3 was changed from Other - please provide details in the comments to Other Publications for gene: ST3GAL3 were updated from 27604308; 21907012; 23252400; 31584066; 17120046; 25529582 to 31584066; 27604308; 21907012; 23252400; 17120046; 25529582 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ST14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST14. Mode of pathogenicity for gene ST14 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SRPX2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SRPX2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SRP54 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SRP54. Mode of pathogenicity for gene SRP54 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SPTLC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPTLC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to 36543535 Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies Mode of pathogenicity for gene: SPRY1 was set to Other |
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| DDG2P v3.11 | SPRTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPOP |
Achchuthan Shanmugasundram gene: SPOP was added gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPOP were set to 32109420 Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative Mode of pathogenicity for gene: SPOP was set to Other |
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| DDG2P v3.11 | SPECC1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPECC1L. Mode of pathogenicity for gene SPECC1L was changed from Other - please provide details in the comments to Other Publications for gene: SPECC1L were updated from 2541274; 21703590 to 21703590; 2541274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SPAST |
Achchuthan Shanmugasundram gene: SPAST was added gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic) Mode of pathogenicity for gene: SPAST was set to Other |
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| DDG2P v3.11 | SPARC |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC. Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX4. Mode of pathogenicity for gene SOX4 was changed from Other - please provide details in the comments to Other Publications for gene: SOX4 were updated from 30661772 to 35232796; 30661772 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOS2 |
Achchuthan Shanmugasundram gene: SOS2 was added gene: SOS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 26173643; 25795793; 32788663 Phenotypes for gene: SOS2 were set to SOS-2 associated Noonan syndrome, OMIM:616559 Mode of pathogenicity for gene: SOS2 was set to Other |
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| DDG2P v3.11 | SOS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNRPE |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNRPE. Mode of pathogenicity for gene SNRPE was changed from Other - please provide details in the comments to Other Publications for gene: SNRPE were updated from 23246290; 9621144 to 36814386; 23246290; 9621144 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SNIP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SNIP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMCHD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SMCHD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMC5 |
Achchuthan Shanmugasundram gene: SMC5 was added gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMC5 were set to 36333305 Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder Mode of pathogenicity for gene: SMC5 was set to Other |
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| DDG2P v3.11 | SMC3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMC3 was changed from Other - please provide details in the comments to Other Publications for gene: SMC3 were updated from 25125236; 25655089 to 17273969; 25125236; 25655089; 20358602 |
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| DDG2P v3.11 | SMARCE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1. Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308 |
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| DDG2P v3.11 | SLF2 |
Achchuthan Shanmugasundram gene: SLF2 was added gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLF2 were set to 36333305 Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder Mode of pathogenicity for gene: SLF2 was set to Other |
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| DDG2P v3.11 | SLC9A7 |
Achchuthan Shanmugasundram gene: SLC9A7 was added gene: SLC9A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM:301024 Mode of pathogenicity for gene: SLC9A7 was set to Other |
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| DDG2P v3.11 | SLC6A17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A17. Mode of pathogenicity for gene SLC6A17 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC5A7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC5A7. Mode of pathogenicity for gene SLC5A7 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC45A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC45A1. Mode of pathogenicity for gene SLC45A1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC39A8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC39A8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC35B2 |
Achchuthan Shanmugasundram gene: SLC35B2 was added gene: SLC35B2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy Mode of pathogenicity for gene: SLC35B2 was set to Other |
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| DDG2P v3.11 | SLC32A1 |
Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC32A1 were set to 34038384; 36073542 Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy Mode of pathogenicity for gene: SLC32A1 was set to Other |
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| DDG2P v3.11 | SLC31A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC31A1. Mode of pathogenicity for gene SLC31A1 was changed from Other - please provide details in the comments to Other Publications for gene: SLC31A1 were updated from 21937992 to 21937992; 35913762; 36562171 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC30A7 |
Achchuthan Shanmugasundram gene: SLC30A7 was added gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC30A7 were set to 35751429 Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome Mode of pathogenicity for gene: SLC30A7 was set to Other |
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| DDG2P v3.11 | SLC25A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4. Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A24 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC25A24 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A22. Mode of pathogenicity for gene SLC25A22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A19 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19. Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC1A2. Mode of pathogenicity for gene SLC1A2 was changed from Other - please provide details in the comments to Other Publications for gene: SLC1A2 were updated from 28777935; 27476654 to 27476654; 28777935 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC12A5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC12A5. Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene SLC12A5 was changed from Other - please provide details in the comments to Other Publications for gene: SLC12A5 were updated from 24668262 to 24668262; 28477354; 26333769; 27436767 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SKI | Achchuthan Shanmugasundram Mode of pathogenicity for gene SKI was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIK1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIAH1 |
Achchuthan Shanmugasundram gene: SIAH1 was added gene: SIAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to SIAH1-associated neurodevelopmental disorder Mode of pathogenicity for gene: SIAH1 was set to Other |
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| DDG2P v3.11 | SHOC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHMT2 |
Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome Mode of pathogenicity for gene: SHMT2 was set to Other |
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| DDG2P v3.11 | SH3BP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SH3BP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEMA6B |
Achchuthan Shanmugasundram gene: SEMA6B was added gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044 Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder Mode of pathogenicity for gene: SEMA6B was set to Other |
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| DDG2P v3.11 | SEC61A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEC23A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC23A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHAF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHA | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHA was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN8A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN8A was changed from to Other Publications for gene: SCN8A were updated from 22365152 to 22365152; 16236810 |
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| DDG2P v3.11 | SCN4A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223 |
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| DDG2P v3.11 | SCN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A. Mode of pathogenicity for gene SCN3A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SCN11A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN11A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SC5D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other Publications for gene: SC5D were updated from to 12189593; 12812989 |
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| DDG2P v3.11 | SARS2 |
Achchuthan Shanmugasundram gene: SARS2 was added gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 33751860; 24034276 Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Mode of pathogenicity for gene: SARS2 was set to Other |
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| DDG2P v3.11 | SARS |
Achchuthan Shanmugasundram gene: SARS was added gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399; 36041817 Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SARS was set to Other |
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| DDG2P v3.11 | SAMD9L | Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9L was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SAMD9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RYR2 |
Achchuthan Shanmugasundram gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other |
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| DDG2P v3.11 | RUBCN | Achchuthan Shanmugasundram Mode of pathogenicity for gene RUBCN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RTTN |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RTTN was changed from Other - please provide details in the comments to Other Publications for gene: RTTN were updated from 22939636; 29883675; 26608784 to 26608784; 22939636; 29883675 |
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| DDG2P v3.11 | RRM1 |
Achchuthan Shanmugasundram gene: RRM1 was added gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM1 were set to 35617047 Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome Mode of pathogenicity for gene: RRM1 was set to Other |
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| DDG2P v3.11 | RRAS2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RRAS2 was changed from Other - please provide details in the comments to Other Publications for gene: RRAS2 were updated from 31130282; 31130285; 24705357 to 31130282; 31130285; 24705357 |
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| DDG2P v3.11 | RRAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS. Mode of pathogenicity for gene RRAS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RPS23 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPS23. Mode of pathogenicity for gene RPS23 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RPL13 |
Achchuthan Shanmugasundram gene: RPL13 was added gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Mode of pathogenicity for gene: RPL13 was set to Other |
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| DDG2P v3.11 | RPL10 |
Achchuthan Shanmugasundram gene: RPL10 was added gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468 Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 Mode of pathogenicity for gene: RPL10 was set to Other |
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| DDG2P v3.11 | RNU4ATAC |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RNU4ATAC was changed from Other - please provide details in the comments to Other Publications for gene: RNU4ATAC were updated from 17666473; 21474761; 22581640; 21474760 to 22581640; 21474761; 21474760; 17666473 |
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| DDG2P v3.11 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 34085356 Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome Mode of pathogenicity for gene: RNU12 was set to Other |
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| DDG2P v3.11 | RNF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF13. Mode of pathogenicity for gene RNF13 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF125 were set to 34196401; 25196541 Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260 Mode of pathogenicity for gene: RNF125 was set to Other |
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| DDG2P v3.11 | RMND1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RMND1. Mode of pathogenicity for gene RMND1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RLIM |
Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM. Mode of pathogenicity for gene RLIM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RIT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RIT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RHOBTB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RHOBTB2. Mode of pathogenicity for gene RHOBTB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RET |
Achchuthan Shanmugasundram Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene RET was changed from to Other Publications for gene: RET were updated from to 11788682 |
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| DDG2P v3.11 | REST |
Achchuthan Shanmugasundram gene: REST was added gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REST were set to 36509837 Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss Mode of pathogenicity for gene: REST was set to Other |
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| DDG2P v3.11 | RBPJ |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBPJ. Mode of pathogenicity for gene RBPJ was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RBM28 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RBM28 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAP1B |
Achchuthan Shanmugasundram gene: RAP1B was added gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 32627184; 26280580 Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder Mode of pathogenicity for gene: RAP1B was set to Other |
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| DDG2P v3.11 | RANBP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RANBP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RALGDS | Achchuthan Shanmugasundram Mode of pathogenicity for gene RALGDS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RALA |
Achchuthan Shanmugasundram gene: RALA was added gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: RALA was set to Other |
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| DDG2P v3.11 | RAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RAF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAD51C |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51C. Mode of pathogenicity for gene RAD51C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3. Mode of pathogenicity for gene RAC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC1. Mode of pathogenicity for gene RAC1 was changed from Other - please provide details in the comments to Other Publications for gene: RAC1 were updated from 28886345 to 35139179; 28886345 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RABL6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RABL6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB14 |
Achchuthan Shanmugasundram gene: RAB14 was added gene: RAB14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB14 were set to 33057194 Phenotypes for gene: RAB14 were set to RAB14-related developmental disorder (monoallelic) Mode of pathogenicity for gene: RAB14 was set to Other |
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| DDG2P v3.11 | RAB11B |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11B. Mode of pathogenicity for gene RAB11B was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAB11A |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11A. Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | QARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to QARS. Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PYCR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PYCR2. Mode of pathogenicity for gene PYCR2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PTPN11 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTPN11 was changed from Other - please provide details in the comments to Other Publications for gene: PTPN11 were updated from 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 to 19659470; 15520399; 21910226; 15384080; 24820750; 16733669; 12325025; 19864201; 22822385; 19768645; 19054014; 11992261; 23799168; 15240615; 27484170; 11704759; 24790373; 26377839; 25884655; 25917897; 17875892; 12529711; 12161469; 21365175; 19449407; 21747628; 21677813; 17927788 |
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| DDG2P v3.11 | PTDSS1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTDSS1 was changed from Other - please provide details in the comments to Other Publications for gene: PTDSS1 were updated from 24241535 to 35224839; 24241535 |
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| DDG2P v3.11 | PSMC5 |
Achchuthan Shanmugasundram gene: PSMC5 was added gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC5 were set to 33057194 Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: PSMC5 was set to Other |
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| DDG2P v3.11 | PSMC1 |
Achchuthan Shanmugasundram gene: PSMC1 was added gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC1 were set to 35861243 Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder Mode of pathogenicity for gene: PSMC1 was set to Other |
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| DDG2P v3.11 | PSMB8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PSMB8 was changed from Other - please provide details in the comments to Other Publications for gene: PSMB8 were updated from 21852578; 21881205; 21129723; 21953331 to 21881205; 21953331; 21852578; 21129723 |
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| DDG2P v3.11 | PRRX1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708 |
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| DDG2P v3.11 | PRMT9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRMT9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKAR1B |
Achchuthan Shanmugasundram gene: PRKAR1B was added gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1B were set to 33057194; 33833410 Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder Mode of pathogenicity for gene: PRKAR1B was set to Other |
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| DDG2P v3.11 | PRKAR1A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393 |
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| DDG2P v3.11 | PRKACB |
Achchuthan Shanmugasundram gene: PRKACB was added gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACB was set to Other |
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| DDG2P v3.11 | PRKACA |
Achchuthan Shanmugasundram gene: PRKACA was added gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACA were set to 33058759 Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACA was set to Other |
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| DDG2P v3.11 | PRDM6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRDM6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRDM15 |
Achchuthan Shanmugasundram gene: PRDM15 was added gene: PRDM15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 33593823 Phenotypes for gene: PRDM15 were set to PRDM15-related renal and neurodevelopmental disorder Mode of pathogenicity for gene: PRDM15 was set to Other |
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| DDG2P v3.11 | PPP3CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA. Mode of pathogenicity for gene PPP3CA was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PPP2R5D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R5D was changed from Other - please provide details in the comments to Other Publications for gene: PPP2R5D were updated from 25533962 to 25972378; 36216457; 25533962; 26576547 |
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| DDG2P v3.11 | PPP2R1A | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R1A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPP1CB | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PPA2 was changed from Other - please provide details in the comments to Other Publications for gene: PPA2 were updated from 27523598; 27523597 to 27523598; 27523597; 34400813 |
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| DDG2P v3.11 | POU3F3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POU3F3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMP | Achchuthan Shanmugasundram Mode of pathogenicity for gene POMP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene POLR2A was changed from Other - please provide details in the comments to Other Publications for gene: POLR2A were updated from 31353023 to 33665635; 35461703; 31353023 |
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| DDG2P v3.11 | POLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene POLG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POLD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PNPLA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA1. Mode of pathogenicity for gene PNPLA1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PMPCB |
Achchuthan Shanmugasundram Source Expert Review Green was added to PMPCB. Mode of pathogenicity for gene PMPCB was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLCH1 |
Achchuthan Shanmugasundram gene: PLCH1 was added gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to HPE-related disorder Mode of pathogenicity for gene: PLCH1 was set to Other |
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| DDG2P v3.11 | PLCB4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB4. Mode of pathogenicity for gene PLCB4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIP5K1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIP5K1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3R2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3R2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3CA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3CA was changed from Other - please provide details in the comments to Other Publications for gene: PIK3CA were updated from 22729224 to 22658544; 22729224 |
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| DDG2P v3.11 | PIGY |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGY. Mode of pathogenicity for gene PIGY was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGW | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGW was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGV | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGV was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGU |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGU. Mode of inheritance for gene PIGU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene PIGU was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGT | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGN |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGN. Mode of pathogenicity for gene PIGN was changed from Other - please provide details in the comments to Other Publications for gene: PIGN were updated from 21493957 to 21493957; 36322149 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGM | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHOX2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PHOX2B was changed from Other - please provide details in the comments to Other Publications for gene: PHOX2B were updated from 15024693; 12438263; 16691592 to 16691592; 16888290; 12640453; 12438263; 15024693 |
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| DDG2P v3.11 | PHC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PHC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHACTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHACTR1. Mode of pathogenicity for gene PHACTR1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PGAP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PECR | Achchuthan Shanmugasundram Mode of pathogenicity for gene PECR was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDSS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1. Mode of pathogenicity for gene PDSS1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PDGFRB |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PDGFRB was changed from Other - please provide details in the comments to Other Publications for gene: PDGFRB were updated from 26279204 to 30941910; 32291752; 29226947; 26279204; 28639748; 23731542; 25454926 |
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| DDG2P v3.11 | PDE4D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PDE4D was changed from Other - please provide details in the comments to Other Publications for gene: PDE4D were updated from 22464252; 22464250; 23033274 to 22464250; 22464252; 23033274 |
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| DDG2P v3.11 | PDE10A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE10A. Mode of pathogenicity for gene PDE10A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PCGF2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other Publications for gene: PCGF2 were updated from to 30526864 |
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| DDG2P v3.11 | PARP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PAK1. Mode of pathogenicity for gene PAK1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PACS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2. Mode of pathogenicity for gene PACS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PACS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1. Mode of pathogenicity for gene PACS1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | P4HB |
Achchuthan Shanmugasundram Source Expert Review Green was added to P4HB. Mode of pathogenicity for gene P4HB was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | OTUD5 |
Achchuthan Shanmugasundram gene: OTUD5 was added gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931 Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder Mode of pathogenicity for gene: OTUD5 was set to Other |
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| DDG2P v3.11 | OSGEP |
Achchuthan Shanmugasundram Source Expert Review Green was added to OSGEP. Mode of pathogenicity for gene OSGEP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 36520152; 32383294 Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder Mode of pathogenicity for gene: OGDH was set to Other |
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| DDG2P v3.11 | NUP62 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP62. Mode of pathogenicity for gene NUP62 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NUP54 |
Achchuthan Shanmugasundram gene: NUP54 was added gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions Mode of pathogenicity for gene: NUP54 was set to Other |
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| DDG2P v3.11 | NTRK2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NTRK2. Mode of pathogenicity for gene NTRK2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NSUN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN2. Mode of pathogenicity for gene NSUN2 was changed from Other - please provide details in the comments to Other Publications for gene: NSUN2 were updated from 22541562; 22577224; 22541559; 21063731 to 22541559; 21063731; 22577224; 22541562 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NSMCE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NRCAM |
Achchuthan Shanmugasundram gene: NRCAM was added gene: NRCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 35108495 Phenotypes for gene: NRCAM were set to NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity |
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| DDG2P v3.11 | NRAS | Achchuthan Shanmugasundram Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NR1I3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NPM1. Mode of pathogenicity for gene NPM1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NOTCH3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOTCH2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856 |
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| DDG2P v3.11 | NOP10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NKAP |
Achchuthan Shanmugasundram gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other |
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| DDG2P v3.11 | NHP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2. Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NFU1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NFU1 was changed from Other - please provide details in the comments to Other Publications for gene: NFU1 were updated from 22077971; 11156534 to 11156534; 22077971 |
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| DDG2P v3.11 | NFE2L2 |
Achchuthan Shanmugasundram gene: NFE2L2 was added gene: NFE2L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744 Mode of pathogenicity for gene: NFE2L2 was set to Other |
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| DDG2P v3.11 | NEDD4L |
Achchuthan Shanmugasundram Source Expert Review Green was added to NEDD4L. Mode of pathogenicity for gene NEDD4L was changed from Other - please provide details in the comments to Other Publications for gene: NEDD4L were updated from 23934111; 28515470; 27694961 to 27694961; 23934111; 28515470 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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| DDG2P v3.11 | NDUFV1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFV1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFS8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFS8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA10. Mode of pathogenicity for gene NDUFA10 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDST1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDST1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NCDN |
Achchuthan Shanmugasundram gene: NCDN was added gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic) Mode of pathogenicity for gene: NCDN was set to Other |
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| DDG2P v3.11 | NCAPG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NCAPG2. Mode of pathogenicity for gene NCAPG2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NAE1 |
Achchuthan Shanmugasundram gene: NAE1 was added gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Mode of pathogenicity for gene: NAE1 was set to Other |
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| DDG2P v3.11 | NACC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NACC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAA20 |
Achchuthan Shanmugasundram gene: NAA20 was added gene: NAA20 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA20 were set to 34230638 Phenotypes for gene: NAA20 were set to NAA20-associated developmental delay and microcephaly Mode of pathogenicity for gene: NAA20 was set to Other |
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| DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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| DDG2P v3.11 | MYH9 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH9 was changed from to Other Publications for gene: MYH9 were updated from 25077172 to 10973259; 25077172 |
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| DDG2P v3.11 | MTSS1L |
Achchuthan Shanmugasundram gene: MTSS1L was added gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTSS1L were set to 36067766 Phenotypes for gene: MTSS1L were set to MTSS2-associated syndromic intellectual disability Mode of pathogenicity for gene: MTSS1L was set to Other |
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| DDG2P v3.11 | MTOR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148 |
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| DDG2P v3.11 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34075211 Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder Mode of pathogenicity for gene: MT-TL1 was set to Other |
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| DDG2P v3.11 | MSI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MRPS22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS22. Mode of pathogenicity for gene MRPS22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRPS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS2. Mode of pathogenicity for gene MRPS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRAS |
Achchuthan Shanmugasundram gene: MRAS was added gene: MRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MRAS were set to 28289718; 31173466; 31108500 Phenotypes for gene: MRAS were set to NOONAN SYNDROME 11, OMIM:618499 Mode of pathogenicity for gene: MRAS was set to Other |
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| DDG2P v3.11 | MPZ |
Achchuthan Shanmugasundram gene: MPZ was added gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628 Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 Mode of pathogenicity for gene: MPZ was set to Other |
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| DDG2P v3.11 | MPC2 |
Achchuthan Shanmugasundram gene: MPC2 was added gene: MPC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC2 were set to 36417180 Phenotypes for gene: MPC2 were set to MPC2-related metabolic disorder Mode of pathogenicity for gene: MPC2 was set to Other |
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| DDG2P v3.11 | MORC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MORC2. Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene MORC2 was changed from to Other Publications for gene: MORC2 were updated from 26497905 to 32693025; 30624633; 28771897; 26497905 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MOGS |
Achchuthan Shanmugasundram Source Expert Review Green was added to MOGS. Mode of pathogenicity for gene MOGS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MMP14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMP13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP13 was changed from Other - please provide details in the comments to Other Publications for gene: MMP13 were updated from 8412645; 19615667 to 19615667; 8412645 |
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| DDG2P v3.11 | MMGT1 |
Achchuthan Shanmugasundram gene: MMGT1 was added gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MMGT1 were set to 33057194 Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder Mode of pathogenicity for gene: MMGT1 was set to Other |
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| DDG2P v3.11 | MIR184 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MIR184 was changed from Other - please provide details in the comments to Other Publications for gene: MIR184 were updated from 21996275 to 24138095; 23833072; 21996275; 27195078; 25373792 |
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| DDG2P v3.11 | MFSD2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MFN2 |
Achchuthan Shanmugasundram gene: MFN2 was added gene: MFN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MFN2 were set to 33057194 Phenotypes for gene: MFN2 were set to MFN2-related developmental disorder Mode of pathogenicity for gene: MFN2 was set to Other |
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| DDG2P v3.11 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310 Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Mode of pathogenicity for gene: MED25 was set to Other |
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| DDG2P v3.11 | MED23 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MED23 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED17. Mode of pathogenicity for gene MED17 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MED11 |
Achchuthan Shanmugasundram gene: MED11 was added gene: MED11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder Mode of pathogenicity for gene: MED11 was set to Other |
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| DDG2P v3.11 | MECOM |
Achchuthan Shanmugasundram Source Expert Review Green was added to MECOM. Mode of pathogenicity for gene MECOM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MATN3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MATN3 was changed from Other - please provide details in the comments to Other Publications for gene: MATN3 were updated from 15948199; 11479597; 13849708; 14729835 to 14729835; 15948199; 13849708; 11479597 |
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| DDG2P v3.11 | MAST1 |
Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: MAST1 was set to Other |
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| DDG2P v3.11 | MAPRE2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAPRE2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAPK1 |
Achchuthan Shanmugasundram gene: MAPK1 was added gene: MAPK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to MAPK1-related Neurodevelopmental Disorder Mode of pathogenicity for gene: MAPK1 was set to Other |
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| DDG2P v3.11 | MAP3K7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAP3K7. Mode of pathogenicity for gene MAP3K7 was changed from Other - please provide details in the comments to Other Publications for gene: MAP3K7 were updated from 27426734; 27426733 to 27426733; 27426734 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAP2K2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAP2K1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAN2A2 |
Achchuthan Shanmugasundram gene: MAN2A2 was added gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2A2 were set to 36357165 Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation Mode of pathogenicity for gene: MAN2A2 was set to Other |
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| DDG2P v3.11 | MAN1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAN1B1 was changed from Other - please provide details in the comments to Other Publications for gene: MAN1B1 were updated from 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 to 21937992; 26279649; 24566669; 26577042; 21763484; 24348268 |
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| DDG2P v3.11 | MAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690 |
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| DDG2P v3.11 | MACF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MACF1. Mode of pathogenicity for gene MACF1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LZTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LZTR1. Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LMNB2 |
Achchuthan Shanmugasundram gene: LMNB2 was added gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB2 were set to 33033404 Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly Mode of pathogenicity for gene: LMNB2 was set to Other |
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| DDG2P v3.11 | LMNB1 |
Achchuthan Shanmugasundram gene: LMNB1 was added gene: LMNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB1 were set to 32910914; 33033404 Phenotypes for gene: LMNB1 were set to LMNB1-associated developmental disorder Mode of pathogenicity for gene: LMNB1 was set to Other |
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| DDG2P v3.11 | LMBRD2 |
Achchuthan Shanmugasundram gene: LMBRD2 was added gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMBRD2 were set to 32820033 Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability Mode of pathogenicity for gene: LMBRD2 was set to Other |
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| DDG2P v3.11 | LIPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2. Mode of pathogenicity for gene LIPT2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LIPT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT1. Mode of pathogenicity for gene LIPT1 was changed from Other - please provide details in the comments to Other Publications for gene: LIPT1 were updated from 24341803; 27247813; 24256811 to 27247813; 24341803; 24256811 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LIAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIAS. Mode of pathogenicity for gene LIAS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LFNG | Achchuthan Shanmugasundram Mode of pathogenicity for gene LFNG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LETM1 |
Achchuthan Shanmugasundram gene: LETM1 was added gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder Mode of pathogenicity for gene: LETM1 was set to Other |
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| DDG2P v3.11 | LEMD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LEMD2. Mode of pathogenicity for gene LEMD2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LDB3 |
Achchuthan Shanmugasundram Source Expert Review Red was added to LDB3. Mode of pathogenicity for gene LDB3 was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | LAS1L |
Achchuthan Shanmugasundram Mode of inheritance for gene LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene LAS1L was changed from to Other Publications for gene: LAS1L were updated from 25644381 to 25644381; 34653234 |
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| DDG2P v3.11 | LARS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2. Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LAGE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KRT74 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KRT74. Mode of pathogenicity for gene KRT74 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KRAS | Achchuthan Shanmugasundram Mode of pathogenicity for gene KRAS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KPNA7 |
Achchuthan Shanmugasundram Mode of inheritance for gene KPNA7 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KPNA7 was changed from to Other |
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| DDG2P v3.11 | KLF7 |
Achchuthan Shanmugasundram gene: KLF7 was added gene: KLF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF7 were set to 29251763 Phenotypes for gene: KLF7 were set to KLF7-related developmental disorder Mode of pathogenicity for gene: KLF7 was set to Other |
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| DDG2P v3.11 | KLF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KLF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KITLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene KITLG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIRREL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KIRREL3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIF5C |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5C. Mode of pathogenicity for gene KIF5C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF5B |
Achchuthan Shanmugasundram gene: KIF5B was added gene: KIF5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5B were set to 36018820; 35342932 Phenotypes for gene: KIF5B were set to KIF5B-related disease Mode of pathogenicity for gene: KIF5B was set to Other |
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| DDG2P v3.11 | KIF3B |
Achchuthan Shanmugasundram gene: KIF3B was added gene: KIF3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF3B were set to 32386558 Phenotypes for gene: KIF3B were set to KIF3B-related ciliopathy Mode of pathogenicity for gene: KIF3B was set to Other |
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| DDG2P v3.11 | KIF2A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF2A. Mode of pathogenicity for gene KIF2A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF22 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KIF22 was changed from Other - please provide details in the comments to Other Publications for gene: KIF22 were updated from 19277648; 22152678 to 22152678; 19277648 |
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| DDG2P v3.11 | KIAA1109 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA1109. Mode of pathogenicity for gene KIAA1109 was changed from Other - please provide details in the comments to Other Publications for gene: KIAA1109 were updated from 25558065 to 29290337; 25558065 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KDM5A | Achchuthan Shanmugasundram Mode of pathogenicity for gene KDM5A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM1A. Mode of pathogenicity for gene KDM1A was changed from Other - please provide details in the comments to Other Publications for gene: KDM1A were updated from 26656649 to 29559475; 26656649 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCTD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCTD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNT2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNQ3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNQ3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNN3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNN3. Mode of pathogenicity for gene KCNN3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNK9 |
Achchuthan Shanmugasundram Mode of inheritance for gene KCNK9 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Mode of pathogenicity for gene KCNK9 was changed from Other - please provide details in the comments to Other |
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| DDG2P v3.11 | KCNK4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK4. Mode of pathogenicity for gene KCNK4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNK3 |
Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 33057194 Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCNK3 was set to Other |
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| DDG2P v3.11 | KCNJ8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ8. Mode of pathogenicity for gene KCNJ8 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 24700710; 24176758; 25275207 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNJ6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6. Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH1. Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other Publications for gene: KCNE1 were updated from to 30461122 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCND3 |
Achchuthan Shanmugasundram gene: KCND3 was added gene: KCND3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCND3 were set to KCND3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCND3 was set to Other |
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| DDG2P v3.11 | KCNC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3. Mode of pathogenicity for gene KCNC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNB1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNA4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other Publications for gene: KCNA4 were updated from to 27582084 |
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| DDG2P v3.11 | KCNA1 |
Achchuthan Shanmugasundram gene: KCNA1 was added gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945 Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic Mode of pathogenicity for gene: KCNA1 was set to Other |
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| DDG2P v3.11 | KBTBD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KBTBD13 was changed from Other - please provide details in the comments to Other Publications for gene: KBTBD13 were updated from 21104864; 21109227; 12805120 to 21109227; 21104864; 12805120 |
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| DDG2P v3.11 | KAT5 |
Achchuthan Shanmugasundram gene: KAT5 was added gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: KAT5 was set to Other |
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| DDG2P v3.11 | IRX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IRX5. Mode of pathogenicity for gene IRX5 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | IQSEC1 |
Achchuthan Shanmugasundram gene: IQSEC1 was added gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC1 were set to 31607425 Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature Mode of pathogenicity for gene: IQSEC1 was set to Other |
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| DDG2P v3.11 | INPP5K |
Achchuthan Shanmugasundram Source Expert Review Green was added to INPP5K. Mode of pathogenicity for gene INPP5K was changed from Other - please provide details in the comments to Other Publications for gene: INPP5K were updated from 28190459; 28190456 to 28190459; 28190456; 28940338 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | IL11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IHH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389 |
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| DDG2P v3.11 | IGBP1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other Publications for gene: IGBP1 were updated from to 23871722 |
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| DDG2P v3.11 | IFT80 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT43 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT122 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458 |
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| DDG2P v3.11 | IFITM5 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFITM5 was changed from Other - please provide details in the comments to Other Publications for gene: IFITM5 were updated from 22863195; 22863190 to 22863190; 22863195 |
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| DDG2P v3.11 | IFIH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204 |
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| DDG2P v3.11 | HYLS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HUWE1 |
Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 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) Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686 |
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| DDG2P v3.11 | HSF4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349 |
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| DDG2P v3.11 | HRAS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636 |
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| DDG2P v3.11 | HOXD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004 |
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| DDG2P v3.11 | HOXB1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1. Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HNRNPH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2. Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HMGCS2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731 |
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| DDG2P v3.11 | HIST3H3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HIST3H3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HIST1H4J |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J. Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HIST1H4C |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C. Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HECW2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779 |
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| DDG2P v3.11 | HCN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | H3F3B |
Achchuthan Shanmugasundram gene: H3F3B was added gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3B were set to 33268356 Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder Mode of pathogenicity for gene: H3F3B was set to Other |
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| DDG2P v3.11 | H3F3A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356 |
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| DDG2P v3.11 | GTF2IRD1 |
Achchuthan Shanmugasundram gene: GTF2IRD1 was added gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2IRD1 were set to 36308390 Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder Mode of pathogenicity for gene: GTF2IRD1 was set to Other |
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| DDG2P v3.11 | GTF2E2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2. Mode of pathogenicity for gene GTF2E2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GRIN2D |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D. Mode of pathogenicity for gene GRIN2D was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GRIA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRHL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2. Mode of pathogenicity for gene GRHL2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GOT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GOT2. Mode of pathogenicity for gene GOT2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GNE |
Achchuthan Shanmugasundram gene: GNE was added gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088 Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921 Mode of pathogenicity for gene: GNE was set to Other |
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| DDG2P v3.11 | GNB2 |
Achchuthan Shanmugasundram gene: GNB2 was added gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099 Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: GNB2 was set to Other |
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| DDG2P v3.11 | GNB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799 |
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| DDG2P v3.11 | GNAQ |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ. Mode of pathogenicity for gene GNAQ was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GNAI3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNA14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNA14. Mode of pathogenicity for gene GNA14 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GNA11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNA11. Mode of pathogenicity for gene GNA11 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GMNN |
Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN. Mode of pathogenicity for gene GMNN was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GLUL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323 |
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| DDG2P v3.11 | GLUD1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977 |
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| DDG2P v3.11 | GLE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GLE1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJC2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806 |
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| DDG2P v3.11 | GJA8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744 |
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| DDG2P v3.11 | GJA3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266 |
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| DDG2P v3.11 | GFAP |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GFAP was changed from Other - please provide details in the comments to Other Publications for gene: GFAP were updated from 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 to 11138011; 11567214; 12447932; 12975300; 14557587; 12034796 |
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| DDG2P v3.11 | GEMIN4 |
Achchuthan Shanmugasundram gene: GEMIN4 was added gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Mode of pathogenicity for gene: GEMIN4 was set to Other |
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| DDG2P v3.11 | GDF6 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173 |
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| DDG2P v3.11 | GDF3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other Publications for gene: GDF3 were updated from to 19864492; 29260090 |
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| DDG2P v3.11 | GCH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649 |
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| DDG2P v3.11 | GCDH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227 |
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| DDG2P v3.11 | GAD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRG1 |
Achchuthan Shanmugasundram gene: GABRG1 was added gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRG1 were set to 36121006 Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy Mode of pathogenicity for gene: GABRG1 was set to Other |
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| DDG2P v3.11 | GABRB3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111 |
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| DDG2P v3.11 | GABRB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2. Mode of pathogenicity for gene GABRB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GABBR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2. Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder Mode of pathogenicity for gene: GABBR1 was set to Other |
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| DDG2P v3.11 | FZR1 |
Achchuthan Shanmugasundram gene: FZR1 was added gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy Mode of pathogenicity for gene: FZR1 was set to Other |
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| DDG2P v3.11 | FZD5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FZD5. Mode of pathogenicity for gene FZD5 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | FUK |
Achchuthan Shanmugasundram Source Expert Review Green was added to FUK. Mode of pathogenicity for gene FUK was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | FTO | Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FRMD5 |
Achchuthan Shanmugasundram gene: FRMD5 was added gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder Mode of pathogenicity for gene: FRMD5 was set to Other |
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| DDG2P v3.11 | FOXI3 |
Achchuthan Shanmugasundram gene: FOXI3 was added gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXI3 were set to 36260083 Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia Mode of pathogenicity for gene: FOXI3 was set to Other |
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| DDG2P v3.11 | FOXE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FN1. Mode of pathogenicity for gene FN1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | FLVCR1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FLVCR1 was changed from Other - please provide details in the comments to Other Publications for gene: FLVCR1 were updated from 21070897; 9409377; 21267618 to 21267618; 21070897; 9409377; 30656474 |
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| DDG2P v3.11 | FGFR3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183 |
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| DDG2P v3.11 | FGFR2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757 |
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| DDG2P v3.11 | FGF13 |
Achchuthan Shanmugasundram gene: FGF13 was added gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous) Mode of pathogenicity for gene: FGF13 was set to Other |
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| DDG2P v3.11 | FGF12 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGF12 was changed from Other - please provide details in the comments to Other Publications for gene: FGF12 were updated from 27830185; 27164707; 27872899 to 27164707; 27872899; 27830185 |
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| DDG2P v3.11 | FEM1C |
Achchuthan Shanmugasundram gene: FEM1C was added gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder Mode of pathogenicity for gene: FEM1C was set to Other |
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| DDG2P v3.11 | FBXW7 |
Achchuthan Shanmugasundram gene: FBXW7 was added gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW7 were set to 33057194 Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic) Mode of pathogenicity for gene: FBXW7 was set to Other |
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| DDG2P v3.11 | FBXW11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11. Mode of pathogenicity for gene FBXW11 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | FBXO28 |
Achchuthan Shanmugasundram gene: FBXO28 was added gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO28 were set to 30160831; 33280099 Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Mode of pathogenicity for gene: FBXO28 was set to Other |
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| DDG2P v3.11 | FBN2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416 |
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| DDG2P v3.11 | FBLN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FASN | Achchuthan Shanmugasundram Mode of pathogenicity for gene FASN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FAM111A | Achchuthan Shanmugasundram Mode of pathogenicity for gene FAM111A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EZH2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXTL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3. Mode of pathogenicity for gene EXTL3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ERLIN2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ERLIN2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ERBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3. Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other Publications for gene: ERBB3 were updated from to 17701904 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EPB41L1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ENTPD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ENTPD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EMG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1. Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ELP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ELP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF4A3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF2AK2 |
Achchuthan Shanmugasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Mode of pathogenicity for gene: EIF2AK2 was set to Other |
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| DDG2P v3.11 | EIF2AK1 |
Achchuthan Shanmugasundram gene: EIF2AK1 was added gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK1 were set to 32197074 Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome Mode of pathogenicity for gene: EIF2AK1 was set to Other |
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| DDG2P v3.11 | EEF1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2. Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EED |
Achchuthan Shanmugasundram Source Expert Review Green was added to EED. Mode of pathogenicity for gene EED was changed from Other - please provide details in the comments to Other Publications for gene: EED were updated from 28475857; 27193220; 25787343; 27868325 to 27868325; 27193220; 25787343; 28475857 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EDNRA | Achchuthan Shanmugasundram Mode of pathogenicity for gene EDNRA was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DYNC1H1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677 |
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| DDG2P v3.11 | DVL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DVL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DSP |
Achchuthan Shanmugasundram gene: DSP was added gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSP were set to 33057194 Phenotypes for gene: DSP were set to DSP-related developmental disorder Mode of pathogenicity for gene: DSP was set to Other |
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| DDG2P v3.11 | DSE | Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DPYSL5 |
Achchuthan Shanmugasundram gene: DPYSL5 was added gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPYSL5 were set to 33894126 Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DPYSL5 was set to Other |
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| DDG2P v3.11 | DPF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2. Mode of pathogenicity for gene DPF2 was changed from Other - please provide details in the comments to Other Publications for gene: DPF2 were updated from 29429572 to 29429572; 35607970 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DOLK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964 |
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| DDG2P v3.11 | DNM1L |
Achchuthan Shanmugasundram gene: DNM1L was added gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467 Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DNM1L was set to Other |
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| DDG2P v3.11 | DNAAF5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5. Mode of pathogenicity for gene DNAAF5 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DMPK | Achchuthan Shanmugasundram Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DLX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DIP2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX37 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX37 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX34 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX30 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30. Mode of pathogenicity for gene DHX30 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DHX16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHRS3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHPS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS. Mode of pathogenicity for gene DHPS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DHFR | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHDDS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS. Mode of pathogenicity for gene DHDDS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DDX6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6. Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other Publications for gene: DDX6 were updated from to 31422817 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DDX59 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59. Mode of pathogenicity for gene DDX59 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DDX58 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX54 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX23 |
Achchuthan Shanmugasundram gene: DDX23 was added gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX23 were set to 33057194 Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DDX23 was set to Other |
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| DDG2P v3.11 | DDR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDB1 |
Achchuthan Shanmugasundram gene: DDB1 was added gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDB1 were set to 33743206 Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: DDB1 was set to Other |
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| DDG2P v3.11 | DARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DAG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DAG1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DACT1 |
Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene DACT1 was changed from to Other Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444 |
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| DDG2P v3.11 | CYP1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064 |
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| DDG2P v3.11 | CYFIP2 |
Achchuthan Shanmugasundram gene: CYFIP2 was added gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327 Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Mode of pathogenicity for gene: CYFIP2 was set to Other |
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| DDG2P v3.11 | CYC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CUX2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2. Mode of pathogenicity for gene CUX2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CSNK2A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK2A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CSNK1G1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBB3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBA4 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4. Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder Mode of pathogenicity for gene: CRLS1 was set to Other |
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| DDG2P v3.11 | CRKL | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRELD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CRELD1. Mode of pathogenicity for gene CRELD1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CRADD |
Achchuthan Shanmugasundram Source Expert Review Red was added to CRADD. Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CPSF3 |
Achchuthan Shanmugasundram gene: CPSF3 was added gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPSF3 were set to 35121750 Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly Mode of pathogenicity for gene: CPSF3 was set to Other |
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| DDG2P v3.11 | COX10 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889 |
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| DDG2P v3.11 | COQ5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COQ5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COPB1 |
Achchuthan Shanmugasundram gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other |
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| DDG2P v3.11 | COMP |
Achchuthan Shanmugasundram Source Expert Review Red was added to COMP. Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | COL6A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A3BP | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL1A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653 |
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| DDG2P v3.11 | COL11A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962 |
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| DDG2P v3.11 | COL10A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409 |
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| DDG2P v3.11 | CNOT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT1. Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CLPP |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP. Mode of pathogenicity for gene CLPP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CLP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLP1. Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CLIC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLDN5 |
Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLDN5 were set to 35714222 Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder Mode of pathogenicity for gene: CLDN5 was set to Other |
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| DDG2P v3.11 | CLDN19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLCN6 |
Achchuthan Shanmugasundram gene: CLCN6 was added gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327 Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder Mode of pathogenicity for gene: CLCN6 was set to Other |
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| DDG2P v3.11 | CLCN4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4. Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CIT |
Achchuthan Shanmugasundram Source Expert Review Green was added to CIT. Mode of pathogenicity for gene CIT was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CHRNB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2. Mode of pathogenicity for gene CHRNB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CHRNA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRNA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2. Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CHRM1 |
Achchuthan Shanmugasundram gene: CHRM1 was added gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRM1 were set to 34212451 Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability Mode of pathogenicity for gene: CHRM1 was set to Other |
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| DDG2P v3.11 | CHD3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3. Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CFL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2. Mode of pathogenicity for gene CFL2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CDON | Achchuthan Shanmugasundram Mode of pathogenicity for gene CDON was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK19 |
Achchuthan Shanmugasundram gene: CDK19 was added gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK19 were set to 32330417 Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy Mode of pathogenicity for gene: CDK19 was set to Other |
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| DDG2P v3.11 | CDK13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965 |
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| DDG2P v3.11 | CDH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2. Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CDH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CDH1 was changed from Other - please provide details in the comments to Other Publications for gene: CDH1 were updated from 100000 to 100000; 29348693 |
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| DDG2P v3.11 | CDC42 |
Achchuthan Shanmugasundram gene: CDC42 was added gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42 were set to 26708094; 29394990; 26386261 Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder Mode of pathogenicity for gene: CDC42 was set to Other |
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| DDG2P v3.11 | CDC40 |
Achchuthan Shanmugasundram gene: CDC40 was added gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Mode of pathogenicity for gene: CDC40 was set to Other |
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| DDG2P v3.11 | CCND2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CCND2 was changed from Other - please provide details in the comments to Other Publications for gene: CCND2 were updated from to 24705253 |
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| DDG2P v3.11 | CCDC22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22. Mode of pathogenicity for gene CCDC22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CBL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386 |
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| DDG2P v3.11 | CAPRIN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1. Mode of pathogenicity for gene CAPRIN1 was changed from to Other Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CAMK2G |
Achchuthan Shanmugasundram gene: CAMK2G was added gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2G were set to 23033978; 30184290 Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 Mode of pathogenicity for gene: CAMK2G was set to Other |
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| DDG2P v3.11 | CACNA2D1 |
Achchuthan Shanmugasundram gene: CACNA2D1 was added gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D1 were set to 35293990 Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder Mode of pathogenicity for gene: CACNA2D1 was set to Other |
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| DDG2P v3.11 | CACNA1H | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1E | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A. Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | C1QBP |
Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP. Mode of pathogenicity for gene C1QBP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | C12orf57 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57. Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | BSN |
Achchuthan Shanmugasundram gene: BSN was added gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BSN were set to 36600631 Phenotypes for gene: BSN were set to BSN-related epilepsy Mode of pathogenicity for gene: BSN was set to Other |
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| DDG2P v3.11 | BRAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262 |
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| DDG2P v3.11 | BICD2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BHLHA9 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284 |
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| DDG2P v3.11 | BFSP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BCORL1 |
Achchuthan Shanmugasundram gene: BCORL1 was added gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome Mode of pathogenicity for gene: BCORL1 was set to Other |
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| DDG2P v3.11 | BAP1 |
Achchuthan Shanmugasundram gene: BAP1 was added gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAP1 were set to 35051358 Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: BAP1 was set to Other |
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| DDG2P v3.11 | BANF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1. Mode of pathogenicity for gene BANF1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | B3GAT3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene B3GAT3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AXIN1 |
Achchuthan Shanmugasundram Mode of inheritance for gene AXIN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene AXIN1 was changed from Other - please provide details in the comments to Other |
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| DDG2P v3.11 | ATP8A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528 |
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| DDG2P v3.11 | ATP6V1E1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1. Mode of pathogenicity for gene ATP6V1E1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATP6V1B2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2. Mode of pathogenicity for gene ATP6V1B2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATP6V1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1A. Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATP6V0A1 |
Achchuthan Shanmugasundram gene: ATP6V0A1 was added gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224 Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ATP6V0A1 was set to Other |
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| DDG2P v3.11 | ATP6AP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP5D |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5D. Mode of pathogenicity for gene ATP5D was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATP5A1 |
Achchuthan Shanmugasundram gene: ATP5A1 was added gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069 Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Mode of pathogenicity for gene: ATP5A1 was set to Other |
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| DDG2P v3.11 | ATP1A3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP1A3 was changed from Other - please provide details in the comments to Other Publications for gene: ATP1A3 were updated from 22842232 to 33880529; 22842232 |
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| DDG2P v3.11 | ATP1A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP1A1. Mode of pathogenicity for gene ATP1A1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATOH7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1. Mode of pathogenicity for gene ATN1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATG4D |
Achchuthan Shanmugasundram gene: ATG4D was added gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG4D were set to 36765070 Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder Mode of pathogenicity for gene: ATG4D was set to Other |
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| DDG2P v3.11 | ASH1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L. Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ASCL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASCC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARPC4 |
Achchuthan Shanmugasundram gene: ARPC4 was added gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay Mode of pathogenicity for gene: ARPC4 was set to Other |
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| DDG2P v3.11 | ARL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARL14EP | Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARF3 |
Achchuthan Shanmugasundram gene: ARF3 was added gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF3 were set to 36369169 Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder Mode of pathogenicity for gene: ARF3 was set to Other |
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| DDG2P v3.11 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF1 were set to 33057194; 28868155; 34353862 Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Mode of pathogenicity for gene: ARF1 was set to Other |
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| DDG2P v3.11 | AP2S1 |
Achchuthan Shanmugasundram gene: AP2S1 was added gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2S1 were set to 33057194 Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AP2S1 was set to Other |
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| DDG2P v3.11 | AP2M1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1. Mode of pathogenicity for gene AP2M1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ANKRD26 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ANKRD26. Mode of pathogenicity for gene ANKRD26 was changed from Other - please provide details in the comments to Other Publications for gene: ANKRD26 were updated from 21211618; 10521306 to 10521306; 21211618 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ALPL | Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALG13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13. Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ALDOA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869 |
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| DDG2P v3.11 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other |
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| DDG2P v3.11 | ALAD |
Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD. Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | AKT3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3. Mode of pathogenicity for gene AKT3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | AKT2 |
Achchuthan Shanmugasundram gene: AKT2 was added gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934 Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 Mode of pathogenicity for gene: AKT2 was set to Other |
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| DDG2P v3.11 | AKT1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene AKT1 was changed from Other - please provide details in the comments to Other Publications for gene: AKT1 were updated from 21793738; 22876373 to 22876373; 21793738 |
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| DDG2P v3.11 | AIFM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1. Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | AGPS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941 |
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| DDG2P v3.11 | AGO1 |
Achchuthan Shanmugasundram gene: AGO1 was added gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AGO1 were set to 35060114 Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AGO1 was set to Other |
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| DDG2P v3.11 | AFF4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene AFF4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AFF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3. Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ADSL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474 |
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| DDG2P v3.11 | ADRA2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene ADRA2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADK | Achchuthan Shanmugasundram Mode of pathogenicity for gene ADK was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADCY5 |
Achchuthan Shanmugasundram gene: ADCY5 was added gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ADCY5 was set to Other |
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| DDG2P v3.11 | ADARB1 |
Achchuthan Shanmugasundram gene: ADARB1 was added gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Mode of pathogenicity for gene: ADARB1 was set to Other |
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| DDG2P v3.11 | ADAMTS9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9. Mode of pathogenicity for gene ADAMTS9 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ACVR2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACVR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1. Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ACTG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTG1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACTA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other Publications for gene: ACTA2 were updated from to 35567597 |
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| DDG2P v3.11 | ACTA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1. Mode of pathogenicity for gene ACTA1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ACADS | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ABL1. Mode of pathogenicity for gene ABL1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ABCC9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABCB7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABCB6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | SLC22A5 | Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4. Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects." Sources: Literature |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka gene: AMOTL1 was added gene: AMOTL1 was added to DDG2P. Sources: Other Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to PMID: 36751037 Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature Mode of pathogenicity for gene: AMOTL1 was set to Other Review for gene: AMOTL1 was set to GREEN Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other |
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| DDG2P v2.76 | HYDIN | Dmitrijs Rots reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | CLTC | Anna de Burca reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 29100083; Phenotypes: Developmental & epileptic encephalopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | EMC1 | Dmitrijs Rots reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | RPGRIP1 | Dmitrijs Rots reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | DSPP | Dmitrijs Rots reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | BFSP2 | Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.73 | ACO2 | Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.65 | ANO5 | Sarah Leigh reviewed gene: ANO5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.65 | ALPL | Sarah Leigh reviewed gene: ALPL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | MYH6 | Dmitrijs Rots reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TERC | Dmitrijs Rots reviewed gene: TERC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | RMRP | Dmitrijs Rots reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | COL6A1 | Dmitrijs Rots reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy, Ulrich myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PMS2 | Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | AR | Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | RASA1 | Dmitrijs Rots reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | CNKSR2 | Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | PHF6 | Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | EDNRB | Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: 7778600, 11891690; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | RAB11A | Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | CRYBB1 | Ivone Leong reviewed gene: CRYBB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | KPNA3 |
Dmitrijs Rots gene: KPNA3 was added gene: KPNA3 was added to DDG2P. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 Sources: Literature |
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| DDG2P v2.50 | PLCB4 | Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | ATN1 | Dmitrijs Rots reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.46 | GRIK2 | Ivone Leong reviewed gene: GRIK2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.32 | ATP6V1A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.31 | ATP6V1A | Arina Puzriakova reviewed gene: ATP6V1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.30 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.29 | DMPK | Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.19 | CLP1 | Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.10 | RINT1 | Dmitrijs Rots reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: liver failure, short stature, skeletal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | ABCC9 | Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.171 | KDM6B | Rebecca Foulger Mode of pathogenicity for gene: KDM6B was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.159 | COMP | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorers: dominant negative ; to: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | WDR4 | Rebecca Foulger reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | WDFY3 | Rebecca Foulger reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | TPRKB | Rebecca Foulger reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | TP53RK | Rebecca Foulger reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | SMPD4 | Rebecca Foulger reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | NUP133 | Rebecca Foulger reviewed gene: NUP133: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | NPM1 | Rebecca Foulger reviewed gene: NPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MYRF | Rebecca Foulger reviewed gene: MYRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | METTL5 | Rebecca Foulger reviewed gene: METTL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MESD | Rebecca Foulger reviewed gene: MESD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MAB21L1 | Rebecca Foulger reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | LINGO1 | Rebecca Foulger reviewed gene: LINGO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | LAGE3 | Rebecca Foulger reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KIF14 | Rebecca Foulger reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KCNT2 | Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KCNA4 | Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | GRIA4 | Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||