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Prepair 1000+ v2.0 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2156 POLR1D Zornitza Stark reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2 MIM#613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2154 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Spastic paraplegia 83, autosomal recessive MIM#619027; Leigh syndrome MONDO:0009723
Prepair 1000+ v1.2130 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 8, autosomal MIM#617205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2114 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2080 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2069 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2068 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2067 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive MIM# 268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2062 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RD3 Zornitza Stark reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2059 RAG1 Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2058 PYCR1 Zornitza Stark reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB MIM#612940, Cutis laxa, autosomal recessive, type IIIB MIM#614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2056 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2055 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2050 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2046 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2045 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.2044 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2029 OSGEP Zornitza Stark reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1991 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1970 LIPC Zornitza Stark reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1967 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1944 ITK Zornitza Stark reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1943 INVS Zornitza Stark reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1938 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1930 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1919 FYCO1 Zornitza Stark reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1913 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1901 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215, XFE progeroid syndrome, MIM# 610965 MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1899 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1896 AGK Zornitza Stark reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1873 PLAA Lilian Downie Phenotypes for gene: PLAA were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527
Prepair 1000+ v1.1870 POLR3B Lilian Downie Mode of pathogenicity for gene: POLR3B was changed from to None
Prepair 1000+ v1.1868 POLR3B Karina Sandoval reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961, 33417887; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLCE1 Karina Sandoval reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3,MIM#610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLAA Karina Sandoval reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PIGN Karina Sandoval reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 33528536, 38693247, 36322149; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PEX5 Karina Sandoval reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21031596, 7719337, 26220973, 20301621; Phenotypes: Peroxisome Biogenesis Disorder, MONDO:0019234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 DNAH5 Andrew Coventry reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867, 11788826, 40033371; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 CSPP1 Andrew Coventry reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21 MIM#615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 WNT10B Andrew Coventry reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 16688749, 29427788, 24211389, 38058757, 39310870; Phenotypes: Split-hand/foot malformation 6 MIM#225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 VARS Andrew Coventry reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004, 30755616; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTPA Andrew Coventry reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 7719340; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTI2 Andrew Coventry reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Intellectual developmental disorder, autosomal recessive 39 MIM#615541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRPM6 Andrew Coventry reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35903165, 18818955; Phenotypes: Hypomagnesemia 1, intestinal MIM#602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRIM32 Andrew Coventry reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: None; Publications: 9634523, 10399877, 17994549, 25351777, 19492423, 19303295, 31309175; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 STRA6 Andrew Coventry reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8 MIM#601186, Microphthalmia, syndromic 9 MIM#601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SPR Andrew Coventry reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 26131547, 33903016, 31777525, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SP110 Andrew Coventry reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 16648851, 23448538, 22621957, 32395362; Phenotypes: Hepatic venoocclusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC37A4 Andrew Coventry reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240, Glycogen Storage Disease I MONDO:0002413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC12A5 Andrew Coventry reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34 MIM#616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23B Andrew Coventry reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418, 26522472, 27471141, 37373084; Phenotypes: Dyserythropoietic anemia, congenital, type II MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RNASET2 Andrew Coventry reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RNASEH2A Andrew Coventry reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648, 29239743, 16845400, 24183309, 35551623; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333, RNASEH2A-related type 1 interferonopathy MONDO:0700259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RARB Andrew Coventry reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12 MIM#615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RAB23 Andrew Coventry reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome MIM#201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PUS7 Andrew Coventry reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274, 35144859; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MIM#618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PPIB Andrew Coventry reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX MIM#259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPA1 Cassandra Muller reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25012220; Phenotypes: Behr syndrome, 210000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDP1 Karina Sandoval reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260, 31392110, 19184109; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency,MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NUBPL Cassandra Muller reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR2E3 Cassandra Muller reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825, 23562752; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NDUFS4 Cassandra Muller reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NDE1 Cassandra Muller reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988, 21529751, 34562061; Phenotypes: Lissencephaly 4 (with microcephaly), 614019 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MMP2 Cassandra Muller reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAH Karina Sandoval reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 3008810, 31636599, 32141105; Phenotypes: Phenylketonuria,MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OTUD6B Karina Sandoval reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPN1LW Karina Sandoval reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: 25168334, 32860923, 8213841; Phenotypes: Blue cone monochromacy,MIM#303700, Colorblindness, protan,MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 MED12 Melanie Marty reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166, 32174975, 30006928, 27312080; Phenotypes: MED12-related intellectual disability syndrome, MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 HYLS1 Melanie Marty reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 39626953, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FHL1 Melanie Marty reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672, 21310615, 40017287; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 MFN2 Melanie Marty reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDE6B Melanie Marty reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872, 33673512; Phenotypes: Retinitis pigmentosa-40, MIM#613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SCN9A Melanie Marty reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18060017; Phenotypes: Insensitivity to pain, congenital, MIM# 243000, Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PNPLA6 Andrew Coventry reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38735647, 25480986, 33818269, 32758583, 30097146; Phenotypes: Boucher-Neuhauser syndrome MIM#215470, Oliver-McFarlane syndrome MIM#275400, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAK3 Andrew Coventry reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 24556213, 25666757, 27753653, 28481730, 28126652; Phenotypes: Intellectual developmental disorder, X-linked 30 MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NAGA Andrew Coventry reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Schindler disease, type I MIM#609241, Schindler disease, type III MIM#609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23A Melanie Marty changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with CLSD and a het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with CLSD and a de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain
Prepair 1000+ v1.1868 SEC23A Melanie Marty reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, PMID: 38275611; Phenotypes: Craniolenticulosutural dysplasia, MIM#607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MUSK Andrew Coventry reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1 MIM#208150, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTTP Andrew Coventry reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinemia MIM#200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTHFD1 Andrew Coventry reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MIM#617780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MKS1 Andrew Coventry reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Bardet-Biedl syndrome 13 MIM#615990, Joubert syndrome 28 MIM#617121, Meckel syndrome 1 MIM#249000, Ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MBTPS2 Andrew Coventry reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19361614, 27380894, 34902613, 14708109, 22105905, 24313295, 19689518, 24090718, 21600032; Phenotypes: IFAP syndrome with or without BRESHECK syndrome MIM#308205, Osteogenesis imperfecta, type XIX MIM#301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 LYST Andrew Coventry reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517; Phenotypes: Chediak-Higashi syndrome MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LRMDA Andrew Coventry reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 37053367, 23395477, 38555393; Phenotypes: Albinism, oculocutaneous, type VII MIM#615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LARS2 Andrew Coventry reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia MIM#617021, Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIF7 Andrew Coventry reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 36580738, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Al-Gazali-Bakalinova syndrome MIM#607131, Hydrolethalus syndrome 2 MIM#614120, Acrocallosal syndrome MIM#200990, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIAA1109 Andrew Coventry reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834, 25558065; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KCNV2 Andrew Coventry reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291, 15722315, 30820446, 21882291, 23115240; Phenotypes: Inherited retinal dystrophy MONDO:0019118, Retinal cone dystrophy 3B MIM#610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 INPP5K Andrew Coventry reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IFT172 Andrew Coventry reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 26763875, 25168386, 24140113, 25168386; Phenotypes: Bardet-Biedl syndrome 20 MIM#619471, Retinitis pigmentosa 71 MIM#616394, Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IBA57 Andrew Coventry reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 25609768, 28913435, 28671726, 30258207; Phenotypes: Mitochondrial disease MONDO:0044970, Multiple mitochondrial dysfunctions syndrome 3 MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HSPD1 Andrew Coventry reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4 MIM#612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HPS3 Andrew Coventry reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3 MIM#614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HAMP Andrew Coventry reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 12490283, 34828384, 15198949; Phenotypes: Hemochromatosis, type 2B MIM#613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HADH Andrew Coventry reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 1835339, 10347277, 10931422; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GLDN Andrew Coventry reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266, 35806855; Phenotypes: Lethal congenital contracture syndrome 11 MIM#617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GBA Andrew Coventry reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal MIM#608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FTSJ1 Andrew Coventry reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 FRAS1 Andrew Coventry reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281, 16894541, 17163535; Phenotypes: Fraser syndrome 1 MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FKBP14 Andrew Coventry reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FGD4 Andrew Coventry reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957, 17564972; Phenotypes: Charcot-Marie-Tooth disease, type 4H MIM#609311, Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCL Andrew Coventry reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012, 12973351, 31513304; Phenotypes: Fanconi anemia, complementation group L MIM#614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCD2 Andrew Coventry reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301575, 17436244, 25703294, 23613520; Phenotypes: Fanconi anemia, complementation group D2 MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FAM20C Andrew Coventry reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 EIF2B3 Andrew Coventry reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 CHMP1A Andrew Coventry gene: CHMP1A was added
gene: CHMP1A was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333; 37789895
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8 MIM#614961
Review for gene: CHMP1A was set to AMBER
Added comment: Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterised by severe psychomotor impediment, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.

Zebrafish model present.
PMID: 23023333 - Three families reported, 2 variants; two families likely with founder effect.
PMID: 37789895 - describe novel variants in an affected individual, one is deletion of exon 1, other is c.53 T > C (p.Leu18Pro).
Total 4 families now reported with 4 variants.
Sources: Literature
Prepair 1000+ v1.1868 POLR1D Andrew Coventry gene: POLR1D was added
gene: POLR1D was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR1D were set to 21131976; 24603435; 27448281; 25790162
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 MIM#613717
Review for gene: POLR1D was set to AMBER
Added comment: Treacher Collins syndrome is a disorder of craniofacial development characterised by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Currently, only one study reporting AR TCS, 1 pathogenic variant in 4 affected individuals, across 2 unrelated consanguineous families. PMID: 24603435.
Adding gene, requiring further evidence in humans for consideration for inclusion in screening of AR TCS.
Sources: Literature
Prepair 1000+ v1.1868 NUP107 Karina Sandoval reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 28280135, 28117080, 30179222, 25558065, 26411495; Phenotypes: Galloway-Mowat syndrome 7, MIM#618348, Nephrotic syndrome, type 11, MIM#616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR0B1 Karina Sandoval reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital, MIM#300200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NDUFV2 Karina Sandoval reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MAPKBP1 Karina Sandoval reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 COL11A2 Melanie Marty reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1863 OSTM1 Zornitza Stark reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Prepair 1000+ v1.1826 FITM2 Melanie Marty reviewed gene: FITM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28067622, 30214770, 30288795, 28067622, 35754111; Phenotypes: Siddiqi syndrome, MIM#618635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 ABCB11 Melanie Marty reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC1A4 Melanie Marty reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SETX Melanie Marty reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RPGRIP1L Melanie Marty reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Ciliopathy, RPGRIP1L-related, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAD50 Melanie Marty reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377, 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAB27A Melanie Marty reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 QDPR Melanie Marty reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PUS1 Melanie Marty reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRX Melanie Marty reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRDM12 Melanie Marty reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 VPS33B Michelle Torres reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31479177, 30561130, 28017832; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085, Cholestasis, progressive familial intrahepatic, 12 MIM#620010, Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PPA2 Melanie Marty reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, infantile, MIM#617222, Sudden cardiac failure, alcohol-induced, MIM#617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 POC1A Melanie Marty reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PGAP1 Melanie Marty reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PEX7 Melanie Marty reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 TCIRG1 Michelle Torres reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1 MIM#259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 TBC1D23 Michelle Torres reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11 MIM#617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SRD5A3 Michelle Torres reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323, 20301507; Phenotypes: Congenital disorder of glycosylation, type Iq MIM#612379, Kahrizi syndrome#612713, SRD5A3-congenital disorder of glycosylation (MONDO:0012885); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC39A8 Michelle Torres reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37023243, 26637978, 26637979, 29453449; Phenotypes: Congenital disorder of glycosylation, type IIn MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCDH15 Melanie Marty reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCCA Melanie Marty reviewed gene: PCCA: Rating: ; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia, MIM#606054; Mode of inheritance: None
Prepair 1000+ v1.1822 OSTM1 Melanie Marty reviewed gene: OSTM1: Rating: ; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NEB Melanie Marty reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRIT1 Michelle Torres reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36047296, 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35 MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WISP3 Michelle Torres reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26610319; Phenotypes: Progressive pseudorheumatoid dysplasia MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WDR35 Michelle Torres reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2 MIM#613610, Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NDP Melanie Marty reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23444378, 8268931, 17325173, 27217716, 29181528, 31827910; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1822 NCF2 Melanie Marty reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27178966, 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MYD88 Melanie Marty reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MSTO1 Melanie Marty reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MICU1 Melanie Marty reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 VIPAS39 Michelle Torres reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRMT10A Michelle Torres reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1 MIM#616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC12 Michelle Torres reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SCNN1B Crystle Lee reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26807262; Phenotypes: Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC11 Michelle Torres reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 38564972; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM#615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC30A10 Crystle Lee reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38283630, 34877518, 22341971; Phenotypes: Hypermanganesemia with dystonia 1, MIM#613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC7A7 Crystle Lee reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17764084; Phenotypes: Lysinuric protein intolerance, MIM#222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 STIM1 Crystle Lee reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 20876309, 25935105; Phenotypes: Immunodeficiency 10, MIM#612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRSAM1 Melanie Marty reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 38330802, 33568173; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500, Spinocerebellar ataxia, autosomal recessive 7 MIM#609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TOE1 Michelle Torres reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684, 36738896; Phenotypes: Pontocerebellar hypoplasia, type 7 MIM#614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LONP1 Melanie Marty reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, MIM#600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TBC1D20 Michelle Torres reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4 MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 XYLT2 Michelle Torres reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34925453, 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM#605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 XRCC4 Michelle Torres reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MLC1 Kate Scarff reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 20301707, 29661901; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 USH1G Michelle Torres reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301442; Phenotypes: Usher syndrome, type 1G MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 METTL23 Kate Scarff reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24501276, 24626631, 39152716, 32878022, 32439618, 32067349; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM #615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 UBE3B Michelle Torres reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109, 27763745; Phenotypes: Kaufman oculocerebrofacial syndrome MIM#244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MEGF10 Kate Scarff reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22101682, 22371254, 39654599, 36349186, 35370044, 34828389; Phenotypes: Congenital myopathy 10A, severe variant, MIM #614399, Congenital myopathy 10B, mild variant, MIM #620249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRAT Kate Scarff reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11381255, 18055821, 22570351, 29973277, 24625443, 31448181; Phenotypes: Retinal dystrophy, early-onset severe, Leber congenital amaurosis 14, Retinitis pigmentosa, juvenile, all under MIM #613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1820 LMBR1 Kate Scarff reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11090342, 10780921, 33863876; Phenotypes: Acheiropody, MIM #200500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1818 LAMC2 Kate Scarff reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32017015, 11810295, 24533970, 20301304; Phenotypes: Epidermolysis bullosa, junctional 3B, severe MIM #619786, Epidermolysis bullosa, junctional 3A, intermediate MIM #619785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1818 TSPAN7 Michelle Torres reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26350204, 36625203; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1815 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1811 CASK Andrew Coventry reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 12522552, 19377476, 20029458, 28139025, 28944139; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 BRWD3 Andrew Coventry reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93 MIM#300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 OTULIN Andrew Coventry reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27523608, 27559085, 30796585, 35170849; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1811 PDHX Andrew Coventry gene: PDHX was added
gene: PDHX was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 34873726; 33092611; 30981218; 25087164; 22766002; 12557299; 14518830; 15303005; 16566017; 27343776
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349; Mitochondrial disease MONDO:0044970
Review for gene: PDHX was set to GREEN
Added comment: Established gene-disease association.
Clingen definitive for mitochondrial disease: "While various names have been given to the constellation of features seen in those with PDHX-related disorders, including pyruvate dehydrogenase complex deficiency or PDCD, pathogenic variants in this gene ultimately cause a primary mitochondrial disease. Therefore, the PDHX phenotype has been lumped into one disease entity according to the ClinGen Lumping and Splitting Framework."

Condition is a metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake.

Clingen: Age of onset ranges from the first days of life to later in childhood, with some individuals living well into adulthood. Clinical features in affected individuals include neonatal lactic acidosis, LSS, seizures, spasticity, agenesis of the corpus callosum, cerebral atrophy, vomiting, and optic atrophy.

Note:
PDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant;
c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.
Sources: Literature
Prepair 1000+ v1.1808 CBS Zornitza Stark reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1676 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome MIM#302350; Mode of inheritance: None
Prepair 1000+ v1.1662 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1648 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1627 HPD Zornitza Stark reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29456978; Phenotypes: Tyrosinemia, type III, MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1596 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28442542; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1596 PEX1 Kate Scarff changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.

MONDO:0100259 - Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
Prepair 1000+ v1.1596 PEX1 Kate Scarff changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? Should this phenotype be included for P1000?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000. See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.
Prepair 1000+ v1.1586 ZNF335 Lauren Thomas reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 38549403, 27540107, 29652087, 34982360; Phenotypes: Microcephaly 10, primary, autosomal recessive, MIM# 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 XPNPEP3 Lauren Thomas reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 WDR73 Lauren Thomas reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1, MIM# 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 VPS13B Lauren Thomas reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37692084, 19533689, 29758347, 19006247; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 ITGA6 Lauren Rogers reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 IER3IP1 Lauren Rogers reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HMGCL Lauren Rogers reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HBB Lauren Rogers reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 SAMD9 Andrew Coventry reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 37830462; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1576 HADHA Lauren Rogers reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency 1 MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1573 GNPTG Lauren Rogers reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764:19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FLVCR2 Lauren Rogers reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DLAT Andrew Coventry gene: DLAT was added
gene: DLAT was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066
Phenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348
Review for gene: DLAT was set to GREEN
Added comment: Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis).
Biochemical function, expression data, and model systems available.

1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition.

PMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus,
Male patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition.
Male patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk.
PMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability.
PMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency.

At least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1.
Sources: Literature
Prepair 1000+ v1.1568 UNC80 Lauren Thomas reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708753, 26708751, 30167850, 30771478; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TNNT1 Lauren Thomas reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26296490, 31604653, 10952871, 24689076; Phenotypes: Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355, Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TMEM5 Lauren Thomas reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 23217329; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 OXCT1 Andrew Coventry reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30799594, 20652411, 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 APC2 Andrew Coventry gene: APC2 was added
gene: APC2 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Definitive classification by ClinGen.
Mouse model present.

Note: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features
Sources: Literature
Prepair 1000+ v1.1568 LIPA Karina Sandoval reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374935, 11487567, 8617513, 21963785; Phenotypes: Wolman disease, MIM#620151, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 LIFR Karina Sandoval reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9674905, 9674906, 14740318, 24988918, 35663789, 20447141, 29620724, 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 L1CAM Karina Sandoval reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280, 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: MASA syndrome, MIM#303350, Hydrocephalus, congenital, X-linked, MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1568 KDM5C Karina Sandoval reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM#300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1568 IQSEC2 Karina Sandoval reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175, 31415821, 30842726; Phenotypes: Intellectual developmental disorder, X-linked 1, MIM#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)
Prepair 1000+ v1.1568 IGF1R Karina Sandoval reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944, 14657428, 25040157, 23045302, 26252249, 15928254, 22130793, 17264177; Phenotypes: Insulin-like growth factor I, resistance to, MIM#270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HOGA1 Karina Sandoval reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: 20797690, 21896830, 22391140, 36688940; Phenotypes: Hyperoxaluria, primary, type III, MIM#613616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HMGCS2 Karina Sandoval reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9337379, 23751782, 33045405, 32470406, 32259399, 16601895; Phenotypes: HMG-CoA synthase-2 deficiency, MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HEXA Karina Sandoval reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388111, 20301397; Phenotypes: Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GUCY2C Karina Sandoval reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM#614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GPR179 Karina Sandoval reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, MIM#614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GJC2 Karina Sandoval reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381, 15192806, 18094336, 22669416, 24374284, 15192806; Phenotypes: Leukodystrophy, hypomyelinating, 2, MIM#608804; Mode of inheritance: None
Prepair 1000+ v1.1568 GAA Karina Sandoval reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701, 29880332; Phenotypes: Glycogen storage disease II, MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 EIF2AK4 Karina Sandoval reviewed gene: EIF2AK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24135949, 24292273; Phenotypes: Pulmonary venoocclusive disease 2, MIM#234810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DYNC2H1 Karina Sandoval reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734, 31730820, 32753734; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAJC6 Karina Sandoval reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693, 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAJC21 Karina Sandoval reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3, MIM#617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAAF4 Karina Sandoval reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM#615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DHCR24 Karina Sandoval reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559, 11519011, 24961299; Phenotypes: Desmosterolosis, MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ZNF469 Cassandra Muller reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 33739556, 37098112, 31496642, 18452888; Phenotypes: Brittle cornea syndrome 1, 229200, (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 XPC Cassandra Muller reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26255934, 8298653; Phenotypes: Xeroderma pigmentosum, group C, 278720 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 WRAP53 Cassandra Muller reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 29514627, 32303682; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, 613988 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FERMT3 Melanie Marty reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 19064721; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FBP1 Melanie Marty reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FANCA Melanie Marty reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAM126A Melanie Marty reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAH Melanie Marty reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ERCC5 Melanie Marty reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TTN Andrew Coventry reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145747, 17444505, 3975875, 24105469, 24395473, 25772186, 26392295, 26581302, 27796757, 28040389, 29575618, 29691892, 31660661; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 AMN Andrew Coventry reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326, 27604308; Phenotypes: Imerslund-Grasbeck syndrome 2 MIM#618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DBR1 Andrew Coventry reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279, 29474921, 38325642; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510, Viral infections of the brainstem, Ichthyosis (MONDO#0019269); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HPDL Andrew Coventry reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300, 33634263, 33970200, 18853439; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026, Spastic paraplegia 83, autosomal recessive MIM#619027, Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 SCN1B Andrew Coventry reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36291443, 31709768, 19710327, 23148524, 28218389, 33901312; Phenotypes: Developmental and epileptic encephalopathy 52 MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 USH2A Cassandra Muller reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20507924, 9624053, 15015129, 20301515, 36041150, 34331125; Phenotypes: Usher syndrome, type 2A, 276901 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 UFM1 Cassandra Muller reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TYMP Cassandra Muller reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM237 Cassandra Muller reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675, 22152675; Phenotypes: Joubert syndrome 14, 614424 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM231 Cassandra Muller reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, 614970, (3), Meckel syndrome 11, 615397 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM165 Cassandra Muller reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, 614727 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SPINT2 Cassandra Muller reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30445423, 19185281; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMPD1 Cassandra Muller reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26499107; Phenotypes: Niemann-Pick disease, type A, 257200 (3), Niemann-Pick disease, type B, 607616 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 MCM4 Kate Scarff reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC6A8 Cassandra Muller reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326334, 11898126, 15154114, 17101918, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352 (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 LTBP4 Kate Scarff reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26866239, 22829427, 19836010; Phenotypes: Cutis laxa, autosomal recessive, type IC, #613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A3 Cassandra Muller reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331, 26976849, 29053833, 25462087; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LTBP3 Kate Scarff reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38192829, 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM #601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LRP2 Kate Scarff reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512, 20301732; Phenotypes: Donnai-Barrow syndrome, MIM #222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LRIG2 Kate Scarff reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23313374, 30885509, 23967498; Phenotypes: Urofacial syndrome 2, MIM #615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LAMA1 Kate Scarff reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24013853, 25105227, 26932191; Phenotypes: Poretti-Boltshauser syndrome, MIM #615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 IVD Kate Scarff reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38484105, 15486829; Phenotypes: Isovaleric acidemia, MIM #243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TJP2 Lauren Thomas reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBX19 Lauren Thomas reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, MIM# 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 ST3GAL5 Lauren Thomas reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691927, 27232954; Phenotypes: Salt and pepper developmental regression syndrome, MIM# 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SPATA5 Lauren Thomas reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29343804, 26299366, 27246907; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMARCAL1 Lauren Thomas reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31275356, 29282041, 18356746; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A2 Lauren Thomas reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26973221, 22864630, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC4A1 Lauren Thomas reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044, 10926824; Phenotypes: Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SKIV2L Lauren Thomas reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 34414925, 25714577; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SEPSECS Lauren Thomas reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 29464431, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SELENON Lauren Thomas reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 32796131, 11528383, 32154989; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SCNN1A Lauren Thomas reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23416952, 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 RSPH4A Lauren Thomas reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200523, 23993197, 23798057, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11, MIM# 612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PTPN23 Lauren Thomas reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PSPH Lauren Thomas reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26589312, 27161889, 26960553; Phenotypes: Phosphoserine phosphatase deficiency , MIM# 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PPT1 Lauren Thomas reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 31741823, 19793312; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 POMT2 Lauren Thomas reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923109, 24183756, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, MIM# 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 POLR3A Lauren Thomas reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490, 21855841, 38561452; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PLOD1 Lauren Thomas reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34161861, 33579342; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PLEC Lauren Thomas reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28447722, 25556389, 32576226; Phenotypes: Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487, Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PEX6 Lauren Thomas reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8940266, 22894767; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862, Peroxisome biogenesis disorder-4B, MIM# 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PEPD Lauren Thomas reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32455636, 19308961, 3827281, 36757671, 16470701; Phenotypes: Prolidase deficiency, MIM# 170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OTC Lauren Thomas reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26059767, 31441224, 25135652; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 NT5C2 Lauren Thomas reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32153630, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 NSUN2 Lauren Thomas reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 NLGN4X Lauren Thomas reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 TCN2 Andrew Coventry reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM#275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBCK Andrew Coventry reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STRADA Andrew Coventry reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STAT1 Andrew Coventry reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590259, 16585605, 20841510, 31512162, 27117246, 21772053, 32603902; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796, Immunodeficiency 31B MONDO:0013427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SSR4 Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC26A3 Andrew Coventry reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhea 1, secretory chloride, congenital MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SIL1 Andrew Coventry reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371, 16282978; Phenotypes: Marinesco-Sjogren syndrome MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SERPINH1 Andrew Coventry reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OPHN1 Andrew Coventry reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NHS Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NEK8 Andrew Coventry reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 26697755, 26862157, 26967905, 12421721, 18235101, 23274954, 23793029; Phenotypes: Renal-hepatic-pancreatic dysplasia 2 MIM#615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1528 SLC4A4 Cassandra Muller reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 15085340, 15471865; Phenotypes: Proximal renal tubular acidosis-ocular anomaly syndrome, 604278 (3); Mode of inheritance: None
Prepair 1000+ v1.1522 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER
Prepair 1000+ v1.1512 SLC33A1 Cassandra Muller reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22243965, 27306358, 35999711; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1512 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1508 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1503 ZIC3 Marta Cifuentes Ochoa reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1501 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1497 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN
Prepair 1000+ v1.1493 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1476 WDR81 Marta Cifuentes Ochoa reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 21885617, 33724704; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430, Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
Prepair 1000+ v1.1460 SLC25A1 Cassandra Muller reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 WDR34 Marta Cifuentes Ochoa reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 VRK1 Marta Cifuentes Ochoa reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38554151, 19646678, 21937992, 25609612, 24126608, 27281532, 34169149, 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 USH1C Marta Cifuentes Ochoa reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C MIM# 276904, MONDO:0010171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MKKS Andrew Coventry reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973238, 10973251, 12107442, 20472660, 15770229, 20177705, 28761321, 30718709; Phenotypes: Bardet-Biedl syndrome 6 MIM#605231, McKusick-Kaufman syndrome MIM#236700, MKKS-related ciliopathy MONDO:1040050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A3 Cassandra Muller reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 19387023, 20065143, 23423671; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MFSD2A Andrew Coventry reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30043326, 32572202, 26005865, 26005868; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MED23 Andrew Coventry changed review comment from: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present.; to: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.
Prepair 1000+ v1.1460 MED23 Andrew Coventry reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A2 Cassandra Muller reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 19643445; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 UROS Marta Cifuentes Ochoa reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 24027798, 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MECP2 Andrew Coventry reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1460 UPB1 Marta Cifuentes Ochoa reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 35926322, 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161, MONDO:0013164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC12A1 Cassandra Muller reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TREX1 Marta Cifuentes Ochoa reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33996686, 36814213; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TMTC3 Marta Cifuentes Ochoa reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161, 33293961; Phenotypes: Lissencephaly 8 MIM#617255, MONDO:0014992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TCTN3 Marta Cifuentes Ochoa reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024, 34096792; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, MONDO:0009794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TAT Marta Cifuentes Ochoa reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600, MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SH3PXD2B Cassandra Muller reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 SGO1 Cassandra Muller reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia, 616201 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 LAMC2 Clare Hunt reviewed gene: LAMC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: None
Prepair 1000+ v1.1459 KRT5 Clare Hunt reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31302245, 31312705, 34912369; Phenotypes: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 KNL1 Clare Hunt reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26626498, 22983954, 20598275, 15806441, 27149178; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UQCRC2 Lisa Norbart reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 33865955, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM#615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NHLRC1 Lauren Thomas reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ACSF3 Lisa Norbart reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ABCA4 Lisa Norbart reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 19, MIM#601718, Retinal dystrophy, early-onset severe, MIM#248200, Stargardt disease 1, MIM#248200, Cone-rod dystrophy 3, MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NDUFV1 Lauren Thomas reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WRN Lisa Norbart reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8968742, 20301687; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WAS Lisa Norbart reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12969986, 23689198, 20301357, 34307257; Phenotypes: Neutropenia, severe congenital, X-linked, MIM#300299, Thrombocytopenia, X-linked, MIM#313900, Wiskott-Aldrich syndrome, MIM#301000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 VKORC1 Lisa Norbart reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12704386, 14765194, 24963046, 18315553; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 MYO7A Lauren Thomas reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29400105, 8160750; Phenotypes: Deafness, autosomal recessive 2, MIM# 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UNC13D Lisa Norbart reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 16825436, 17993578, 21881043; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UBA5 Lisa Norbart reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545681, 27545681, 27545674, 32179706, 26872069; Phenotypes: Developmental and epileptic encephalopathy 44, MIM#617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 TYR Lisa Norbart reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868138, 37053367; Phenotypes: Oculocutaneous albinism type 1 (MONDO:0018135), Albinism, oculocutaneous, type IA, MIM#203100, Albinism, oculocutaneous, type IB, MIM#606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 SYN1 Lisa Norbart reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667; Phenotypes: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491, Intellectual developmental disorder, X-linked 50, MIM#300115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TXNL4A Lisa Norbart reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003, 34713892, 28905882; Phenotypes: Burn-McKeown syndrome, MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TULP1 Lisa Norbart reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 17620573, 27440997; Phenotypes: Leber congenital amaurosis 15, MIM#613843, Retinitis pigmentosa 14, MIM#600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TMCO1 Lisa Norbart reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24194475, 20018682, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TELO2 Lisa Norbart reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944240, 27132593; Phenotypes: You-Hoover-Fong syndrome, MIM#616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 POU1F1 Lisa Norbart reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1472057, 15928241, 7593413; Phenotypes: Pituitary hormone deficiency, combined or isolated, 1, MIM#613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SGCB Cassandra Muller reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 KIF1C Clare Hunt reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 17273843, 24482476; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM#611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL1RAPL1 Clare Hunt reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 ITGA3 Kate Scarff reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22512483, 25810266, 23114595, 27717396, 32198874, 26854491, 34492382, 34751145; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PHF8 Clare Hunt reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 PIEZO2 Clare Hunt reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SBDS Cassandra Muller reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12496757, 32412173; Phenotypes: Shwachman-Diamond syndrome, 260400 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ISCA2 Kate Scarff reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 32424628, 39544370, 29470032; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM #616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL17RA Kate Scarff reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21350122, 27930337, 34390440, 26607704; Phenotypes: Immunodeficiency 51, MIM #613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TK2 Michelle Torres reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23230576; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ZC4H2 Michelle Torres reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 ZAP70 Michelle Torres reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNT7A Michelle Torres reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826533, 23922166, 28855715; Phenotypes: Fuhrmann syndrome MIM#228930, Ulna and fibula, absence of, with severe limb deficiency MIM#276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNK1 Michelle Torres reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117, 21089229, 32790646; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II MIM#201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UPF3B Michelle Torres reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 TTC37 Michelle Torres reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC9 Michelle Torres reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30853973; Phenotypes: Intellectual developmental disorder, autosomal recessive 13 MIM#613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC6B Michelle Torres reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PIGV Clare Hunt reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 21739589, 20080219, 29310717, 20802478, 22228761; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRDM5 Clare Hunt reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14679583, 22122778, 21664999, 8458232, 28306229; Phenotypes: Brittle cornea syndrome 2, MIM#614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRKRA Clare Hunt reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 35844281, 18420150; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1440 STUB1 Zornitza Stark reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1419 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1399 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SOST Marta Cifuentes Ochoa reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SMN1 Marta Cifuentes Ochoa reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012, 23788250, 39062735, 29904179, 33531827; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNAP29 Lauren Rogers reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783, 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCA Marta Cifuentes Ochoa reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573, 30989758; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC2A2 Lauren Rogers reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCD Lauren Rogers reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SFTPB Lauren Rogers reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SC5D Lauren Rogers reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERPINF1 Marta Cifuentes Ochoa reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245, 37425194; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982, MONDO:0013515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PXDN Clare Hunt reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21474777, 24939590, 21907015; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM#269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RAB18 Clare Hunt reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473985, 20512159, 23420520, 23176487; Phenotypes: Warburg micro syndrome 3 MIM#614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SBF2 Marta Cifuentes Ochoa reviewed gene: SBF2: Rating: ; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ROGDI Clare Hunt reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 8133980, 22482807; Phenotypes: Kohlschutter-Tonz syndrome MIM#226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RTTN Marta Cifuentes Ochoa reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RPGRIP1 Marta Cifuentes Ochoa reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25414380, 28456785, 24997176, 28559085, 33308271, 31666973, 39669618, 34722527; Phenotypes: Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SAR1B Clare Hunt reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552, 3792776, 18786134; Phenotypes: Chylomicron retention disease MIM#246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SCARF2 Clare Hunt reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23808541, 33783941, 19449421, 35256560, 1609830; Phenotypes: Van den Ende-Gupta syndrome, MIM#600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERAC1 Clare Hunt reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19015156, 23355087, 22683713, 23918762, 28916646, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC35A3 Clare Hunt reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777481, 24031089, 28328131; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures MIM#615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC39A14 Clare Hunt reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 29498153, 27231142, 30232769; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC5A7 Clare Hunt reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNX14 Clare Hunt reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285, 24501761; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 MIM#616354; Mode of inheritance: None
Prepair 1000+ v1.1397 SPART Clare Hunt reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 28679690, 6022528, 20437587; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 STUB1 Clare Hunt reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: 24113144, 24742043; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Mode of inheritance: None
Prepair 1000+ v1.1397 TBCD Clare Hunt reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666374, 27666370, 27807845, 31569255; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TCTN2 Clare Hunt reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 32655147, 33590725, 25118024, 25182137; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TDRD7 Clare Hunt reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 21436445, 28418495; Phenotypes: Cataract 36 MIM#613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TGM1 Clare Hunt reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326318, 10482949, 11298529, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TRIM37 Clare Hunt reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 25470042, 33042106, 17100991, 12754710, 11938494; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UBR1 Clare Hunt reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544, 18553553, 16311597; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UGT1A1 Clare Hunt reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12983120, 37585628, 1734381, 5411133, 9413009; Phenotypes: Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 VPS11 Clare Hunt reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307567, 26307567, 27473128, 11250079, 33452836; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 POMK Lisa Norbart reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX13 Lisa Norbart reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883, Peroxisome biogenesis disorder 11B, MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX12 Lisa Norbart reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859, Peroxisome biogenesis disorder 3B, MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 P3H1 Lisa Norbart reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17277775, 19088120, 27864101, 33737016, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, MIM#610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ORAI1 Lisa Norbart reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 38982518; Phenotypes: Immunodeficiency 9, MIM#612782, Myopathy, tubular aggregate, 2, MIM#615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 NDUFS1 Lisa Norbart reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 NDUFA10 Lisa Norbart reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MYO5B Lisa Norbart reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 27532546; Phenotypes: Cholestasis, progressive familial intrahepatic, 10, MIM#619868, Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MVK Lisa Norbart reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27012807, 16722536; Phenotypes: Mevalonic aciduria, MIM#610377, Hyper-IgD syndrome, MIM#260920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTO1 Lisa Norbart reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM#614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPV17 Lisa Norbart reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MCPH1 Lisa Norbart reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20978018, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM#251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VPS53 Clare Hunt reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM#615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VSX2 Clare Hunt reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 8630490, 17661825, 3378363, 10932181; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 ZDHHC9 Clare Hunt reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1367 LMBRD1 Lisa Norbart reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136951; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 IFT80 Clare Hunt reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LEP Lisa Norbart reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM#614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LDLRAP1 Lisa Norbart reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Familial hypercholesterolemia 4, MIM#603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MUT Lauren Thomas reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTHFR Lauren Thomas reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25024447, 8456826; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPL Lauren Thomas reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 17054430, 16351641, 11133753; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MPI Lauren Thomas reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 32266963, 19101627, 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MASP1 Lauren Thomas reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106, 16096999; Phenotypes: 3MC syndrome 1, MIM# 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MAOA Lauren Thomas reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1357 MAN1B1 Lauren Thomas reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763484, 26279649, 20345473; Phenotypes: Rafiq syndrome, MIM# 614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 LCA5 Lauren Thomas reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10631161, 12642313, 17546029; Phenotypes: Leber congenital amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IL11RA Crystle Lee reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM#614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IFNGR2 Crystle Lee reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18625743, 31497017; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM#614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IARS Crystle Lee reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 HSD17B10 Crystle Lee reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; Phenotypes: HSD10 mitochondrial disease, MIM#300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1348 HOXA1 Crystle Lee reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18412118; Phenotypes: Athabaskan brainstem dysgenesis syndrome, MIM#601536, Bosley-Salih-Alorainy syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1346 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1314 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 POMP Lucy Spencer reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32425927; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WDR62 Kate Scarff reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20890279, 20890278, 20729831, 21496009, 21834044, 22775483, 32677750; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HIBCH Crystle Lee reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762937; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GCDH Crystle Lee reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788423, 37020324; Phenotypes: Glutaric aciduria, type I, MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GBE1 Crystle Lee reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 UBE2A Kate Scarff reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 TYK2 Kate Scarff reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17088085, 26304966, 34569645, 32537443; Phenotypes: Immunodeficiency 35, MIM #611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TUBGCP6 Kate Scarff reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692, 22279524, 39634241, 37927319, 37031378; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC8 Kate Scarff reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM #615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC21B Kate Scarff reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21258341, 25492405, 33875766; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSEN2 Kate Scarff reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23562994, 20952379, 18711368; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM #612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRNT1 Kate Scarff reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25193871, 23553769, 27389523, 29170023; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HES7 Clare Hunt reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HACE1 Clare Hunt reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 26424145, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EPG5 Melanie Marty reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EDA Melanie Marty reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 DOK7 Melanie Marty reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392, 34132406, 37849383; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 POLA1 Michelle Torres reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220, Van Esch-O'Driscoll syndrome MIM#301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 FLNA Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 YIF1B Michelle Torres reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006098, 26077767, 33103737, 36948290, 34373908, 39265055; Phenotypes: Kaya-Barakat-Masson syndrome MIM#619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RETREG1 Marta Cifuentes Ochoa reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WFS1 Michelle Torres reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301750, 33946243; Phenotypes: Wolfram syndrome 1 MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 DHDDS Crystle Lee reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 21295282; Phenotypes: Retinitis pigmentosa 59, MIM#613861, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 PTS Marta Cifuentes Ochoa reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WARS2 Michelle Torres reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37107582, 37824696; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710, Parkinsonism-dystonia 3, childhood-onset MIM#619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GHR Crystle Lee reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 37474955, 20583548, 31429861; Phenotypes: Laron dwarfism, MIM#262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 VMA21 Michelle Torres reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 HESX1 Crystle Lee reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16940453; Phenotypes: Septooptic dysplasia, MIM#182230, Pituitary hormone deficiency, combined, 5 MIM#182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 USB1 Michelle Torres reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29072891; Phenotypes: Poikiloderma with neutropenia MIM#604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPS6KA3 Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 TYRP1 Michelle Torres reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097, 25093188; Phenotypes: Albinism, oculocutaneous, type III MIM#203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPE65 Crystle Lee reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 20, MIM#613794, Leber congenital amaurosis 2, MIM#204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC19 Michelle Torres reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319, 25887401; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRAC Michelle Torres reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient MIM#615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TP53RK Michelle Torres reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4 MIM#617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TNFRSF11A Michelle Torres reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM67 Michelle Torres reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 29891882, 20232449, 26092869, 27336129; Phenotypes: COACH syndrome 1 MIM#216360, Joubert syndrome 6 MIM#610688, Meckel syndrome 3 MIM#607361, Nephronophthisis 11 MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRIP11 Kate Scarff reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20089971, 29872333, 31903676, 34057271, 34014608; Phenotypes: Achondrogenesis, type IA, MIM #200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM126A Michelle Torres reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33879611; Phenotypes: Optic atrophy 7 MIM#612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 COL4A5 Crystle Lee reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 WDR19 Crystle Lee reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 38163131, 22019273; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 UMPS Crystle Lee reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28205048, 33489760; Phenotypes: Orotic aciduria, MIM#258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22282472, 34354814, 20301500; Phenotypes: Joubert syndrome 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TWNK Crystle Lee reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSFM Crystle Lee reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 33816677, 31267352, 30911037, 27677415; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TALDO1 Michelle Torres reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25388407, 23315216, 29923087, 26238251, 11283793, 30740741; Phenotypes: Transaldolase deficiency MIM#606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM216 Crystle Lee reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2, MIM#608091, Meckel syndrome 2, MIM#603194, Retinitis pigmentosa 98, MIM#620996, ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SUOX Michelle Torres reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: Sulfite oxidase deficiency MIM#272300; Phenotypes: 9428520, 15952210, 31127934, 39676698, 36303223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SLC29A3 Michelle Torres reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20619369, 34657628, 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RSPH1 Michelle Torres reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197, 24568568; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PROC Marta Cifuentes Ochoa reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31577252, 32980846; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PLP1 Marta Cifuentes Ochoa reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1235 PEX26 Marta Cifuentes Ochoa reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938, Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCYT1A Marta Cifuentes Ochoa reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28272537, 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCCB Marta Cifuentes Ochoa reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773, 35296328; Phenotypes: Propionicacidemia MIM#606054, propionic acidemia MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RORC Michelle Torres reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376, 32960152; Phenotypes: Immunodeficiency 42 MIM#616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 OPA3 Marta Cifuentes Ochoa reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928268, 39166438, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III MIM#258501, 3-methylglutaconic aciduria type 3 MONDO:0009787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 NPHS1 Marta Cifuentes Ochoa reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 10972661; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300, congenital nephrotic syndrome, Finnish type MONDO:0009732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 ROBO3 Michelle Torres reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNU4ATAC Michelle Torres reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36795902, 26522830; Phenotypes: RNU4ATAC spectrum disorder MONDO:0100558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNASEH2B Michelle Torres reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2 MIM#610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RBBP8 Michelle Torres reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333564, 24440292, 21998596, 24389050, 34270086; Phenotypes: Jawad syndrome MIM#251255, Seckel syndrome 2 MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1229 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Prepair 1000+ v1.1102 PTH1R Zornitza Stark Mode of pathogenicity for gene: PTH1R was changed from to None
Prepair 1000+ v1.1088 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1080 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PYROXD1 Michelle Torres reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PHYH Michelle Torres reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PEX16 Michelle Torres reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1046 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v1.1039 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 ORC6 Michelle Torres reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1011 SYP Zornitza Stark reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 KIAA0586 Ee Ming Wong reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26386044, 28125082, 36580738, 39063141; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546), Joubert syndrome 23 (MIM#616490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NTRK1 Michelle Torres reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NPC1 Michelle Torres reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301473, 32138288; Phenotypes: Niemann-Pick disease, type C1 MIM#257220, Niemann-Pick disease, type D MIM#257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NKX6-2 Michelle Torres reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679, 30285346; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NDUFS7 Michelle Torres reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771, 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAGS Michelle Torres reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MMACHC Michelle Torres reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301503; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCOLN1 Michelle Torres reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33963976, 32604955; Phenotypes: Mucolipidosis IV MIM#252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCCC1 Michelle Torres reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530, 39188588; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LRBA Michelle Torres reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LPL Michelle Torres reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LIAS Michelle Torres reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SYP Ee Ming Wong reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 STIL Ee Ming Wong reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157, 29352115, 24485834; Phenotypes: Microcephaly 7, primary, (MIM# 612703); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A46 Ee Ming Wong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27543974, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505), Pontocerebellar hypoplasia, type 1E (MIM# 619303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A19 Ee Ming Wong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC17A5 Ee Ming Wong reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10947946, 5516337, 33862140; Phenotypes: Sialic acid storage disorder, infantile (MIM#269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 22819833, 20835237, 32432520, 22626039, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993), Senior-Loken syndrome 7 (MIM# 613615); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PLOD2 Shakira Heerah reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM#609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 PHGDH Shakira Heerah reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GORAB Clare Hunt reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19681135, 9018419, 18348262; Phenotypes: Geroderma osteodysplasticum, MIM#231070, MONDO:0009271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GALC Clare Hunt reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637, 21070211, 30899093, 24252386; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYB5R3 Ee Ming Wong reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898843, 38303731; Phenotypes: Methemoglobinemia, type II (MIM# 250800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 LAMA2 Lauren Thomas reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LDHA Michelle Torres reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36292720; Phenotypes: Glycogen storage disease XI MIM#612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KCNE1 Michelle Torres reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM#612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 JUP Michelle Torres reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 34587761; Phenotypes: Naxos disease MIM#601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KATNB1 Lauren Thomas reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 UBE2T Ee Ming Wong reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646888, 26119737, 26046368, 26085575; Phenotypes: Fanconi anemia, complementation group T (MIM#616435); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 IL10RB Michelle Torres reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IGHMBP2 Michelle Torres reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34785121, 25439726; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320, Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TBX22 Ee Ming Wong reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: None; Publications: 36901693, 22784330, 21375406; Phenotypes: Cleft palate with ankyloglossia (MIM# 303400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 HSPG2 Michelle Torres reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37761893; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GRHPR Michelle Torres reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301742, 28569194; Phenotypes: Hyperoxaluria, primary, type II MIM#260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GPSM2 Michelle Torres reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GLIS3 Michelle Torres reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GJA1 Michelle Torres reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23951358, 29902798, 34035645; Phenotypes: Craniometaphyseal dysplasia, autosomal recessive MIM#218400, Oculodentodigital dysplasia, autosomal recessive MIM#257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 FOXN1 Michelle Torres reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 FANCE Michelle Torres reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anemia, complementation group E MIM#600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EOGT Michelle Torres reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31368252, 23522784, 29924900; Phenotypes: Adams-Oliver syndrome 4 MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ELP1 Clare Hunt reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179021, 4322121, 16777588, 30905397; Phenotypes: Dysautonomia, familial MIM#223900, Hereditary sensory and autonomic neuropathy type III (HSAN3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2S3 Clare Hunt reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.992 EDAR Clare Hunt reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.992 ENPP1 Michelle Torres reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36150100; Phenotypes: Arterial calcification, generalized, of infancy, 1 MIM#208000, Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TAZ Ee Ming Wong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 SUMF1 Ee Ming Wong reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30896912; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 DPAGT1 Clare Hunt reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22304930, 22742743, 16870884; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ITPR1 Lauren Thomas reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2B1 Michelle Torres reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745209; Phenotypes: Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DNAI2 Clare Hunt reviewed gene: DNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18950741; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SCARB2 Ee Ming Wong reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677510, 35346091; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure (MIM #254900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 EFNB1 Michelle Torres reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia MIM#304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 ISCA1 Lauren Thomas changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

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

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

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

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

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.992 DDX11 Michelle Torres reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30216658; Phenotypes: Warsaw breakage syndrome MIM#613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ISCA1 Lauren Thomas reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28356563, 29767723; Phenotypes: Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DCHS1 Michelle Torres reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1 MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DARS Michelle Torres reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816769; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IL12RB1 Lauren Thomas reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL7A1 Michelle Torres reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31670143, 32506467, 25639640; Phenotypes: Epidermolysis bullosa dystrophica inversa MIM#226600, Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600, Epidermolysis bullosa dystrophica, localisata variant MIM#226600, Epidermolysis bullosa pruriginosa MIM#604129, Epidermolysis bullosa, pretibial MIM#131850, Transient bullous of the newborn MIM#131705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGUOK Clare Hunt reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12874104, 15887277, 23043144; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGKE Clare Hunt reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYP4F22 Clare Hunt reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CEP78 Michelle Torres reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240912; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CNGA3 Michelle Torres reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36980963; Phenotypes: Achromatopsia 2 MIM#216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL6A3 Michelle Torres reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676, 37082441; Phenotypes: Bethlem myopathy 1C MIM#620726, Ullrich congenital muscular dystrophy 1C MIM#620728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RCBTB1 Ee Ming Wong reviewed gene: RCBTB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486781, 33104391, 33624564; Phenotypes: Retinal dystrophy with or without extraocular anomalies (MIM#617175); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PTH1R Ee Ming Wong reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15525660, 17164305, 39276366; Phenotypes: Chondrodysplasia, Blomstrand type (MIM#215045), Eiken syndrome (MIM#600002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 POR Ee Ming Wong reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 20301592, 35842891; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PYCR2 Ee Ming Wong reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating 10 (MIM# 616420); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PMPCA Ee Ming Wong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia 2 (MIM# 213200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PKLR Ee Ming Wong reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535, 32702739; Phenotypes: Pyruvate Kinase deficiency (MIM# 266200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PIGT Ee Ming Wong reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCNT Ee Ming Wong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCDH12 Ee Ming Wong reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PC Ee Ming Wong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657, 20301764; Phenotypes: Pyruvate carboxylase deficiency (MIM#266150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NPR2 Ee Ming Wong reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15146390; Phenotypes: Acromesomelic dysplasia, Maroteaux type (MIM#602875); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NMNAT1 Ee Ming Wong reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Leber congenital amaurosis 9 (MIM#608553); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CHST14 Michelle Torres reviewed gene: CHST14: Rating: ; Mode of pathogenicity: None; Publications: 34815299; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NFU1 Ee Ming Wong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221, 36256512; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711), Spastic paraplegia 93 (MIM# 620938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CFI Michelle Torres reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942469; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NEK1 Ee Ming Wong reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly (MIM# 263520); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NDUFS6 Ee Ming Wong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NBN Ee Ming Wong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome (MIM#251260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TCAP Crystle Lee reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216648, 25724973; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NANS Ee Ming Wong reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NALCN Ee Ming Wong reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749988, 24075186, 3016785; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TBC1D24 Crystle Lee reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27281533, 25719194; Phenotypes: Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAA10 Ee Ming Wong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522270, 34200686, 37130971, 30842225, 2443133134075687; Phenotypes: Ogden syndrome (MIM#300855), Syndromic microphthalmia 1 (MIM#309800); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Prepair 1000+ v1.992 STX11 Crystle Lee reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486178, 16582076; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SQSTM1 Crystle Lee reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679, 39214971; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SLC12A6 Crystle Lee reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34706912; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SDHAF1 Crystle Lee reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM#619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RMND1 Crystle Lee reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MTR Ee Ming Wong reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RFXANK Crystle Lee reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875002; Phenotypes: MHC class II deficiency 2, MIM#620815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RDH12 Crystle Lee reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31884613, 19011012, 28471114, 34031043, 35491887; Phenotypes: Leber congenital amaurosis 13, MIM#612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MOCS1 Ee Ming Wong reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 9731530; Phenotypes: Molybdenum cofactor deficiency A (MIM#252150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RARS2 Crystle Lee reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38009286, 29881806; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.990 EARS2 Lilian Downie reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 39173847; Phenotypes: Combined oxidative phosphorylation deficiency 12 MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.988 DYM Lilian Downie reviewed gene: DYM: Rating: ; Mode of pathogenicity: None; Publications: 16326827, 38860472, 35477554; Phenotypes: Dyggve-Melchior-Clausen disease MIM#223800, Smith-McCort dysplasia MIM#607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.986 DKC1 Lilian Downie reviewed gene: DKC1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301779; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 DCAF17 Lilian Downie reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TMEM107 Kate Scarff reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26518474, 26595381, 26123494; Phenotypes: Orofaciodigital syndrome XVI, MIM #617563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TAP1 Kate Scarff reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30189467, 10074494, 28161407, 36839544, 16087697, 10931128; Phenotypes: MHC class I deficiency 1, MIM #604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SPATA7 Kate Scarff reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM #604232, Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20118786, 21203343, 26451371, 17220209, 32884076; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD), Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400, Corneal endothelial dystrophy, MIM #217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC35D1 Kate Scarff reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17952091, 19508970, 31423530, 38058750, 35934917; Phenotypes: Schneckenbecken dysplasia, MIM #269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC25A38 Kate Scarff reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34298585, 19412178; Phenotypes: Anemia, sideroblastic, 1, MIM #300751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC16A2 Kate Scarff reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301789, 20083155, 15980113; Phenotypes: Allan-Herndon-Dudley syndrome, MIM #300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 RP2 Kate Scarff reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10053026, 11462235, 22131869, 8225316, 26143542, 16969763, 14564670; Phenotypes: Retinitis pigmentosa 2, MIM #312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.982 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.981 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 RBCK1 Kate Scarff reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23104095, 23798481, 32187699, 23889995, 29260357; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RAX Kate Scarff reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14662654, 18783408, 30811539, 24033328, 22736936, 28831107; Phenotypes: Microphthalmia, syndromic 16, MIM #611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RARS Kate Scarff reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31814314, 28905880, 24777941; Phenotypes: Leukodystrophy, hypomyelinating, 9, MIM #616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 RAB39B Kate Scarff reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25434005, 34761259, 29152164, 20159109; Phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 RAB33B Kate Scarff reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35477554, 34000439, 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2, MIM #615222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PSAP Kate Scarff reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10682309, 30632081, 11309366, 19267410, 8554069; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NNT Marta Cifuentes Ochoa reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 37352919, 26548497, 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736, MONDO:0013874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NARS2 Marta Cifuentes Ochoa reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841, 36252909, 33596490, 38310242; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547, ?Deafness, autosomal recessive 94 - MIM#618434, MONDO:0032749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PIH1D3 Kate Scarff reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28176794, 28041644, 20301301; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked, MIM #300991; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 MMP21 Marta Cifuentes Ochoa reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26429889, 26437028, 26437029, 36123719, 33240936; Phenotypes: Heterotaxy, visceral, 7, autosomal MIM#616749, MONDO:0014762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 MID1 Marta Cifuentes Ochoa reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301502, 9354791; Phenotypes: Opitz GBBB syndrome MIM#300000, MONDO:0017138; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 PGAP3 Kate Scarff reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 MFSD8 Marta Cifuentes Ochoa reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500, 30382371, 35154277; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PEX1 Kate Scarff reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301621, 9398847, 17055079; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PGAP2 Shakira Heerah reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PGAP2 Shakira Heerah reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PEX2 Shakira Heerah reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866, Peroxisome biogenesis disorder 5B, MIM#614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 PDHB Kate Scarff reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15138885, 18164639, 26865159, 19924563, 34138529; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM #614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 KRT8 Shakira Heerah reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528, 9011570; Phenotypes: Cirrhosis, cryptogenic, MIM#215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Prepair 1000+ v1.978 PAPSS2 Kate Scarff reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM #612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NSDHL Kate Scarff reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19842190, 21129721, 34091503, 23042573; Phenotypes: CK syndrome, MIM #300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 XYLT1 Shakira Heerah reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343, 39273648; Phenotypes: Desbuquois dysplasia 2, MIM#615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NEXMIF Kate Scarff reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180, 33144681; Phenotypes: Intellectual developmental disorder, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 NEU1 Kate Scarff reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11063730, 8985184, 9054950, 39194692; Phenotypes: Sialidosis, type I, MIM #256550, Sialidosis, type II, MIM #256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.978 NDUFS2 Kate Scarff reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM #618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.975 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.966 CYBA Lilian Downie reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22876374; Phenotypes: Chronic granulomatous disease 4 MIM#233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.966 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.965 BBS2 Zornitza Stark reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.965 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, 215700 (3) to Citrullinaemia MIM# 215700
Prepair 1000+ v1.961 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 1 MIM#308350, Hydranencephaly with abnormal genitalia MIM#300215, Lissencephaly, X-linked 2 MIM#300215, Intellectual disability, X-linked 29 and others MIM#300419, Partington syndrome MIM#309510, Proud syndrome MIM#300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.950 COQ8B Lilian Downie reviewed gene: COQ8B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 35483523; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.941 CHRNE Lilian Downie reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301347; Phenotypes: Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809, Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.934 CD40LG Lilian Downie reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.924 NBAS Zornitza Stark reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761904; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800, Infantile liver failure syndrome 2, MIM#616483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.919 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.904 NAXE Kate Scarff reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27122014, 27616477, 31758406, 34678889, 35637064, 39455596; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MTRR Kate Scarff reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301503, 12555939, 15714522, 9501215; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MESP2 Kate Scarff reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18485326, 15122512, 20301771; Phenotypes: Spondylocostal dysostosis 2, MIM #608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MRAP Kate Scarff reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15654338, 34271604, 38796770, 36777708, 30817990; Phenotypes: Glucocorticoid deficiency 2, MIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MC2R Kate Scarff reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38796770, 8094489, 8227361, 35506146; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 MBOAT7 Kate Scarff reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23097495, 27616480, 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: Intellectual developmental disorder, autosomal recessive 57, MIM #617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 LRP4 Kate Scarff reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23636941, 20381006, 23664847, 30041615; Phenotypes: Cenani-Lenz syndactyly syndrome, MIM #212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.892 LARGE1 Kate Scarff reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12966029, 19067344, 21248746, 17436019, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.885 PIGG Zornitza Stark reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.877 KIF14 Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.870 C1QB Zornitza Stark reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.868 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.866 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Intellectual developmental disorder, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.864 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.862 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.860 CFD Zornitza Stark reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.858 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.857 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.855 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.854 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1B, MIM# 620725, Ullrich congenital muscular dystrophy 1B, MIM# 620727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.852 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.850 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.848 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.847 DNAJC12 Zornitza Stark reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.845 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.843 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.841 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.839 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 FRRS1L Zornitza Stark reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236917, 27239025, 30692144; Phenotypes: Developmental and epileptic encephalopathy, 37 MONDO:0014859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 XIAP Shakira Heerah reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndorme, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.837 RIPK4 Shakira Heerah reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488, 28416941; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 LAMC3 Kate Scarff reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34354730, 21572413, 29247375, 26802095; Phenotypes: Cortical malformations, occipital, MIM #614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 KIF14 Kate Scarff reviewed gene: KIF14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29343805, 28892560, 24128419; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 INPPL1 Kate Scarff reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23273569, 23273567, 34529350; Phenotypes: Opsismodysplasia MIM #258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 HPS4 Kate Scarff reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12664304, 11836498; Phenotypes: Hermansky-Pudlak syndrome 4, MIM #614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.837 HAX1 Kate Scarff reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17187068, 18611981; Phenotypes: Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 SACS Cassandra Muller reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 14718706, 12873855]; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 RTEL1 Cassandra Muller reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GUCY2D Kate Scarff reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15024725, 35314386; Phenotypes: Leber congenital amaurosis 1, MIM #204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 HPS6 Lauren Thomas reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 12548288, 17041891; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GUSB Lauren Thomas reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31661765, 32063397; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 GBA2 Lauren Thomas reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FOXRED1 Lauren Thomas reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441, 20858599; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FH Lauren Thomas reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8200987, 20549362, 31746132, 20301679; Phenotypes: Fumarase deficiency, MIM# 606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 FBXL4 Lauren Thomas reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506, 23993194; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 ETFB Lauren Thomas reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: None
Prepair 1000+ v1.836 EMD Lauren Thomas reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856, 31802929, 31645980; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.836 ELP2 Lauren Thomas reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: Intellectual developmental disorder, autosomal recessive 58, MIM# 617270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 DOCK6 Lauren Thomas reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM# 614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PROP1 Cassandra Muller reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2, 262600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 DCLRE1C Lauren Thomas reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type, MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 COX10 Lauren Thomas reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PIGO Cassandra Muller reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PIGO Cassandra Muller reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 OCLN Cassandra Muller reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516; Phenotypes: Pseudo-TORCH syndrome 1, 251290 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 NHEJ1 Cassandra Muller reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205, 37703920; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 NBAS Cassandra Muller reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Infantile liver failure syndrome 2, 616483 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 TF Lucy Spencer reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32028041; Phenotypes: Atransferrinemia MIM#209300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.836 PRPS1 Lucy Spencer reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPS1 deficiency disorder MONDO:0100061, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.832 LMAN1 Lucy Spencer reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852824; Phenotypes: Combined factor V and VIII deficiency MIM#227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.825 GJB1 Lucy Spencer reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301548; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.819 FERMT1 Lucy Spencer reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26937547; Phenotypes: Kindler syndrome MIM#173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.810 ZNHIT3 Lucy Spencer reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39252897; Phenotypes: PEHO syndrome MIM#260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.799 ZBTB24 Lucy Spencer reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069, MONDO:0013553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.796 WNT10A Lucy Spencer reviewed gene: WNT10A: Rating: RED; Mode of pathogenicity: None; Publications: 19559398, 30426266; Phenotypes: Ectodermal dysplasia 16 (odontoonychodermal dysplasia) MIM#257980, Schopf-Schulz-Passarge syndrome MIM#224750, Tooth agenesis, selective, 4 MIM#150400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.784 LINS1 Zornitza Stark reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.784 VPS45 Lucy Spencer reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: 30294941; Phenotypes: Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.774 VARS2 Lucy Spencer reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064326; Phenotypes: Combined oxidative phosphorylation deficiency 20 MIM#615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.770 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 to Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.769 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Prepair 1000+ v1.761 TTC7A Lucy Spencer reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28936210, 30553809; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TSHB Lucy Spencer reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TSEN54 Lucy Spencer reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A (MIM#277470), Pontocerebellar hypoplasia type 4 (MIM#225753), ?Pontocerebellar hypoplasia type 5 (MIM#610204); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 TPRKB Lucy Spencer reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 38628357, 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.761 D2HGDH Karina Sandoval reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15609246, 16081310, 31349060, 20020533, 38825343; Phenotypes: D-2-hydroxyglutaric aciduria, MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 CYP11B2 Andrew Coventry reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400, Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 CUL7 Andrew Coventry reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1 MIM#273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 CLDN19 Karina Sandoval reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400, 17033971, 22422540; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 WHRN Andrew Coventry reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307081, 26338283, 22147658, 17171570, 21738389, 27117407; Phenotypes: Usher syndrome, type 2D MIM#611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.730 MYMK Cassandra Muller reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, 254940 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.727 CTSK Lilian Downie reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 33151655; Phenotypes: Pycnodysostosis MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.722 MED25 Marta Cifuentes Ochoa reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121, 25527630, 30800049, 32324310, 19290556; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.721 CHRND Lilian Downie reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Multiple pterygium syndrome, lethal type MIM#253290, Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.719 MED17 Cassandra Muller reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345598, 33756211, 20950787; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 CFL2 Lilian Downie reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29457652, 17160903, 22560515; Phenotypes: Nemaline myopathy 7, autosomal recessive MIM#610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 DOCK8 Melanie Marty reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.718 MANBA Cassandra Muller reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, 248510 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 CCDC88C Lilian Downie reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 34092257, 29341397, 23042809, 21031079; Phenotypes: Hydrocephalus, congenital, 1 MIM#236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 DNAI1 Melanie Marty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901, 32502479, 31765523, 30622330; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 TUSC3 Andrew Coventry reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977, 28397838, 18452889, 23825019; Phenotypes: Intellectual developmental disorder, autosomal recessive 7 MIM#611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.716 DNAH11 Melanie Marty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.714 C8orf37 Lilian Downie reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: None; Publications: 22177090, 25113443, 26865426, 25802487; Phenotypes: Retinitis pigmentosa 64 MIM#614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.714 LYRM7 Cassandra Muller reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26912632, 24014394; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.714 DLG3 Melanie Marty reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24721225, 28777483; Phenotypes: Intellectual developmental disorder, X-linked 90 MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.711 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.709 C21orf2 Lilian Downie reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39232248, 26974433, 27548899, 28422394; Phenotypes: Retinal dystrophy with macular staphyloma MIM#617547, Spondylometaphyseal dysplasia, axial MIM#602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 TUBA8 Andrew Coventry reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 34704371; Phenotypes: Polymicrogyria with optic nerve hypoplasia MONDO:0013172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 LRPPRC Cassandra Muller reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 12529507, 12529507, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.708 DDHD2 Melanie Marty reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.707 TRDN Andrew Coventry reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441, Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.707 BTD Lilian Downie reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency MIM#253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.706 MARS2 Marta Cifuentes Ochoa reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25754315, 16672289, 22448145, 22448145, 23250129; Phenotypes: Combined oxidative phosphorylation deficiency 25, MIM #616430, MONDO:0014636, Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.702 BSND Lilian Downie reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687798, 19646679, 16572343; Phenotypes: Bartter syndrome, type 4a MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.701 TNFSF11 Andrew Coventry reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511, 36031188, 32940787, 32048120, 10984520; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.700 LMOD3 Cassandra Muller reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25250574, 28815944, 30291184; Phenotypes: Nemaline myopathy 10, 616165 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.698 BCKDHB Lilian Downie reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301495, 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib 620698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.695 TMEM70 Andrew Coventry reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.694 LIPT1 Cassandra Muller reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 29681092, 27977873; Phenotypes: Lipoyltransferase 1 deficiency, 616299 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.688 ATP6V0A4 Lilian Downie reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22872862, 12414817, 29311258; Phenotypes: Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.669 LINS1 Cassandra Muller reviewed gene: LINS1: Rating: ; Mode of pathogenicity: None; Publications: 34450347, 21937992, 32802957, 32499722; Phenotypes: Intellectual developmental disorder, autosomal recessive 2, 614340 (3); Mode of inheritance: None
Prepair 1000+ v1.644 KIF1A Cassandra Muller reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22258533, 21487076; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 TIMM8A Andrew Coventry reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 7643352; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 STXBP2 Andrew Coventry reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848, 22451424, 20558610; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LZTFL1 Marta Cifuentes Ochoa reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986, 38801250, 32686083, 37239474; Phenotypes: Bardet-Biedl syndrome 17 MIM#615994, MONDO:0014445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SMS Andrew Coventry reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SLC9A6 Andrew Coventry changed review comment from: Established gene-disease association. Childhood onset, multi-system, Angelman-like disorder.
Characterised by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types.

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

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

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

More than 20 unrelated families reported. Functional data including mouse model.
Prepair 1000+ v1.633 SLC9A6 Andrew Coventry reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 31192222, 35198730; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 SLC9A3 Andrew Coventry reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773, 32227118, 35775128; Phenotypes: Diarrhea 8, secretory sodium, congenital MIM#616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LRRC6 Marta Cifuentes Ochoa reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670, 38934611, 33577779, 39004944, 31624012; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935, MONDO:0013979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LDHB Marta Cifuentes Ochoa reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689, 11241838, 8723100; Phenotypes: Achondrogenesis Ib MIM#600972, Atelosteogenesis, type II MIM#256050, De la Chapelle dysplasia MIM#256050, Diastrophic dysplasia MIM#222600, Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600, Epiphyseal dysplasia, multiple, 4 MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC25A22 Andrew Coventry reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3 MIM#609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC25A15 Andrew Coventry reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CKAP2L Karina Sandoval reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome MIM#272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CHKB Karina Sandoval reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM#602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CDK5RAP2 Karina Sandoval reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CCNO Karina Sandoval reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM#615872, Primary Ciliary Dyskinesia 29, MONDO:0014378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CC2D2A Karina Sandoval reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 C3 Karina Sandoval reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CENPJ Michelle Torres reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 36334884; Phenotypes: Microcephaly 6, primary MIM#608393, Seckel syndrome 4 MIM#613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 CDH11 Michelle Torres reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29271567; Phenotypes: Elsahy-Waters syndrome MIM#211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 BBS7 Karina Sandoval reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC24A5 Andrew Coventry reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI MIM#113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC22A5 Andrew Coventry reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326, 25778941, 17884651, 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SLC16A1 Andrew Coventry reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 20301549, 36082648, 35729663; Phenotypes: Monocarboxylate transporter 1 deficiency MIM#616095; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.633 SH2D1A Andrew Coventry reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SGSH Andrew Coventry reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 SCO2 Andrew Coventry reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15210538, 18924171, 22231385, 10545952, 10749987; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 RSPH9 Andrew Coventry reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 RPL10 Andrew Coventry reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468, 29066376, 35876338; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35 MIM#300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 RAB3GAP2 Andrew Coventry reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16532399, 20967465, 23420520, 32740904, 32376645, 24891604; Phenotypes: Warburg micro syndrome MONDO:0016649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 QARS Andrew Coventry reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24656866, 27717089, 31618474, 25471517, 25432320, 24656866, 28620870, 25041233, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PRF1 Andrew Coventry reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19595804, 26199792, 30070073, 19487666, 26184781, 10583959, 19487666; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 MIM#603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMT1 Andrew Coventry reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15792865, 22549409, 31311558, 20065251, 25088310, 19299310, 19299310; Phenotypes: Myopathy caused by variation in POMT1 MONDO:0700070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MMAA Ee Ming Wong reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type (MIM#251100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 MERTK Ee Ming Wong reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38 (MIM#613862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 MARS Ee Ming Wong reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24103465, 25913036; Phenotypes: Interstitial lung and liver disease, MIM#615486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KCNJ1 Cassandra Muller reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, 241200 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IKBKB Cassandra Muller reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24369075, 25216719, 24679846, 32117824, 2513935; Phenotypes: Immunodeficiency 15, 615592 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HPS1 Cassandra Muller reviewed gene: HPS1: Rating: ; Mode of pathogenicity: None; Publications: 8896559, 9497254, 9705234, 27593200, 31898847; Phenotypes: Hermansky-Pudlak syndrome 1, 203300 (3); Mode of inheritance: None
Prepair 1000+ v1.633 HPD Cassandra Muller reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: None; Publications: 10942115, 23036342, 37817461, 28649543; Phenotypes: Tyrosinemia, type III, 276710 (3); Mode of inheritance: None
Prepair 1000+ v1.633 HFE2 Cassandra Muller reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GLYCTK Cassandra Muller reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949620, 31837836, 39619776; Phenotypes: D-glyceric aciduria, 220120 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LHX3 Ee Ming Wong reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30759489; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM# 221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KY Ee Ming Wong reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 27484770, 27485408, 30591934; Phenotypes: Myopathy, myofibrillar, 7 (MIM#617114); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 KLHL7 Ee Ming Wong reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 POP1 Crystle Lee reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, MIM#617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMGNT2 Crystle Lee reviewed gene: POMGNT2: Rating: ; Mode of pathogenicity: None; Publications: 34301702; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 POMC Crystle Lee reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 34177811; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IARS2 Crystle Lee reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30419932; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HINT1 Crystle Lee reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HGSNAT Crystle Lee reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 32770643; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930, Retinitis pigmentosa 73, MIM#616544; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PDE6C Crystle Lee reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33001157, 34720973; Phenotypes: Cone dystrophy 4, MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 NDUFAF2 Crystle Lee reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38419071; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 LPIN1 Crystle Lee reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 L2HGDH Crystle Lee reviewed gene: L2HGDH: Rating: ; Mode of pathogenicity: None; Publications: 39262645, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: None
Prepair 1000+ v1.633 HEXB Crystle Lee reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35711818; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HEPACAM Crystle Lee reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 HCFC1 Crystle Lee reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576; Phenotypes: Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 GPR143 Crystle Lee reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: Nystagmus 6, congenital, X-linked, MIM#300814, Ocular albinism, type I, Nettleship-Falls type, MIM#300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 POLR1C Andrew Coventry reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26151409, 21131976, 30957429, 32042905; Phenotypes: Leukodystrophy, hypomyelinating, 11 MIM#616494, Treacher Collins syndrome 3 MIM#248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PEX11B Andrew Coventry reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968, 31724321, 38423277, 39092477, 28129423, 33558817; Phenotypes: Peroxisome biogenesis disorder 14B MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 PEX10 Andrew Coventry reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10862081, 21031596, 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 JAGN1 Ee Ming Wong reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25129144, 37528877; Phenotypes: Severe congenital neutropenia 6, MIM# 616022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 NUP93 Andrew Coventry reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391, 37762751, 38650033, 37692026, 37845138; Phenotypes: Nephrotic syndrome, type 12 MIM#616892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IL10RA Ee Ming Wong reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Early onset inflammatory bowel disease 28 (MIM# 613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 IFT140 Ee Ming Wong reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.633 NPHP4 Andrew Coventry reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113, 23354436, 1577426, 23188109, 23559409; Phenotypes: Nephronophthisis 4 MONDO:0011752, Nephronophthisis 4 MIM#606966, Senior-Loken syndrome 4 MIM#606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 NDUFAF6 Andrew Coventry reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748, 18614015, 30642748, 29531337, 27623250, 28639102, 31967322, 32020600, 22019594, 25613900, 26741492, 35664867; Phenotypes: Leigh syndrome MONDO:0009723, Mitochondrial complex I deficiency, nuclear type 17 MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 IDS Ee Ming Wong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301451; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, Hunter syndrome, MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 NAGLU Andrew Coventry reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226, 14518829, 18392742, 11668611; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MTM1 Andrew Coventry reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201, 8640223, 27017278, 26938784, 15725586, 30232666, 37176116, 32805447, 31541013; Phenotypes: Myopathy, centronuclear, X-linked MIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 HPRT1 Ee Ming Wong reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301328; Phenotypes: Lesch-Nyhan syndrome (MIM#300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 COG6 Lauren Thomas reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl (MIM# 614576); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GPT2 Kate Scarff reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27601654, 25758935, 31471722; Phenotypes: Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM #616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MTFMT Andrew Coventry reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348, 30911575; Phenotypes: Leigh Syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 GPC3 Kate Scarff reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301398, 38766979; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM #312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.613 MMAB Andrew Coventry reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12471062, 24813872, 16410054; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.608 GM2A Kate Scarff reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM #272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 CCDC115 Melanie Marty reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: None
Prepair 1000+ v1.592 CA2 Melanie Marty reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 BCKDHA Melanie Marty reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7883996, 7672509, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 BBS5 Melanie Marty reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.592 ATP6AP1 Melanie Marty reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231034, 32048120; Phenotypes: Immunodeficiency 47, MIM#300972; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.592 ALDOB Melanie Marty reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 3083321; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 C8B Lauren Thomas reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 7980680, 27183977, 15565265; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 GCH1 Cassandra Muller reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10737119, 9667588; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 BMPER Lauren Thomas reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: 20869035, 30006055, 15988748, 17764081; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 FREM2 Cassandra Muller reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 8203166, 36720431, 33082983; Phenotypes: Fraser syndrome, 219000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.581 BIN1 Lauren Thomas reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042, 20142620; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.579 CD27 Zornitza Stark reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, MIM# 615122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.579 MGP Andrew Coventry reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37675773; Phenotypes: Keutel syndrome MIM#245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.577 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.575 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.575 MBTPS1 Andrew Coventry reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420688, 30046013, 32857899, 36330313, 36816387, 36714646; Phenotypes: Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.573 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1, MIM# 251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.572 LBR Marta Cifuentes Ochoa reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618959, 27604308, 29068549, 32304187; Phenotypes: Greenberg skeletal dysplasia MIM#215140, MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.571 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.569 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM#615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.569 FKBP10 Cassandra Muller reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362275, 22718341, 22689593, 22718341; Phenotypes: Bruck syndrome 1, 259450 (3), steogenesis imperfecta, type XI, 610968 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.567 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia 3, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.567 MALT1 Andrew Coventry reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM#615468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.565 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.563 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.561 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.561 LARP7 Andrew Coventry reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.559 AGPS Zornitza Stark reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.559 FA2H Cassandra Muller reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236799, 1715688; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 B4GALNT1 Lauren Thomas reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, MIM# 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.557 ATF6 Lauren Thomas reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 GUCY1A3 Ee Ming Wong reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36941667; Phenotypes: Moyamoya 6 with achalasia, MIM#615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GTF2H5 Ee Ming Wong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GRM1 Ee Ming Wong reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13, 614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GPAA1 Ee Ming Wong reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GNS Ee Ming Wong reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.553 GLDC Crystle Lee reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36817643, 34513771; Phenotypes: Glycine encephalopathy1 (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 GAMT Crystle Lee reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33996490, 38469086; Phenotypes: Cerebral creatine deficiency syndrome 2 (MIM#612736); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 ESCO2 Crystle Lee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome (MIM#216100), Roberts-SC phocomelia syndrome (MIM#268300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 EIF2B5 Crystle Lee reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20975056, 37674283, 25761052; Phenotypes: Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 DPH1 Crystle Lee reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166428, 33704902; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair (MIM#616901); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 CLN3 Marta Cifuentes Ochoa reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 9004140, 9311735, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 GNPAT Ee Ming Wong reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 GNB5 Ee Ming Wong reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 G6PC Ee Ming Wong reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia (MIM# 232200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 EYS Cassandra Muller reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: 20537394, 31074760; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 ACE Lauren Rogers reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.547 FOXP3 Ee Ming Wong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (MIM#304790); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.547 FLVCR1 Ee Ming Wong reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 FKRP Ee Ming Wong reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38277301; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153), Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 FARS2 Ee Ming Wong reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30869852; Phenotypes: Combined oxidative phosphorylation deficiency 14 (MIM#614946), Spastic paraplegia 77 (MIM#617046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.547 F7 Ee Ming Wong reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor VII deficiency, MIM# 227500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.546 ITCH Zornitza Stark reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FAM161A Lisa Norbart reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ARX Lisa Norbart reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14722918, 12379852, 19738637, 32519823, 28150386; Phenotypes: Developmental and epileptic encephalopathy 1, MIM#30835, Hydranencephaly with abnormal genitalia, MIM#300215, Intellectual developmental disorder, X-linked 29, MIM#300419, Lissencephaly, X-linked 2, MIM#300215, Partington syndrome, MIM#309510, Proud syndrome, MIM#300004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 LAMB3 Andrew Coventry reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7706760, 10577906, 17476356, 7698759, 11023379; Phenotypes: Epidermolysis bullosa, junctional 1A, intermediate MIM#226650, Epidermolysis bullosa, junctional 1B, severe MIM#226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KLHL40 Andrew Coventry reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive MIM#615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KCNQ1 Andrew Coventry reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9020846, 29037160, 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 JAM3 Andrew Coventry reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224, 34292449; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ITCH Andrew Coventry reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405, 9462731, 9462742; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IQCB1 Andrew Coventry reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5 MIM#609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ASS1 Lauren Thomas reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135652, 15334737; Phenotypes: Citrullinaemia (MIM# 215700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALS2 Lauren Thomas reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24315819, 12601111, 30128655, 33409823; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALG1 Lauren Thomas reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382, 24157261, 14973782; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALDH5A1 Lauren Thomas reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538, 32887777; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 INSR Andrew Coventry reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 11735220, 12023989, 13302174, 10084586; Phenotypes: Donohue syndrome MIM#246200, Rabson-Mendenhall syndrome MIM#262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IMPG2 Andrew Coventry reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20673862, 32242237, 37806544, 36206764, 38217426, 32817297, 24876279, 31264916, 34990796; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 LAMA3 Lisa Norbart reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional 2B, severe (MIM#619784), 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660), Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IFNGR1 Andrew Coventry reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15589309, 10192386, 7815885, 12244188, 10811850, 9389728; Phenotypes: Immunodeficiency 27A, mycobacteriosis, MIM#209950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GTPBP3 Andrew Coventry reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GLE1 Kate Scarff reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925, 32537934; Phenotypes: Congenital arthrogryposis with anterior horn cell disease, MIM #611890, Lethal congenital contracture syndrome 1, MIM #253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDI1 Kate Scarff reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41, MIM #300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 GDF1 Kate Scarff reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32144877, 20413652, 28991257; Phenotypes: Right atrial isomerism (Ivemark), MIM #208530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDAP1 Kate Scarff reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301711, 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FTCD Kate Scarff reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29178637; Phenotypes: Glutamate formiminotransferase deficiency, MIM #229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FMR1 Kate Scarff reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301558, 28176767, 29178241; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 FBXO7 Kate Scarff reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34396589, 20301402, 18513678, 34781237, 19038853; Phenotypes: Parkinson disease 15, autosomal recessive, MIM #260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 EIF2B2 Kate Scarff reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14566705, 21484434, 28041799, 11704758; Phenotypes: Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 EFEMP2 Kate Scarff reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21563328, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, MIM #614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 TMEM94 Lucy Spencer reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526868; Phenotypes: Intellectual developmental disorder with cardiac defects and dysmorphic facies MIM#618316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 DCDC2 Kate Scarff reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705, 27319779, 27469900, 36938759, 34155636; Phenotypes: Nephronophthisis 19, MIM #616217, Sclerosing cholangitis, neonatal, MIM #617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 CWC27 Kate Scarff reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36718996, 28285769, 31481716, 38956876, 34828430; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 PFKM Lucy Spencer reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 22364848; Phenotypes: Glycogen storage disease VII MIM#232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 OFD1 Lucy Spencer reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22619378, 31373179, 23033313, 16783569; Phenotypes: Joubert syndrome 10 MIM#300804, Simpson-Golabi-Behmel syndrome, type 2 MIM#300209, Retinitis pigmentosa 23 MIM#300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.525 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

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

ClinGen lumps all 3 conditions under spastic paraplegia 11

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

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

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

These 3 conditions represent a spectrum of disease and ClinGen lumps all 3 conditions under hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.521 GOSR2 Andrew Coventry reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340 33639315 1549339 23449775 24458321 30838261 32105965; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, Muscular dystrophy, congenital, with or without seizures MIM#620166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 GLB1 Andrew Coventry reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34539759 24156116 16941474 17309651 25936995 32219518 1928092 33558080 10841810; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM#230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTPS1 Kate Scarff reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24870241; Phenotypes: Immunodeficiency 24, MIM #615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 COX15 Kate Scarff reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15235026, 12474143, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DONSON Crystle Lee reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 31191207, 29760432; Phenotypes: Microcephaly-micromelia syndrome (MIM#251230), Microcephaly, short stature, and limb abnormalities (MIM#617604); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNMT3B Crystle Lee reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAJC19 Crystle Lee reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 35611801, 27928778; Phenotypes: 3-methylglutaconic aciduria, type V (MIM#610198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DLD Crystle Lee reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39040027; Phenotypes: Dihydrolipoamide dehydrogenase deficiency (MIM#246900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DDC Crystle Lee reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643Aromatic L-amino acid decarboxylase deficiency (MIM#608643); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DARS2 Crystle Lee reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35820270; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 COL27A1 Crystle Lee reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32360765, 33963180; Phenotypes: Steel syndrome (MIM#615155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CLRN1 Crystle Lee reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23304067, 35481838; Phenotypes: Usher syndrome, type 3A (MIM#276902); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 GFPT1 Andrew Coventry reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273 30635494 2131027 23794683; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FOLR1 Andrew Coventry reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866 30420205 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency MIM#613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FANCF Andrew Coventry reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118 31288759 20301575; Phenotypes: Fanconi anemia, complementation group F MIM#603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 EXTL3 Andrew Coventry reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690 28148688 28331220 38010729 35114981; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities MIM#617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAAF3 Andrew Coventry reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996 32622824 31186518 33577779 39004944 35869935 39289782 38296613 32502479 33479112; Phenotypes: Ciliary dyskinesia, primary, 2 MIM#606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 TANGO2 Lucy Spencer reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SUCLA2 Lucy Spencer reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPINK5 Lucy Spencer reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM#256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

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

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

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

ClinGen lumps all 3 conditions under spastic paraplegia 11

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).
Prepair 1000+ v1.486 SPG11 Lucy Spencer reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SH3TC2 Lucy Spencer reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SEMA4A Lucy Spencer reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SCYL1 Lucy Spencer reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 MIM#616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RTN4IP1 Lucy Spencer reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RLIM Lucy Spencer reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tonne-Kalscheuer syndrome MIM#300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.486 REN Lucy Spencer reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 REEP6 Lucy Spencer reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 77 MIM#617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RAPSN Lucy Spencer reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17594401; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326, Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCDC40 Michelle Torres reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15 MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCDC39 Michelle Torres reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972; Phenotypes: Ciliary dyskinesia, primary, 14 MIM#613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCBE1 Michelle Torres reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 MIM#235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CASR Michelle Torres reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22620673, 26646938; Phenotypes: Hyperparathyroidism, neonatal MIM#239200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BOLA3 Michelle Torres reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BBS9 Michelle Torres reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33771153, 31283077; Phenotypes: Bardet-Biedl syndrome 9 MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 ANKS6 Michelle Torres reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31678577, 23793029, 31635528, 24610927, 37525964; Phenotypes: Nephronophthisis 16 MIM#615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 AHI1 Michelle Torres reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155189, 20301500; Phenotypes: Joubert syndrome 3 MIM#608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298 16770791; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200, Cardiomyopathy, dilated, 3B MIM#302045; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.486 DDR2 Andrew Coventry reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212 20223752 8434618 20223752 8465857; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type MIM#271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTSA Andrew Coventry reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968752 18391110 7759227 6812049 28603679 8838767 19466716 16674934 23915561 26036949 24769197 28555253 15110321 27243974; Phenotypes: Galactosialidosis MIM#256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTNS Andrew Coventry reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26523297 20301574 25165189 9537412 10625078 30554218 12370309; Phenotypes: Cystinosis, nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, atypical nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 ADAMTSL2 Michelle Torres reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301776, 38300707; Phenotypes: Geleophysic dysplasia 1 MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 ADA Michelle Torres reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301656, 8673127; Phenotypes: Severe combined immunodeficiency due to ADA deficiency MIM#102700 AR, Smo, Adenosine deaminase deficiency, partial MIM#102700 AR,SMo.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 LAT Zornitza Stark reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 LAT Marta Cifuentes Ochoa reviewed gene: LAT: Rating: ; Mode of pathogenicity: None; Publications: 27353087, 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: None
Prepair 1000+ v1.470 KRT14 Marta Cifuentes Ochoa reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29024068; Phenotypes: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001, MONDO:0010976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KRT10 Marta Cifuentes Ochoa reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707, MONDO:0700245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KPTN Marta Cifuentes Ochoa reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Intellectual developmental disorder, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 RECQL4 Shakira Heerah reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315607, 39324487, 12952869, 15964893, 10319867, 12734318; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KCNJ10 Marta Cifuentes Ochoa reviewed gene: KCNJ10: Rating: ; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414, 38979912; Phenotypes: SESAME syndrome, MIM# 612780, EAST syndrome, MONDO:0013005, Enlarged vestibular aqueduct, digenic, MIM#600791, autosomal recessive nonsyndromic hearing loss 4, MONDO:0010933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 INPP5E Marta Cifuentes Ochoa reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 HYAL1 Marta Cifuentes Ochoa reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 1033958, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.458 CIT Lilian Downie Marked gene: CIT as ready
Prepair 1000+ v1.458 CIT Lilian Downie Gene: cit has been classified as Green List (High Evidence).
Prepair 1000+ v1.458 CIT Lilian Downie Publications for gene: CIT were set to
Prepair 1000+ v1.420 PEX3 Lucy Spencer reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882, Peroxisome biogenesis disorder 10B MIM#617370, Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CPS1 Andrew Coventry reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760 17310273 21120950 9862865 29801986 27834067 27150549 22173106; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL6A1 Andrew Coventry reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676 25535305 15955946 23738969 29277723 24443028; Phenotypes: Ullrich congenital muscular dystrophy 1A MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL18A1 Andrew Coventry reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167 25456301 30007336; Phenotypes: Knobloch syndrome, type 1 MIM#267750; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 KLHL41 Lisa Norbart reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM#615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 KIF1BP Lisa Norbart reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ITGB4 Lisa Norbart reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32017015, 11328943, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 IFT122 Lisa Norbart reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20817137, 20493458, 23826986, 26792575, 29220510, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HUWE1 Lisa Norbart reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 7943042, 27130160; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 HTRA2 Lisa Norbart reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM#617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HSD3B2 Lisa Norbart reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33757164, 1363812; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GPHN Lisa Norbart reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 12754701; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GALNS Lisa Norbart reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823, 23137060, 18412124; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FLNB Lisa Norbart reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566257, 22190451, 17360453, 20301736; Phenotypes: Spondylocarpotarsal synostosis syndrome, MIM#272460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FBLN5 Lisa Norbart reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 3232707, 22829427, 31945625, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCI Lisa Norbart reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773, 20301575, 26590883; Phenotypes: Fanconi anemia, complementation group I, MIM#609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCG Lisa Norbart reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anemia, complementation group G, MIM#614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EXOSC8 Cassandra Muller reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38017281; Phenotypes: Pontocerebellar hypoplasia, type 1C, 616081 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ETHE1 Lisa Norbart reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy, MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ECEL1 Lisa Norbart reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM#615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYP1B1 Lisa Norbart reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300, Anterior segment dysgenesis 6, multiple subtypes, MIM#617315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EML1 Cassandra Muller reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia, 600348 (3), Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYBB Lisa Norbart reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CTC1 Lisa Norbart reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM#612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CRLF1 Lisa Norbart reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL11A1 Lisa Norbart reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035103, 32427345; Phenotypes: Fibrochondrogenesis 1, MIM#228520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 DNAAF5 Cassandra Muller reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 25232951, 29363216; Phenotypes: Ciliary dyskinesia, primary, 18, 614874 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CLPP Lisa Norbart reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CAPN3 Lisa Norbart reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388, 32342993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CABP4 Lisa Norbart reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COG5 Andrew Coventry reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021 31572517 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi MIM#613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CNTNAP2 Andrew Coventry reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880 19896112 27439707 37183190 30762603; Phenotypes: Pitt-Hopkins like syndrome 1 MIM#610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CIT Andrew Coventry reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578 27503289 27453579 27519304; Phenotypes: Microcephaly 17, primary, autosomal recessive MIM#617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CHAT Andrew Coventry reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068 12756141 31192527 29518833 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic MIM#254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CDC45 Andrew Coventry reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763 27374770 30986546 33639314 34000999 11416137 21358631; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 BGN Andrew Coventry reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531898; Phenotypes: Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 ATCAY Andrew Coventry reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 14556008 29449188 23226316 26343454 37752557; Phenotypes: Ataxia, cerebellar, Cayman type MIM#601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 2263616 12384776; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: None
Prepair 1000+ v1.420 AIMP1 Andrew Coventry reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922 24958424 33402283 32531460 30486714 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3 MIM#260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGT Andrew Coventry reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425 34234805 33163725; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGBL5 Andrew Coventry reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455 26355662 30925032 38078364 27842159; Phenotypes: Retinitis pigmentosa 75 MIM#617023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ZFYVE26 Andrew Coventry reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829 33033739; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 YARS2 Andrew Coventry reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573 24344687 32183361; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 WDR60 Andrew Coventry reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462 29271569 26874042 37228654; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly MIM#615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.393 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927623; Phenotypes: HELIX syndrome, MIM#617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NUP62 Lucy Spencer reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP3 Lucy Spencer reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1 MIM#208540, Meckel syndrome 7 MIM#267010, Nephronophthisis 3 MIM#604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP1 Lucy Spencer reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1, juvenile MIM#256100, Joubert syndrome 4 MIM#609583, Senior-Loken syndrome-1 MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFAF5 Lucy Spencer reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16 MIM#618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFA1 Lucy Spencer reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 NDRG1 Lucy Spencer reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4D MIM#601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MTMR2 Lucy Spencer reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1 MIM#601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MPDZ Lucy Spencer reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MLYCD Lucy Spencer reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MGME1 Lucy Spencer reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 11 MIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 LPIN2 Lucy Spencer reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Majeed syndrome MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BRAT1 Lisa Norbart reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546, 23035047, 25319849, 25500575; Phenotypes: Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCS1L Lisa Norbart reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 17314340; Phenotypes: GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type 1, MIM#124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCKDK Lisa Norbart reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: 22956686, 24449431; Phenotypes: Branched-chain keto acid dehydrogenase kinase deficiency, MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 CLPB Crystle Lee reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34140661; Phenotypes: 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TPM3 Andrew Coventry reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26418456 7704029 17376686 18382475 19487656 12196661 10619715; Phenotypes: Congenital myopathy 4B, autosomal recessive MIM#609284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TPI1 Andrew Coventry reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582 32873690 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM#615512; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TNFRSF11B Andrew Coventry reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25108083 34166796 29080812 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 THOC2 Andrew Coventry reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480 32116545 29851191 32960281 34976470 37945483; Phenotypes: Intellectual developmental disorder, X-linked 12 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 CLDN10 Crystle Lee reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37984702, 31671507, 28674042; Phenotypes: HELIX syndrome (MIM#617671); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 CFP Crystle Lee reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22229731, 10909851; Phenotypes: Properdin deficiency, X-linked (MIM#312060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 CDH23 Crystle Lee reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 33316915; Phenotypes: Usher syndrome, type 1D (MIM#601067), Deafness, autosomal recessive 12 (MIM#601386); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.384 SGPL1 Lilian Downie reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36050428, 30517686, 35748945; Phenotypes: RENI syndrome MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NECTIN1 Lauren Rogers reviewed gene: NECTIN1: Rating: ; Mode of pathogenicity: None; Publications: 25913853, 10932188, 26953873; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NGF Lauren Rogers reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V (MIM#608654); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NDUFS8 Lauren Rogers reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 36101822; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 SLC38A8 Lauren Rogers reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290379, 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 TSPYL1 Lauren Rogers reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 32885560, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 CARS2 Crystle Lee reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139652, 34704010; Phenotypes: Combined oxidative phosphorylation deficiency 27 (MIM#616672); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 C5 Crystle Lee reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 BSCL2 Crystle Lee reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23564749, 23659685, 26815532; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy (MIM#615924), Lipodystrophy, congenital generalized, type 2 (MIM#269700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 BBS10 Crystle Lee reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 36340607; Phenotypes: Bardet-Biedl syndrome 10 (MIM#615987); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.348 ALPL Crystle Lee reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 23688511, 32029969, 24569605; Phenotypes: Hypophosphatasia, childhood (MIM#241510), Hypophosphatasia, infantile (MIM#241500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 TBCE Andrew Coventry reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666369 34134906 17699660 34356170 12389028; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207, Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410, Kenny-Caffey syndrome, type 1 MIM#244460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 STAR Andrew Coventry reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608 8634702 9326645 8948562 9097960 11061515 11297612 14764819 16968793; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 STAMBP Andrew Coventry reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699 31638258 29907875 27531570 25692795 25266620 11713295; Phenotypes: Microcephaly-capillary malformation syndrome MIM#614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SPEG Andrew Coventry reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25087613 31625632 30412272 30157964 29614691 29474540 28624463 26578207 25087613 32925938 33794647 19118250 25087613; Phenotypes: Centronuclear myopathy 5 MIM615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SPAG1 Andrew Coventry reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112 32502479; Phenotypes: Ciliary dyskinesia, primary, 28 MIM#615505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC6A3 Andrew Coventry reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 1 MIM#613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC45A2 Andrew Coventry reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907 14722913 14961451; Phenotypes: Albinism, oculocutaneous, type IV MIM#606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC2A10 Andrew Coventry reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989 16550171 17935213 22116938; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC13A5 Andrew Coventry reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870 26384929 27600704 38113697; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SARS2 Andrew Coventry reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276 21255763 33751860 34407605 38326069 38264205; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 RFXAP Andrew Coventry reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9118943 32875002 11258423; Phenotypes: MHC class II deficiency 4 MIM#620817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 RBM10 Andrew Coventry reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169 24259342 30450804 30189253 33340101; Phenotypes: TARP syndrome MIM#311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 PRUNE1 Andrew Coventry reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891 28334956 33105479 29797509; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PRG4 Andrew Coventry reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MIM#208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PQBP1 Andrew Coventry reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929 14634649 20410308 19661183; Phenotypes: Renpenning syndrome MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 POMGNT1 Andrew Coventry reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550 26908613 30961548 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PNPO Andrew Coventry reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443 33981986 33748042 32888189 24658933 15772097 31261385 31616300 31759955; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 ATP6V0A2 Clare Hunt reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19401719, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA MIM#219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HK1 Marta Cifuentes Ochoa reviewed gene: HK1: Rating: ; Mode of pathogenicity: None; Publications: 33361148, 12393545; Phenotypes: Hemolytic anemia due to hexokinase deficiency MIM#235700, Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) MONDO:0009340 and Neuropathy, hereditary motor and sensory, Russe type MIM#605285, Charcot-Marie-Tooth disease type 4G (CMT4G) MONDO:0011534; Mode of inheritance: None
Prepair 1000+ v1.322 ASPA Clare Hunt reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22750302, 20301412; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 AMPD2 Clare Hunt reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23911318; Phenotypes: Pontocerebellar hypoplasia type 9 (PCH9); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GATM Marta Cifuentes Ochoa reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11555793, 27604308; Phenotypes: Cerebral creatine deficiency syndrome 3 MIM#612718, AGAT deficiency MONDO:0012996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 ABAT Clare Hunt reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25738457; Phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GAN Marta Cifuentes Ochoa reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30532362, 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850, MONDO:0009749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 AARS2 Clare Hunt edited their review of gene: AARS2: Added comment: At least 6 families presenting with a severe COXPD phenotype in infancy, primarily with cardiac, muscle and neurological features in addition to lactic acidosis. Further 6 reported with a progressive neurodegenerative disorder characterised by loss of motor and cognitive skills, usually with onset in young adulthood. Some had a history of delayed motor development or learning difficulties in early childhood. Neurologic decline was severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most individuals lost speech and become wheelchair-bound or bedridden. Brain MRI showed progressive white matter signal abnormalities in the deep white matter. Affected females developed premature ovarian failure. These likely represent a spectrum of severity of a single mitochondrial disorder.
Created: 29 Aug 2020, 4:55 a.m. | Last Modified: 29 Aug 2020, 4:55 a.m.
Panel Version: 0.3999; Changed publications: 27839525
Prepair 1000+ v1.322 ALAD Lauren Thomas reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic, MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 DHCR7 Cassandra Muller reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16906538, 10602371, 10677299; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PKHD1 Andrew Coventry reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28375157 21945273; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease MIM#263200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.322 OCRL Andrew Coventry reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9199559 15627218 27625797; Phenotypes: Dent disease 2 MIM#300555, Lowe syndrome MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 CYP7B1 Cassandra Muller reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9802883, 18252231, 31337596, 18252231; Phenotypes: Bile acid synthesis defect, congenital, 3, 613812 (3), Spastic paraplegia 5A, 270800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 CYP27A1 Cassandra Muller reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PNKP Shakira Heerah reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899, 20118933, 23224214, 29243230, 2578773, 27066567; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay, Charcot-Marie-Tooth disease, type 2B2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 LARS Lucy Spencer reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 KCTD7 Lucy Spencer reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions MIM#611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HPS5 Lucy Spencer reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 MIM#614074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HLCS Lucy Spencer reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency MIM#253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HADHB Lucy Spencer reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial trifunctional protein deficiency 2 MIM#620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GSS Lucy Spencer reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency MIM#266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GNPTAB Lucy Spencer reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III alpha/beta MIM#252600, Mucolipidosis II alpha/beta MIM#252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGG Lucy Spencer reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGB Lucy Spencer reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGA Lucy Spencer reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGA Lucy Spencer reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: Afibrinogenemia, congenital (MIM#202400); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ARPC1B Crystle Lee reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36708766; Phenotypes: Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 AP3B2 Crystle Lee reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Developmental and epileptic encephalopathy 48, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ALG8 Crystle Lee reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054, 36574950; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM#608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ALG11 Crystle Lee reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36843332, 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM#613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 AIPL1 Crystle Lee reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33067476; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ADAMTS13 Crystle Lee reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 16796708, 34702267; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM#274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ACOX1 Crystle Lee reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ABCD1 Crystle Lee reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983253; Phenotypes: Adrenoleukodystrophy, MIM#300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.304 EVC Ee Ming Wong reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.304 ERCC2 Ee Ming Wong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301571, 32047639, 33369099; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: None; Current diagnostic: yes
Prepair 1000+ v1.304 EPCAM Ee Ming Wong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.304 DYNC2LI1 Ee Ming Wong reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.298 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.296 LCAT Zornitza Stark reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fish-eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.289 PSAT1 Lauren Rogers reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077105, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency MIM#610992, Neu-Laxova syndrome 2 MIM#616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 PIP5K1C Lauren Rogers reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: None; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 AP1S2 Lauren Rogers reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30714330, 23756445, 17186471; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 ALDH1A3 Lauren Rogers reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 30200890; Phenotypes: Microphthalmia, isolated 8 (MIM#615113); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ALDH18A1 Lauren Rogers reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24913064, 18478038, 26026163; Phenotypes: Cutis laxa, autosomal recessive, type IIIA (MIM#219150), Spastic paraplegia 9B, autosomal recessive (MIM#616586); Mode of inheritance: None
Prepair 1000+ v1.287 MRE11 Lauren Rogers reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1 (MIM#604391); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ZMYND10 Lauren Rogers reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22 (MIM#615444); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LCAT Lauren Rogers changed review comment from: Well established gene-disease association.

A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Onset is generally in adulthood; to: Well established gene-disease association.

A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Onset/diagnosis is generally in adulthood
Prepair 1000+ v1.287 LCAT Lauren Rogers reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30720493, 6624548, 34256778; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LCAT Lauren Rogers reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 GMPPB Lauren Rogers reviewed gene: GMPPB: Rating: ; Mode of pathogenicity: None; Publications: 36833299; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: None
Prepair 1000+ v1.287 GMPPA Lauren Rogers reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 GAS8 Lauren Rogers reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38873586, 26387594, 27120127; Phenotypes: Ciliary dyskinesia, primary, 33 MIM#616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 NYX Andrew Coventry reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471 11062472 16670814 23714322 34064005 34165036 12506099 11062471 17004930; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 NPHS2 Andrew Coventry reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597 30260545 24509478 10742096 23242530 24509478 12464671; Phenotypes: Nephrotic syndrome, type 2 MIM#600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 NIPAL4 Andrew Coventry reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15317751 17557927 10712205; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 MIM#612281; Mode of inheritance: None
Prepair 1000+ v1.287 MPLKIP Andrew Coventry reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive MIM#234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 MGAT2 Andrew Coventry reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595 11228641 22105986 33044030 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa MIM#212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 CTSF Cassandra Muller reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 MCFD2 Andrew Coventry reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12717434 17610559 18391077 15886209; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LRP5 Andrew Coventry reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9056564 9831343 11719191 15346351 18602879; Phenotypes: Exudative vitreoretinopathy 4 MIM#601813, Osteoporosis-pseudoglioma syndrome MIM#259770; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADGRV1 Lauren Thomas reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19357117; Phenotypes: Usher syndrome, type 2C, MIM# 605472 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADGRG1 Lauren Thomas reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADA2 Lauren Thomas reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ABCC6 Lauren Thomas reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.286 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.262 CFH Cassandra Muller reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: None; Publications: 7742208, 9312129, 10803850, 14978182; Phenotypes: Complement factor H deficiency, 609814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.262 CSTB Cassandra Muller reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.262 CPT1A Cassandra Muller reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, 255120 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.259 GNE Zornitza Stark reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: None
Prepair 1000+ v1.258 B9D1 Lilian Downie reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21493627, 24886560, 25920555, 32622957; Phenotypes: Joubert syndrome 27, MIM# 617120, Meckel syndrome 9, MIM# 614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 LGI4 Andrew Coventry reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499 16341215 31513940; Phenotypes: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 LAMB1 Andrew Coventry reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759 25925986 29888467 25925986 32548278 34606115 32548278 34606115; Phenotypes: Lissencephaly 5 MIM#615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 KRT85 Andrew Coventry reviewed gene: KRT85: Rating: AMBER; Mode of pathogenicity: None; Publications: 16525032 19865094 31273852 37178037; Phenotypes: Ectodermal dysplasia 4, hair/nail type MIM#602032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 JAK3 Andrew Coventry reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376 11668610 7481767 7481769 9354668 7659163 7481768 30032486 9753072; Phenotypes: Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 ITGB2 Andrew Coventry reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1968911 1694220 33957747 32279896 31374327; Phenotypes: Leukocyte adhesion deficiency MIM#116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 ICOS Andrew Coventry reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056 15507387 19380800 28861081 31858365 11343122 16982935 8438047; Phenotypes: Immunodeficiency, common variable, 1 MIM#607594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 COL4A4 Kate Scarff reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM# 203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.252 KCNJ11 Shakira Heerah reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345197, 32252216, 9356020; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GPC6 Andrew Coventry reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194 32655339 37353964; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 COL17A1 Kate Scarff reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301304, 21357940; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FTO Marta Cifuentes Ochoa reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938, lethal polymalformative syndrome, Boissel type MONDO:0013050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FREM1 Marta Cifuentes Ochoa reviewed gene: FREM1: Rating: ; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185, 19732862; Phenotypes: Manitoba oculotrichoanal syndrome MIM# 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, oculotrichoanal syndrome MONDO:0009560, BNAR syndrome MONDO:0012165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 EPM2A Marta Cifuentes Ochoa reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710 9931343 11175283 12019207 12560877 14722920, 30947044, 22036712, 16311711, 28818698; Phenotypes: Myoclonic epilepsy of Lafora 1 MIM#254780, MONDO:0958199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 F2 Marta Cifuentes Ochoa reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852823; Phenotypes: Hypoprothrombinemia MIM# 613679, congenital prothrombin deficiency MONDO:0013361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 CBS Marta Cifuentes Ochoa reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 7506602, 10338090, 7967489, 27778219; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic MIM#236200, classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GNE Andrew Coventry reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: 25257349 17549255 25061177 30171045 29941673; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GNAT2 Andrew Coventry reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983 17251445 15557429 23580486 31058429 12077706 12205108 27718025 21107338 28041643; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GLA Shakira Heerah reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17224688, 29649853, 26937390, 20301469; Phenotypes: Fabry disease, 301500, (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.248 FANCC Shakira Heerah reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29376519, 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, 227645 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GDF5 Andrew Coventry reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243 20683927 33872773; Phenotypes: Acromesomelic dysplasia 2A MIM#200700, Acromesomelic dysplasia 2B MIM#228900, Brachydactyly, type A1, C MIM#615072; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FKTN Andrew Coventry reviewed gene: FKTN: Rating: ; Mode of pathogenicity: None; Publications: 9690476 19017726 20301385 28680109 17036286; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276, Cardiomyopathy, dilated, 1X MIM#611615; Mode of inheritance: None
Prepair 1000+ v1.248 FAT4 Andrew Coventry reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106 24913602 24056717 22473091; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 F5 Andrew Coventry reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35593819 31121608; Phenotypes: Factor V deficiency MIM#227400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 EVC2 Andrew Coventry reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543 10700184 33050204; Phenotypes: Ellis-van Creveld syndrome MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 B3GALNT2 Shakira Heerah reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 B3GALNT2 Shakira Heerah reviewed gene: B3GALNT2: Rating: ; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 ERBB3 Andrew Coventry reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904 31752936 33497358 12548738 38009810; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive MIM#243180, Lethal congenital contractural syndrome 2 MIM#607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 EIF2B4 Andrew Coventry reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386 12707859 18263758 25843247 25761052 30014503 39139316; Phenotypes: Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 CRTAP Ee Ming Wong reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 COQ2 Cassandra Muller reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17855635, 17332895; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 COQ8A Ee Ming Wong reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 COQ2 Cassandra Muller reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, 607426 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 COQ6 Ee Ming Wong reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CHRNG Ee Ming Wong reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome (MIM# 265000), Multiple pterygium syndrome, lethal type, (MIM# 253290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CCDC8 Ee Ming Wong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CCDC114 Ee Ming Wong reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CLCN7 Cassandra Muller reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19507210, 11207362, 11741829, 14584882, 19953639; Phenotypes: Osteopetrosis, autosomal recessive 4, 611490 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 CLCF1 Cassandra Muller reviewed gene: CLCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16782820, 21370513, 20400119; Phenotypes: Cold-induced sweating syndrome 2, 610313 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 CIB2 Cassandra Muller reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 29112224; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 ALG2 Lana Giameos reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276, 34980536, 34106226; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906, Myasthenic syndrome, congenital, 14, MIM# 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.234 DYSF Zornitza Stark reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.234 DYSF Marta Cifuentes Ochoa reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.233 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly to Kaya-Barakat-Masson syndrome, MIM# 619125
Prepair 1000+ v1.229 AFF2 Zornitza Stark reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.226 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.201 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.191 DLL3 Marta Cifuentes Ochoa reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394, 36506336; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300, MONDO:0020692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 DGAT1 Marta Cifuentes Ochoa reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290, 31778854; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863, congenital diarrhea 7 with exudative enteropathy MONDO:0014375; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CRB2 Marta Cifuentes Ochoa reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, MONDO:0009063 Focal segmental glomerulosclerosis 9, MIM# 616220, MONDO:0014539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 COLQ Marta Cifuentes Ochoa reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253, 29478601, 23995276, 36835142; Phenotypes: Myasthenic syndrome, congenital, 5 MIM#603034, MONDO:0011281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 COLEC11 Marta Cifuentes Ochoa reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050, MONDO:0009927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 COL4A3 Marta Cifuentes Ochoa reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24052634, 35419377, 39071776; Phenotypes: Alport syndrome 3b, autosomal recessive MIM#620536, MONDO:0957811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CLN3 Marta Cifuentes Ochoa reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CLCN2 Marta Cifuentes Ochoa reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23707145, 38173802, 29403011, 29403012; Phenotypes: Leukoencephalopathy with ataxia MIM#615651, leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0014292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CISD2 Marta Cifuentes Ochoa reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35055657, 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928, MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CHM Marta Cifuentes Ochoa reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31021898, 27506488, 27820636, 33110609; Phenotypes: Choroideremia MIM#303100, MONDO:0010557; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.183 C1QC Zornitza Stark reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.181 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.174 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun syndrome, MIM# 612541, Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 GTPBP2 Zornitza Stark reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 28454995, 29449720, 30790272, 38852771, 38118446; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CFTR Marta Cifuentes Ochoa reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31199594, 19092437, 38153325, 26708955, 32172939; Phenotypes: Cystic fibrosis, MIM#219700, MONDO:0009061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 GALT Lucy Spencer reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 G6PC3 Lucy Spencer reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 FUCA1 Lucy Spencer reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CERS3 Marta Cifuentes Ochoa reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701, 37128664; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023, MONDO:0014010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 FANCB Lucy Spencer reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM#300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.168 ETFA Lucy Spencer reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CHRNA1 Cassandra Muller reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18806275, 10195214, 12588888, 18252226, 36092864; Phenotypes: Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 CEP41 Cassandra Muller reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: 22246503, 36580738; Phenotypes: Joubert syndrome 15, 614464 (3); Mode of inheritance: None
Prepair 1000+ v1.159 C1QC Cassandra Muller reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 31357913; Phenotypes: C1q deficiency, 613652 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 CEP152 Marta Cifuentes Ochoa reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753, 36685824; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BTK Marta Cifuentes Ochoa reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 31481959, 15024743, 34182127, 16951917; Phenotypes: Agammaglobulinemia, X-linked 1 MIM#300755, Bruton-type agammaglobulinemia MONDO:0010421, Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.159 HBA2 Andrew Coventry reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 HBA1 Andrew Coventry reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21381239 11722414 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BRF1 Marta Cifuentes Ochoa reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BRF1 Marta Cifuentes Ochoa reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 HBA2 Andrew Coventry reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, deletional and nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 B4GALT7 Marta Cifuentes Ochoa reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31614862, 34193099, 26940150; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070, MONDO:0020682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 AUH Marta Cifuentes Ochoa reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 AUH Marta Cifuentes Ochoa reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I MIM#250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 ASCC1 Marta Cifuentes Ochoa reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy, spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807, SMABF2 MIM#616867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ATP8B1 Cassandra Muller reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, 211600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ASNS Cassandra Muller reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24139043, 27469131, 29375865, 28776279; Phenotypes: Asparagine synthetase deficiency, 615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ARL13B Cassandra Muller reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38219074, 18674751, 25138100, 26092869, 27894351, 29255182; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ARFGEF2 Cassandra Muller reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912, 23755938; Phenotypes: Periventricular heterotopia with microcephaly, 608097 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 APOPT1 Cassandra Muller reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347, 32637636; Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 B3GLCT Karina Sandoval reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23161355, 18798333, 19796186, 32533185, 32204707, 31795264, 20301637, 16909395; Phenotypes: Peters-plus syndrome(MIM#261540); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 B3GALT6 Karina Sandoval reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 29931299, 29443383, 23664118, 28306229, 25149931; Phenotypes: Al-Gazali syndrome(MIM#609465), Ehlers-Danlos syndrome, spondylodysplastic type, 2(MIM#615349), Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures(MIM#271640); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.122 ARV1 Lilian Downie Added comment: Comment when marking as ready: Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur.
Prepair 1000+ v1.98 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.88 CTSC Zornitza Stark reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.84 AMT Lilian Downie reviewed gene: AMT: Rating: ; Mode of pathogenicity: None; Publications: PMID: 16450403,; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ADAR Lisa Norbart reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM#615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ABCA3 Lisa Norbart reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM#610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATP8A2 Ee Ming Wong reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ATR Karina Sandoval reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928, 23111928; Phenotypes: Seckel syndrome 1(MIM#210600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATOH7 Ee Ming Wong reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ALG9 Cassandra Muller reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690, 36326140; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATAD1 Ee Ming Wong reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28180185, 29390050, 29659736; Phenotypes: Hyperekplexia 4, MIM#618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ARSA Ee Ming Wong reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25987178, 23348427, 33195324; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 AKR1D1 Ee Ming Wong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 AGRN Cassandra Muller reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ADAMTS2 Ee Ming Wong reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ATP7A Karina Sandoval reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336, 7842019, 8981948; Phenotypes: Menkes disease(MIM#309400), Occipital horn syndrome(MIM#304150); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.82 ATP13A2 Karina Sandoval reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ASPM Karina Sandoval reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452193, 19332161, 19770472, 27250695, 29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive (MIM#608716); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 EIF2AK3 Andrew Coventry reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183 12960215 16813601 11997520 20202148 11430819; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 DDX59 Andrew Coventry reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741 29127725 23972372 28289185; Phenotypes: Orofaciodigital syndrome V MIM#174300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 DCX Andrew Coventry reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612 9489699 12552055 20301364 14625554; Phenotypes: Lissencephaly, X-linked MIM#300067, Subcortical laminal heterotopia, X-linked MIM#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)
Prepair 1000+ v1.82 CYP2U1 Andrew Coventry reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821 32006740 29034544 26914923 24337409 28725025; Phenotypes: Spastic paraplegia 56, autosomal recessive MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CYP17A1 Andrew Coventry reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762 14671162 2026124 35178494 35043964; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 COG7 Kate Scarff reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15107842, 17356545, 28883096, 17395513, 16151902; Phenotypes: Congenital disorder of glycosylation, type IIe, MIM # 608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CNTNAP1 Kate Scarff reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28374019, 29511323, 29882456, 27668699; Phenotypes: Lethal congenital contracture syndrome 7, MIM # 616286, Hypomyelinating neuropathy, congenital, 3, MIM # 618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CHST3 Kate Scarff reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM # 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CCDC103 Kate Scarff reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22581229, 32447765, 31858719, 28790179; Phenotypes: Primary ciliary dyskinesia-17, MIM # 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 C12orf57 Kate Scarff reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453666, 29383837, 31853307; Phenotypes: Temtamy syndrome, MIM # 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 BUB1B Kate Scarff reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ARV1 Marta Cifuentes Ochoa reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065, 34017911, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38 MIM#617020 MONDO:0014868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ARMC4 Marta Cifuentes Ochoa reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523, 23849778; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451 primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 AMT Marta Cifuentes Ochoa reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913, 16450403, 30350008, 26179960, 20301531, 25231368, 35646099; Phenotypes: Nonketotic Hyperglycinemia, Glycine encephalopathy MIM#620398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CYP11A1 Andrew Coventry reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514 16705068 18182448 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CNNM4 Andrew Coventry reviewed gene: CNNM4: Rating: ; Mode of pathogenicity: None; Publications: 30705057 29421294 19200527 19200525; Phenotypes: Jalili syndrome MIM#217080; Mode of inheritance: None
Prepair 1000+ v1.76 CNGB3 Andrew Coventry reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047 28795510 12140185 28795510; Phenotypes: Achromatopsia 3 MIM#262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLP1 Andrew Coventry reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809 24766810 23474986 29307788; Phenotypes: Pontocerebellar hypoplasia, type 10 MIM#615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ADAT3 Cassandra Muller reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286, 30296593, 35118659; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ERCC6L2 Lucy Spencer reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 DYNC1I2 Lucy Spencer reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ACADM Cassandra Muller reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158144; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 DHODH Lucy Spencer reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CTSC Lucy Spencer reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CPT2 Lucy Spencer reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32295037; Phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 COX20 Lucy Spencer reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751098; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLN6 Lucy Spencer reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CERKL Lucy Spencer reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 37331655; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 WNT1 Lauren Rogers reviewed gene: WNT1: Rating: ; Mode of pathogenicity: None; Publications: 23499310; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: None
Prepair 1000+ v1.65 WDR45B Lauren Rogers reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 VLDLR Lauren Rogers reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 USP9X Lauren Rogers reviewed gene: USP9X: Rating: ; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Intellectual developmental disorder, X-linked 99, MIM#300919; Mode of inheritance: None
Prepair 1000+ v1.65 TUFM Lauren Rogers reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 TUBGCP4 Lauren Rogers reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 TPK1 Lauren Rogers reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458; Phenotypes: 33086386, 32679198, 22152682, 33231275; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SURF1 Lauren Rogers reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SUCLG1 Lauren Rogers reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20693550; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SLC46A1 Lauren Rogers reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SGCG Lauren Rogers reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RNASEH2C Lauren Rogers reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RMRP Lauren Rogers reviewed gene: RMRP: Rating: ; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014, 11940090, 16252239; Phenotypes: Cartilage-hair hypoplasia MIM#250250, Anauxetic dysplasia 1, MIM#607095, Metaphyseal dysplasia without hypotrichosis MIM#250460; Mode of inheritance: None
Prepair 1000+ v1.65 RIN2 Lauren Rogers reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631308, 20424861, 23963297, 24449201; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RAB3GAP1 Lauren Rogers reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PMM2 Lauren Rogers reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: None
Prepair 1000+ v1.65 PLPBP Lauren Rogers reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30668673, 31741821; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM#617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PIGA Lauren Rogers reviewed gene: PIGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 PGM3 Lauren Rogers reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31231132, 33098103; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PGM1 Lauren Rogers reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211, 33342467; Phenotypes: Congenital disorder of glycosylation, type It (MIM#614921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ORC1 Lauren Rogers reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLDN1 Andrew Coventry reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889141 12164927 35304779 36779798; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 OBSL1 Lauren Rogers reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 OBSL1 Lauren Rogers reviewed gene: OBSL1: Rating: ; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: None
Prepair 1000+ v1.65 NTNG2 Lauren Rogers reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703, 31692205; Phenotypes: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 NKX3-2 Lauren Rogers reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLCN4 Andrew Coventry reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844 33951195 25644381 34479510 37409888; Phenotypes: Raynaud-Claes syndrome MIM#300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.65 CIITA Andrew Coventry reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893 9099848 11862382 28676232 24789686 20197681 11466404 15821736 12910265; Phenotypes: MHC class II deficiency 1 MIM#209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CDK10 Andrew Coventry reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341 29130579 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 NGLY1 Lauren Rogers reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MOGS Lauren Rogers reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492, 38498292, 33261925; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 C19orf12 Andrew Coventry reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780 31087512 23269600 33688131 22508347 31804703 30088953 20039086 24586779 35182730; Phenotypes: Neurodegeneration with brain iron accumulation 4 MIM#614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MOCS2 Lauren Rogers reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MMADHC Lauren Rogers reviewed gene: MMADHC: Rating: ; Mode of pathogenicity: None; Publications: 33552904; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MEGF8 Lauren Rogers reviewed gene: MEGF8: Rating: ; Mode of pathogenicity: None; Publications: 23063620; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MAN2B1 Lauren Rogers reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 BCAP31 Andrew Coventry reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989 33603160 32681719; Phenotypes: Deafness, dystonia, and cerebral hypomyelination MIM#300475, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 ISPD Lauren Rogers reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28688748, 30060766, 22522420; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ABCC8 Andrew Coventry reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17919176 1950816 21716120 38791571 36034573; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLCNKB Lucy Spencer reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25810436, 24965226; Phenotypes: Bartter syndrome, type 3 MIM#607364, Bartter syndrome, type 4b, digenic MIM#613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CEP290 Lucy Spencer reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604, 16909394, 24807808, 16682970, 16682973, 27434533, 20690115, 32208788; Phenotypes: CEP290-related ciliopathy MONDO:0100451, Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CDT1 Lucy Spencer reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992493, 21358631; Phenotypes: Meier-Gorlin syndrome 4 MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CD55 Lucy Spencer reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28657829; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CARD11 Lucy Spencer reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36729250, 23561803, 23374270; Phenotypes: Immunodeficiency 11A MIM#615206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 B3GAT3 Lucy Spencer reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31988067; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ATM Lauren Rogers reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30137827; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.60 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.52 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.51 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.43 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.43 COL2A1 Lauren Rogers reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.39 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.36 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.29 BBS1 Zornitza Stark reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.28 BBS12 Zornitza Stark reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.26 C1QA Zornitza Stark reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.21 CRB1 Zornitza Stark reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 8, MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.20 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.13 HPGD Zornitza Stark reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.11 HPSE2 Zornitza Stark reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.10 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ARSB Kate Scarff reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11668612, 31142378; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACTA1 Michelle Torres reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19562689; Phenotypes: Congenital myopathy 2B, severe infantile, autosomal recessive (MIM#620265); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ARHGEF9 Kate Scarff reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31942680, 30048823, 29130122, 28620718; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.9 ARG1 Kate Scarff reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26467175, 2365823, 1598908, 29726057; Phenotypes: Argininemia MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACO2 Michelle Torres reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: 34056600; Phenotypes: Infantile cerebellar-retinal degeneration (MIM#614559), Optic atrophy 9 (MIM#616289); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AQP2 Kate Scarff reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, type 2 MIM# 125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4B1 Kate Scarff reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALG12 Kate Scarff reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ADSL Kate Scarff reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25112391, 1302001, 22180458, 18524658; Phenotypes: Adenylosuccinase deficiency MIM#103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AGA Lana Giameos reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ATRX Andrew Coventry reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 AARS2 Clare Hunt reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL7R Lauren Rogers reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency 104 MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ASAH1 Lucy Spencer reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL2RG Lauren Rogers reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 IL1RN Lauren Rogers reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852, Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CRB1 Lauren Rogers reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4S1 Lucy Spencer reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM#614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HSD17B4 Lauren Rogers reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPSE2 Lauren Rogers reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4M1 Lucy Spencer reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ANTXR1 Lucy Spencer reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GAPO syndrome (MIM#230740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPGD Lauren Rogers reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALOXE3 Lucy Spencer reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALDH3A2 Lucy Spencer reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACADVL Lucy Spencer reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency (MIM#201475); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 GFM1 Lauren Rogers reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CD81 Lauren Rogers reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408, 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 C1QA Lauren Rogers reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 9225968, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ABHD5 Lauren Thomas reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ETFDH Lauren Rogers reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ECHS1 Lauren Rogers reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32642440; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DIS3L2 Lauren Rogers reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DBT Lauren Rogers reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP7B Andrew Coventry reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35042319 8298639 9554743 10790207 7626145 16133174 28433102; Phenotypes: Wilson disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALG3 Andrew Coventry reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009, 10581255, 15840742; Phenotypes: Congenital disorder of glycosylation, type Id; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AFF2 Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ALDH7A1 Andrew Coventry reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16491085, 17068770, 32969477, 33200442, 17721876, 19142996, 22784480, 29053735; Phenotypes: Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AK2 Andrew Coventry reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AGXT Andrew Coventry reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 2039493, 19479957, 33789010; Phenotypes: Hyperoxaluria, primary, type 1 MIM #259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CTSD Lauren Rogers reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 COQ4 Lauren Rogers reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 AGL Marta Cifuentes Ochoa reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26885414, 20301788, 35834487, 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACY1 Marta Cifuentes Ochoa reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16274666, 16465618, 17562838, 24117009, 37523070, 29653693, 26686503; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.7 AIFM1 Karina Sandoval reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 CLN5 Lauren Rogers reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD40 Lauren Rogers reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD3D Lauren Rogers reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19, severe combined MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS12 Lauren Rogers reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS1 Lauren Rogers reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20177705, 15637713; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP6V1B1 Lauren Rogers reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ARL6 Lauren Rogers reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: None
Prepair 1000+ v1.7 ANTXR2 Lauren Rogers reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALOX12B Lauren Rogers reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ADPRHL2 Karina Sandoval reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461, 35664652; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALMS1 Lauren Rogers reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AAAS Lauren Rogers reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACAD9 Karina Sandoval reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30025539, 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCA12 Karina Sandoval reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.4 ADPRHL2 Zornitza Stark reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.4 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SLC25A15 Seb Lunke Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) for gene: SLC25A15
Prepair 1000+ v1.3 SLC25A13 Seb Lunke Added phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) for gene: SLC25A13
Prepair 1000+ v1.3 ASS1 Seb Lunke Added phenotypes Citrullinemia, 215700 (3) for gene: ASS1
Prepair 1000+ v1.0 BRIP1 Himanshu Goel gene: BRIP1 was added
gene: BRIP1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116423
Phenotypes for gene: BRIP1 were set to Fanconi Anaemia
Penetrance for gene: BRIP1 were set to Complete
Mode of pathogenicity for gene: BRIP1 was set to Other
Review for gene: BRIP1 was set to GREEN
gene: BRIP1 was marked as current diagnostic
Added comment: Sources: Literature
Prepair 1000+ v1.0 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.193 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#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)
Prepair 1000+ v0.189 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.189 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GP9 Zornitza Stark reviewed gene: GP9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type C (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.184 F11 Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.180 F9 Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.179 F5 Zornitza Stark reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.178 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, type 3, MIM#604250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 TAT Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.160 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.159 SLC12A3 Zornitza Stark reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM#263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.157 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease (MIM#232600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 OAT Zornitza Stark reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, MIM# 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.156 NR2E3 Zornitza Stark reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.155 RPGR Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.155 RYR1 Lilian Downie reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.153 MEFV Zornitza Stark reviewed gene: MEFV: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever, AR (MIM#249100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.152 HOGA1 Zornitza Stark reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type III (MIM#613616); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.151 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II (MIM#260000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.150 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts (MIM#230200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.147 G6PD Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.146 EYS Zornitza Stark reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.145 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.144 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.143 CERKL Zornitza Stark reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 33322828; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.142 BTD Zornitza Stark reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency (MIM#253260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.140 AIRE Zornitza Stark reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.137 TRAC Zornitza Stark reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.136 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.136 VPS13A Zornitza Stark reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29518281; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000, Central core disease, MIM# 117000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PROC Zornitza Stark reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.134 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.133 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.131 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.129 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 MPZ Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.123 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.123 IGHM Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.121 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.119 GK Zornitza Stark reviewed gene: GK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: None
Prepair 1000+ v0.117 FTCD Zornitza Stark reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.116 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.114 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.110 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.109 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.106 CARD9 Zornitza Stark reviewed gene: CARD9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.99 C6 Zornitza Stark reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.99 C7 Zornitza Stark reviewed gene: C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.97 BGN Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.95 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.93 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.92 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791), Pendred syndrome (MIM#274600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.91 MCCC1 Zornitza Stark reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.89 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77 (MIM#613079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.85 GJB2 Zornitza Stark reviewed gene: GJB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.85 TECPR2 Crystle Lee gene: TECPR2 was added
gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Review for gene: TECPR2 was set to GREEN
Added comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent
Sources: Literature
Prepair 1000+ v0.83 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.68 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy, lethal, MIM#275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 KCNE1 Crystle Lee reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 VPS13A Crystle Lee reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28446873; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 TH Crystle Lee reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive (MIM#605407); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SPG11 Crystle Lee reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive (MIM#604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SPART Crystle Lee reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome (MIM#275900), SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SETX Crystle Lee reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 PLA2G6 Crystle Lee reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35803092; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 PANK2 Crystle Lee reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822; Phenotypes: HARP syndrome (MIM#607236), Neurodegeneration with brain iron accumulation 1 (MIM#234200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 NPC2 Crystle Lee reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29625568, 17470133; Phenotypes: Niemann-pick disease, type C2 (MIM#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 NPC1 Crystle Lee reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11333381, 26910362; Phenotypes: Niemann-Pick disease, type C1 (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 LMNA Crystle Lee reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18551513, 15148145, 17377071; Phenotypes: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (MIM#616516), Mandibuloacral dysplasia (MIM#248370); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.61 LDLR Crystle Lee reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: LDL cholesterol level QTL2/Hypercholesterolemia, familial, 1 (MIM#143890); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.61 FIG4 Crystle Lee reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30740813, 23623387, 17572665, 24878229; Phenotypes: Yunis-Varon syndrome (MIM#216340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 IGHM Crystle Lee reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12370281, 8890099; Phenotypes: Agammaglobulinemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 DOCK2 Crystle Lee reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364; Phenotypes: Immunodeficiency 40 (MIM#616433); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 PRKRA Crystle Lee reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 35844281, 18243799, 25142429, 35844287; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 KCNQ1 Crystle Lee reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29033053, 28438721; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 GLA Crystle Lee reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.58 FA2H Crystle Lee reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive (MIM#612319); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 DSP Crystle Lee reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22795705, 16175511, 20302578, 20613772, 16467215; Phenotypes: Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676), Epidermolysis bullosa, lethal acantholytic (MIM#609638); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 CASQ2 Crystle Lee reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34012068; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 ATP7B Crystle Lee reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28433102; Phenotypes: Wilson disease (MIM#277900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 ATP13A2 Crystle Lee reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: 28137957, 30746398; Phenotypes: Kufor-Rakeb syndrome (MIM#606693), Spastic paraplegia 78, autosomal recessive (MIM#617225); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 BGN Crystle Lee reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.58 C8B Crystle Lee reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484, 31440263; Phenotypes: C8 deficiency, type II (MIM#613789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C7 Crystle Lee reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C6 Crystle Lee reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31440263, 23537992, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 PGK1 Crystle Lee reviewed gene: PGK1: Rating: ; Mode of pathogenicity: None; Publications: 16567715, 30887539, 22348148, 28580215; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.58 GK Crystle Lee reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: None; Publications: 33212314, 16549535, 10851254, 9719371, 8651297; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.55 KRT85 Zornitza Stark reviewed gene: KRT85: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 4, hair/nail type (MIM#602032); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.54 HERC2 Crystle Lee reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31124564, 11896453; Phenotypes: Intellectual developmental disorder, autosomal recessive 38 (MIM#615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.54 GBA Crystle Lee reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28727984; Phenotypes: Gaucher disease, perinatal lethal (MIM#608013); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.52 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 SAMD9 Crystle Lee reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.50 FTCD Crystle Lee reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29178637, 30740726, 12815595; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 KRT85 Crystle Lee reviewed gene: KRT85: Rating: AMBER; Mode of pathogenicity: None; Publications: 16525032, 19865094, 31273852; Phenotypes: Ectodermal dysplasia 4, hair/nail type (MIM#602032); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 RAG2 Crystle Lee reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996199, 30046960; Phenotypes: Combined cellular and humoral immune defects with granulomas (MIM#233650), Omenn syndrome (MIM#603554), Severe combined immunodeficiency, B cell-negative (MIM#601457); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 CARD9 Crystle Lee reviewed gene: CARD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 30136218; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection (MIM#212050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 PLG Crystle Lee reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 9242524, 35244080; Phenotypes: Angioedema, hereditary, 4 (MIM#619360), Dysplasminogenemia (MIM#217090), Plasminogen deficiency, type I (MIM#217090); Mode of inheritance: None
Prepair 1000+ v0.50 GYS2 Crystle Lee reviewed gene: GYS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18341095, 32395408; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 MPZ Crystle Lee reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 30239779, 8816708, 12845552, 16488608, 26310628, 8630052; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791), Charcot-Marie-Tooth disease, type 1B (MIM#118200), Charcot-Marie-Tooth disease, type 2I (MIM#607677), Charcot-Marie-Tooth disease, type 2J (MIM#607736), Dejerine-Sottas disease (MIM#145900), Hypomyelinating neuropathy, congenital, 2 (MIM#618184), Roussy-Levy syndrome (MIM#180800); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 NCF1 Crystle Lee reviewed gene: NCF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30651282, 23688784; Phenotypes: Chronic granulomatous disease 1, autosomal recessive (MIM#233700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 NEB Crystle Lee reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27228465; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23022101, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 SNORD118 Crystle Lee reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts (MIM#614561); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 UBA1 Crystle Lee reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 23518311, 26028276; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile (MIM#301830); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 CHM Crystle Lee reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110609, 27820636; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 IKBKG Crystle Lee reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 RYR1 Crystle Lee reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.49 CNGA3 Crystle Lee reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: None; Publications: 11536077, 35332618; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 F2 Crystle Lee reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysprothrombinemia (MIM#613679), Hypoprothrombinemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 F5 Crystle Lee reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 F9 Crystle Lee reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 ITGA6 Crystle Lee reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201, 20301336; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 PDHA1 Crystle Lee reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28584645, 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.40 TTN Crystle Lee reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 VWF Crystle Lee reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1 (MIM#193400), von Willebrand disease, type 3 (MIM#277480), von Willebrand disease, types 2A, 2B, 2M, and 2N (MIM#613554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 SHOX Crystle Lee reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia (MIM#249700), Leri-Weill dyschondrosteosis (MIM#127300), Short stature, idiopathic familial (MIM#300582); Mode of inheritance: Other
Prepair 1000+ v0.40 EFNB1 Crystle Lee reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#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)
Prepair 1000+ v0.40 VPS11 Crystle Lee reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 TNFRSF13B Crystle Lee reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 31681265; Phenotypes: Immunodeficiency, common variable, 2 (MIM#240500); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 RPL10 Crystle Lee reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.40 SERPINA1 Crystle Lee reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency (MIM#613490), Emphysema-cirrhosis, due to AAT deficiency (MIM#613490), Hemorrhagic diathesis due to antithrombin Pittsburgh (MIM#613490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 TRAC Crystle Lee reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: 33909184, 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 OCA2 Crystle Lee reviewed gene: OCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous (MIM#203200), Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 F8 Crystle Lee reviewed gene: F8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia A (MIM#306700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.32 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.31 VPS37A Crystle Lee reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 UQCRQ Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 SGO1 Crystle Lee reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 TSPAN7 Crystle Lee reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.28 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.25 SEC23A Zornitza Stark reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.22 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.16 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.13 MCM4 Zornitza Stark reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.9 IGFBP7 Zornitza Stark reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.7 EMG1 Zornitza Stark reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.4 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.1 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.0 PIBF1 Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 33 (MIM#617767); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 SEMA4A Crystle Lee reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: 16199541, 28805479; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.0 SEC23A Crystle Lee reviewed gene: SEC23A: Rating: ; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: None
Prepair 1000+ v0.0 NUP62 Crystle Lee reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 NLGN4X Crystle Lee reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked (MIM#300495); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.0 NDUFA11 Crystle Lee reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 MCM4 Crystle Lee reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 LDHB Crystle Lee reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 IGFBP7 Crystle Lee reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosiS, MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 EMG1 Crystle Lee reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 DSTYK Crystle Lee reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 ALG2 Crystle Lee reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433, 12684507; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: None
Prepair 1000+ v0.0 YIF1B Zornitza Stark gene: YIF1B was added
gene: YIF1B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098; 26077767
Phenotypes for gene: YIF1B were set to Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly
Prepair 1000+ v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 32369837; 28777934
Phenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Prepair 1000+ v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 25558065; 31395947; 27848944; 29899372; 29090338
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Prepair 1000+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Prepair 1000+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Prepair 1000+ v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Prepair 1000+ v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Prepair 1000+ v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Prepair 1000+ v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)
Prepair 1000+ v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)