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Prepair 1000+ v1.1121 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Prepair 1000+ v1.1120 PC Zornitza Stark Marked gene: PC as ready
Prepair 1000+ v1.1120 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1120 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 1000+ v1.1119 PC Zornitza Stark Publications for gene: PC were set to
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Prepair 1000+ v1.1117 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Prepair 1000+ v1.1116 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 1000+ v1.1116 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1116 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 1000+ v1.1115 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 1000+ v1.1114 PIGT Zornitza Stark Marked gene: PIGT as ready
Prepair 1000+ v1.1114 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1114 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Prepair 1000+ v1.1113 PIGT Zornitza Stark Publications for gene: PIGT were set to
Prepair 1000+ v1.1112 PKLR Zornitza Stark Marked gene: PKLR as ready
Prepair 1000+ v1.1112 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1112 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency, 266200 (3) to Pyruvate kinase deficiency, MIM#266200
Prepair 1000+ v1.1111 PKLR Zornitza Stark Publications for gene: PKLR were set to
Prepair 1000+ v1.1110 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM#213200 to Spinocerebellar ataxia 2, MIM#213200
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, 213200 (3) to Spinocerebellar ataxia, autosomal recessive 2, MIM#213200
Prepair 1000+ v1.1108 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10, 616420 (3) to Leukodystrophy, hypomyelinating, 10, MIM#616420
Prepair 1000+ v1.1106 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Prepair 1000+ v1.1105 POR Zornitza Stark Marked gene: POR as ready
Prepair 1000+ v1.1105 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Prepair 1000+ v1.1105 POR Zornitza Stark Publications for gene: POR were set to
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type, 215045 (3) to Chondrodysplasia, Blomstrand type (MIM#215045); Eiken syndrome (MIM#600002)
Prepair 1000+ v1.1103 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Prepair 1000+ v1.1102 PTH1R Zornitza Stark Mode of pathogenicity for gene: PTH1R was changed from to None
Prepair 1000+ v1.1101 RCBTB1 Zornitza Stark Tag for review tag was added to gene: RCBTB1.
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Ullrich congenital muscular dystrophy 1, MIM#254090
Prepair 1000+ v1.1100 COL6A3 Zornitza Stark Publications for gene: COL6A3 were set to
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive to Cone-rod dystrophy and hearing loss, MIM#617236
Prepair 1000+ v1.1098 CEP78 Zornitza Stark Publications for gene: CEP78 were set to
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 (3) to Ichthyosis, congenital, autosomal recessive 5, MIM#604777
Prepair 1000+ v1.1096 DGKE Zornitza Stark Marked gene: DGKE as ready
Prepair 1000+ v1.1096 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Prepair 1000+ v1.1096 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008
Prepair 1000+ v1.1095 DGKE Zornitza Stark Publications for gene: DGKE were set to
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Prepair 1000+ v1.1093 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica, MIM#226600
Prepair 1000+ v1.1091 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891
Prepair 1000+ v1.1089 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Prepair 1000+ v1.1088 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1088 DARS Zornitza Stark Marked gene: DARS as ready
Prepair 1000+ v1.1088 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1088 DARS Zornitza Stark Publications for gene: DARS were set to
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398
Prepair 1000+ v1.1085 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Prepair 1000+ v1.1084 ISCA1 Zornitza Stark Tag for review tag was added to gene: ISCA1.
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) to Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900
Prepair 1000+ v1.1083 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444
Prepair 1000+ v1.1081 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Prepair 1000+ v1.1080 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Prepair 1000+ v1.1079 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM#206700
Prepair 1000+ v1.1077 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750
Prepair 1000+ v1.1075 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200
Prepair 1000+ v1.1073 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Prepair 1000+ v1.1072 TAZ Zornitza Stark Marked gene: TAZ as ready
Prepair 1000+ v1.1072 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Prepair 1000+ v1.1072 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome (MIM# 302060)
Prepair 1000+ v1.1071 TAZ Zornitza Stark Publications for gene: TAZ were set to
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
Prepair 1000+ v1.1069 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Prepair 1000+ v1.1068 EDAR Zornitza Stark Marked gene: EDAR as ready
Prepair 1000+ v1.1068 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Prepair 1000+ v1.1068 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Prepair 1000+ v1.1067 EDAR Zornitza Stark Publications for gene: EDAR were set to
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, 300148 (3), X-linked recessive to MEHMO syndrome, MIM# 300148
Prepair 1000+ v1.1065 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Prepair 1000+ v1.1064 PYROXD1 Michelle Torres reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PHYH Michelle Torres reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PEX16 Michelle Torres reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1064 PDHA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 (3) to Dysautonomia, familial MIM#223900; Hereditary sensory and autonomic neuropathy type III (HSAN3)
Prepair 1000+ v1.1063 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Prepair 1000+ v1.1062 EOGT Zornitza Stark Marked gene: EOGT as ready
Prepair 1000+ v1.1062 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1062 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, 615297 (3) to Adams-Oliver syndrome 4, MIM#615297
Prepair 1000+ v1.1061 EOGT Zornitza Stark Publications for gene: EOGT were set to
Prepair 1000+ v1.1060 FANCE Zornitza Stark Marked gene: FANCE as ready
Prepair 1000+ v1.1060 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Prepair 1000+ v1.1060 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901 (3) to Fanconi anaemia, complementation group E, MIM#600901
Prepair 1000+ v1.1059 FANCE Zornitza Stark Publications for gene: FANCE were set to
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
Prepair 1000+ v1.1057 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1, 241550 (3) to Craniometaphyseal dysplasia, autosomal recessive MIM#218400; Oculodentodigital dysplasia, autosomal recessive MIM#257850
Prepair 1000+ v1.1055 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Prepair 1000+ v1.1053 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome, 604213 (3) to Chudley-McCullough syndrome, MIM#604213
Prepair 1000+ v1.1051 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Prepair 1000+ v1.1050 GRHPR Zornitza Stark Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 (3) to Schwartz-Jampel syndrome, type 1, MIM# 255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Prepair 1000+ v1.1048 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Prepair 1000+ v1.1046 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Prepair 1000+ v1.1045 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Publications for gene: IL10RB were set to 22549091
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anaemia, complementation group T, MIM#616435
Prepair 1000+ v1.1042 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212
Prepair 1000+ v1.1040 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Prepair 1000+ v1.1039 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Marked gene: JUP as ready
Prepair 1000+ v1.1039 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Prepair 1000+ v1.1039 ORC6 Michelle Torres reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease, 601214 (3) to Naxos disease MIM#601214
Prepair 1000+ v1.1038 JUP Zornitza Stark Publications for gene: JUP were set to
Prepair 1000+ v1.1037 LDHA Zornitza Stark Marked gene: LDHA as ready
Prepair 1000+ v1.1037 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Prepair 1000+ v1.1037 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from Glycogen storage disease XI, 612933 (3) to Glycogen storage disease XI MIM#612933
Prepair 1000+ v1.1036 LDHA Zornitza Stark Publications for gene: LDHA were set to
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Prepair 1000+ v1.1034 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from Methemoglobinemia, type I, 250800 (3) to Methemoglobinaemia, type II (MIM# 250800)
Prepair 1000+ v1.1032 CYB5R3 Zornitza Stark Publications for gene: CYB5R3 were set to
Prepair 1000+ v1.1031 GALC Zornitza Stark Marked gene: GALC as ready
Prepair 1000+ v1.1031 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1031 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease, 245200 (3) to Krabbe disease, MIM# 245200; MONDO:0009499
Prepair 1000+ v1.1030 GALC Zornitza Stark Publications for gene: GALC were set to
Prepair 1000+ v1.1029 GORAB Zornitza Stark Marked gene: GORAB as ready
Prepair 1000+ v1.1029 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Prepair 1000+ v1.1029 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271
Prepair 1000+ v1.1028 GORAB Zornitza Stark Publications for gene: GORAB were set to
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815
Prepair 1000+ v1.1026 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from Bruck syndrome 2, 609220 (3) to Bruck syndrome 2, MIM#609220
Prepair 1000+ v1.1024 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)
Prepair 1000+ v1.1022 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)
Prepair 1000+ v1.1020 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710); Microcephaly, Amish type (MIM#607196)
Prepair 1000+ v1.1018 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive to Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505); Pontocerebellar hypoplasia, type 1E (MIM# 619303)
Prepair 1000+ v1.1016 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Prepair 1000+ v1.1015 STIL Zornitza Stark Marked gene: STIL as ready
Prepair 1000+ v1.1015 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Prepair 1000+ v1.1015 STIL Zornitza Stark Phenotypes for gene: STIL were changed from Microcephaly 7, primary, autosomal recessive, 612703 (3) to Microcephaly 7, primary, (MIM# 612703)
Prepair 1000+ v1.1014 STIL Zornitza Stark Publications for gene: STIL were set to
Prepair 1000+ v1.1013 SYP Zornitza Stark Marked gene: SYP as ready
Prepair 1000+ v1.1013 SYP Zornitza Stark Gene: syp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1013 SYP Zornitza Stark Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96 (MIM#300802)
Prepair 1000+ v1.1012 SYP Zornitza Stark Publications for gene: SYP were set to
Prepair 1000+ v1.1011 SYP Zornitza Stark reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1011 LIAS Zornitza Stark Marked gene: LIAS as ready
Prepair 1000+ v1.1011 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Prepair 1000+ v1.1011 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) to Hyperglycinaemia, lactic acidosis, and seizures MIM#614462
Prepair 1000+ v1.1010 LIAS Zornitza Stark Publications for gene: LIAS were set to
Prepair 1000+ v1.1009 LPL Zornitza Stark Marked gene: LPL as ready
Prepair 1000+ v1.1009 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1009 LPL Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600
Prepair 1000+ v1.1008 LRBA Zornitza Stark Marked gene: LRBA as ready
Prepair 1000+ v1.1008 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Prepair 1000+ v1.1008 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Prepair 1000+ v1.1007 LRBA Zornitza Stark Publications for gene: LRBA were set to
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, 252650 (3) to Mucolipidosis IV MIM#252650
Prepair 1000+ v1.1005 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Prepair 1000+ v1.1003 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Prepair 1000+ v1.1002 NAGS Zornitza Stark Marked gene: NAGS as ready
Prepair 1000+ v1.1002 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Prepair 1000+ v1.1002 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310
Prepair 1000+ v1.1001 NAGS Zornitza Stark Publications for gene: NAGS were set to
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Prepair 1000+ v1.999 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
Prepair 1000+ v1.997 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800
Prepair 1000+ v1.995 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive to Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)
Prepair 1000+ v1.993 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Prepair 1000+ v1.992 KIAA0586 Ee Ming Wong reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26386044, 28125082, 36580738, 39063141; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546), Joubert syndrome 23 (MIM#616490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NTRK1 Michelle Torres reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NPC1 Michelle Torres reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301473, 32138288; Phenotypes: Niemann-Pick disease, type C1 MIM#257220, Niemann-Pick disease, type D MIM#257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NKX6-2 Michelle Torres reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679, 30285346; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NDUFS7 Michelle Torres reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771, 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAGS Michelle Torres reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MMACHC Michelle Torres reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301503; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCOLN1 Michelle Torres reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33963976, 32604955; Phenotypes: Mucolipidosis IV MIM#252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCCC1 Michelle Torres reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530, 39188588; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LRBA Michelle Torres reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LPL Michelle Torres reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LIAS Michelle Torres reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SYP Ee Ming Wong reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 STIL Ee Ming Wong changed review comment from: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.; to: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of mutant STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.
Prepair 1000+ v1.992 STIL Ee Ming Wong reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157, 29352115, 24485834; Phenotypes: Microcephaly 7, primary, (MIM# 612703); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A46 Ee Ming Wong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27543974, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505), Pontocerebellar hypoplasia, type 1E (MIM# 619303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A19 Ee Ming Wong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC17A5 Ee Ming Wong reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10947946, 5516337, 33862140; Phenotypes: Sialic acid storage disorder, infantile (MIM#269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 22819833, 20835237, 32432520, 22626039, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993), Senior-Loken syndrome 7 (MIM# 613615); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong Deleted their review
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PLOD2 Shakira Heerah reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM#609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 PHGDH Shakira Heerah reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GORAB Clare Hunt reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19681135, 9018419, 18348262; Phenotypes: Geroderma osteodysplasticum, MIM#231070, MONDO:0009271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GALC Clare Hunt reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637, 21070211, 30899093, 24252386; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYB5R3 Ee Ming Wong reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898843, 38303731; Phenotypes: Methemoglobinemia, type II (MIM# 250800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 LAMA2 Lauren Thomas reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LDHA Michelle Torres reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36292720; Phenotypes: Glycogen storage disease XI MIM#612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KCNE1 Michelle Torres reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM#612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 JUP Michelle Torres reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 34587761; Phenotypes: Naxos disease MIM#601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KATNB1 Lauren Thomas reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 UBE2T Ee Ming Wong reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646888, 26119737, 26046368, 26085575; Phenotypes: Fanconi anemia, complementation group T (MIM#616435); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 IL10RB Michelle Torres reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IGHMBP2 Michelle Torres reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34785121, 25439726; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320, Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TBX22 Ee Ming Wong changed review comment from: 1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ClinGen lumps all 3 conditions under spastic paraplegia 11

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

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

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

These 3 conditions represent a spectrum of disease and ClinGen lumps all 3 conditions under hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.525 CTPS1 Zornitza Stark Tag founder tag was added to gene: CTPS1.
Prepair 1000+ v1.525 DMD Zornitza Stark Marked gene: DMD as ready
Prepair 1000+ v1.525 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Prepair 1000+ v1.525 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200 (3) to Becker muscular dystrophy MIM#300376; Duchenne muscular dystrophy MIM#310200
Prepair 1000+ v1.524 DMD Zornitza Stark Publications for gene: DMD were set to
Prepair 1000+ v1.523 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Prepair 1000+ v1.523 CTNS Zornitza Stark Marked gene: CTNS as ready
Prepair 1000+ v1.523 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Prepair 1000+ v1.523 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis, nephropathic, 219800 (3) to Cystinosis, nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, atypical nephropathic MIM#219800
Prepair 1000+ v1.522 CTNS Zornitza Stark Publications for gene: CTNS were set to
Prepair 1000+ v1.521 CTNS Zornitza Stark Tag SV/CNV tag was added to gene: CTNS.
Prepair 1000+ v1.521 TSPYL1 Zornitza Stark Tag review tag was added to gene: TSPYL1.
Prepair 1000+ v1.521 GOSR2 Andrew Coventry reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340 33639315 1549339 23449775 24458321 30838261 32105965; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, Muscular dystrophy, congenital, with or without seizures MIM#620166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 GLB1 Andrew Coventry reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34539759 24156116 16941474 17309651 25936995 32219518 1928092 33558080 10841810; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM#230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Ciliary dyskinesia, primary, 15, 613808 (3) to Ciliary dyskinesia, primary, 15 MIM#613808
Prepair 1000+ v1.520 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Prepair 1000+ v1.519 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Prepair 1000+ v1.519 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Prepair 1000+ v1.519 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence, 208150 (3) to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326; Fetal akinesia deformation sequence 2 MIM#618388
Prepair 1000+ v1.518 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Prepair 1000+ v1.517 REEP6 Zornitza Stark Marked gene: REEP6 as ready
Prepair 1000+ v1.517 REEP6 Zornitza Stark Gene: reep6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.517 REEP6 Zornitza Stark Phenotypes for gene: REEP6 were changed from Retinitis pigmentosa 77, 617304 (3), Autosomal recessive to Retinitis pigmentosa 77 MIM#617304
Prepair 1000+ v1.516 REN Zornitza Stark Marked gene: REN as ready
Prepair 1000+ v1.516 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Prepair 1000+ v1.516 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis, 267430 (3) to Renal tubular dysgenesis MIM#267430
Prepair 1000+ v1.515 RLIM Zornitza Stark Marked gene: RLIM as ready
Prepair 1000+ v1.515 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Prepair 1000+ v1.515 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from Mental retardation, X-linked 61, 300978 (3), X-linked recessive to Tonne-Kalscheuer syndrome MIM#300978
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive to Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 (3) to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease, type 4C, 601596 (3) to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome MIM#256500
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Tag SV/CNV tag was added to gene: TANGO2.
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from Ciliary dyskinesia, primary, 2, 606763 (3) to Ciliary dyskinesia, primary, 2, MIM#606763
Prepair 1000+ v1.508 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425
Prepair 1000+ v1.506 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Prepair 1000+ v1.505 FANCF Zornitza Stark Marked gene: FANCF as ready
Prepair 1000+ v1.505 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Prepair 1000+ v1.505 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467 (3) to Fanconi anaemia, complementation group F, MIM#603467
Prepair 1000+ v1.504 FANCF Zornitza Stark Publications for gene: FANCF were set to
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency, 613068 (3) to Neurodegeneration due to cerebral folate transport deficiency, MIM#613068
Prepair 1000+ v1.502 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) to Myasthenia, congenital, 12, with tubular aggregates, MIM#610542
Prepair 1000+ v1.500 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A, 276902 (3) to Usher syndrome, type 3A (MIM#276902)
Prepair 1000+ v1.498 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Marked gene: COL27A1 as ready
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Gene: col27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel Syndrome, MIM#615155
Prepair 1000+ v1.496 COL27A1 Zornitza Stark Publications for gene: COL27A1 were set to
Prepair 1000+ v1.495 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Prepair 1000+ v1.495 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.495 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Prepair 1000+ v1.494 DDC Zornitza Stark Marked gene: DDC as ready
Prepair 1000+ v1.494 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Prepair 1000+ v1.494 DDC Zornitza Stark Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 (3) to Aromatic L-amino acid decarboxylase deficiency 608643; Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Prepair 1000+ v1.493 DLD Zornitza Stark Marked gene: DLD as ready
Prepair 1000+ v1.493 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Prepair 1000+ v1.493 DLD Zornitza Stark Publications for gene: DLD were set to
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Prepair 1000+ v1.491 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Prepair 1000+ v1.491 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Marked gene: DONSON as ready
Prepair 1000+ v1.491 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604)
Prepair 1000+ v1.490 DONSON Zornitza Stark Publications for gene: DONSON were set to
Prepair 1000+ v1.489 COX15 Zornitza Stark Marked gene: COX15 as ready
Prepair 1000+ v1.489 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.489 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Prepair 1000+ v1.488 COX15 Zornitza Stark Publications for gene: COX15 were set to
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
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 changed review comment from: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature,
hip dislocation, radial head dislocation, and carpal coalition; to: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition
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 Deleted their review
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+ v1.486 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Prepair 1000+ v1.486 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Prepair 1000+ v1.486 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Prepair 1000+ v1.485 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, 612780 (3) to SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005
Prepair 1000+ v1.483 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Prepair 1000+ v1.481 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to
Prepair 1000+ v1.480 KPTN Zornitza Stark Marked gene: KPTN as ready
Prepair 1000+ v1.480 KPTN Zornitza Stark Gene: kptn has been classified as Green List (High Evidence).
Prepair 1000+ v1.480 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 (3) to Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)
Prepair 1000+ v1.479 KPTN Zornitza Stark Publications for gene: KPTN were set to
Prepair 1000+ v1.478 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Prepair 1000+ v1.478 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.478 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive to Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245
Prepair 1000+ v1.477 KRT10 Zornitza Stark Publications for gene: KRT10 were set to
Prepair 1000+ v1.476 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Prepair 1000+ v1.476 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.476 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976
Prepair 1000+ v1.475 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Prepair 1000+ v1.474 ADA Zornitza Stark Marked gene: ADA as ready
Prepair 1000+ v1.474 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Prepair 1000+ v1.474 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial, 102700 (3) to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700
Prepair 1000+ v1.473 ADA Zornitza Stark Publications for gene: ADA were set to
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
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+ v1.471 LAT Zornitza Stark Marked gene: LAT as ready
Prepair 1000+ v1.471 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Prepair 1000+ v1.471 LAT Zornitza Stark Publications for gene: LAT were set to 27522155; 27242165
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 changed review comment from: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients
RAPADILINO Syndrome
- 10 finnish families
○ Short stature
○ Radial ray defects
○ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607); to: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients

RAPADILINO Syndrome
- 10 finnish families
○ Short stature
○ Radial ray defects
○ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607)
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+ v1.470 WDR60 Lilian Downie Marked gene: WDR60 as ready
Prepair 1000+ v1.470 WDR60 Lilian Downie Gene: wdr60 has been classified as Green List (High Evidence).
Prepair 1000+ v1.470 WDR60 Lilian Downie Publications for gene: WDR60 were set to
Prepair 1000+ v1.469 YARS2 Lilian Downie Marked gene: YARS2 as ready
Prepair 1000+ v1.469 YARS2 Lilian Downie Gene: yars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.469 YARS2 Lilian Downie Publications for gene: YARS2 were set to
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Marked gene: ZFYVE26 as ready
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Gene: zfyve26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Publications for gene: ZFYVE26 were set to
Prepair 1000+ v1.467 AGBL5 Lilian Downie Marked gene: AGBL5 as ready
Prepair 1000+ v1.467 AGBL5 Lilian Downie Gene: agbl5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.467 AGBL5 Lilian Downie Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa 75, 617023 (3), Autosomal recessive to Retinitis pigmentosa 75, 617023
Prepair 1000+ v1.466 AGBL5 Lilian Downie Publications for gene: AGBL5 were set to
Prepair 1000+ v1.465 AGT Lilian Downie Marked gene: AGT as ready
Prepair 1000+ v1.465 AGT Lilian Downie Gene: agt has been classified as Green List (High Evidence).
Prepair 1000+ v1.465 AGT Lilian Downie Publications for gene: AGT were set to
Prepair 1000+ v1.464 AIMP1 Lilian Downie Marked gene: AIMP1 as ready
Prepair 1000+ v1.464 AIMP1 Lilian Downie Gene: aimp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.464 AIMP1 Lilian Downie Publications for gene: AIMP1 were set to
Prepair 1000+ v1.463 ASL Lilian Downie Marked gene: ASL as ready
Prepair 1000+ v1.463 ASL Lilian Downie Gene: asl has been classified as Green List (High Evidence).
Prepair 1000+ v1.463 ASL Lilian Downie Publications for gene: ASL were set to
Prepair 1000+ v1.462 ATCAY Lilian Downie Marked gene: ATCAY as ready
Prepair 1000+ v1.462 ATCAY Lilian Downie Gene: atcay has been classified as Green List (High Evidence).
Prepair 1000+ v1.462 ATCAY Lilian Downie Publications for gene: ATCAY were set to
Prepair 1000+ v1.461 CDC45 Lilian Downie Marked gene: CDC45 as ready
Prepair 1000+ v1.461 CDC45 Lilian Downie Gene: cdc45 has been classified as Green List (High Evidence).
Prepair 1000+ v1.461 CDC45 Lilian Downie Phenotypes for gene: CDC45 were changed from Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive to Meier-Gorlin syndrome 7, 617063
Prepair 1000+ v1.460 CDC45 Lilian Downie Publications for gene: CDC45 were set to
Prepair 1000+ v1.459 CHAT Lilian Downie Marked gene: CHAT as ready
Prepair 1000+ v1.459 CHAT Lilian Downie Gene: chat has been classified as Green List (High Evidence).
Prepair 1000+ v1.459 CHAT Lilian Downie Publications for gene: CHAT were set to
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+ v1.457 CNTNAP2 Lilian Downie Marked gene: CNTNAP2 as ready
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Gene: cntnap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, 610042 (3) to Pitt-Hopkins like syndrome 1 MIM#610042
Prepair 1000+ v1.456 CNTNAP2 Lilian Downie Publications for gene: CNTNAP2 were set to
Prepair 1000+ v1.455 COG5 Lilian Downie Marked gene: COG5 as ready
Prepair 1000+ v1.455 COG5 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.455 COG5 Lilian Downie Gene: cog5 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.455 COG5 Lilian Downie Tag for review tag was added to gene: COG5.
Prepair 1000+ v1.455 CABP4 Lilian Downie Marked gene: CABP4 as ready
Prepair 1000+ v1.455 CABP4 Lilian Downie Gene: cabp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to 16960802; 19074807; 20157620
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to
Prepair 1000+ v1.454 CAPN3 Lilian Downie Marked gene: CAPN3 as ready
Prepair 1000+ v1.454 CAPN3 Lilian Downie Gene: capn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.454 CAPN3 Lilian Downie Publications for gene: CAPN3 were set to
Prepair 1000+ v1.453 CLPP Lilian Downie Marked gene: CLPP as ready
Prepair 1000+ v1.453 CLPP Lilian Downie Gene: clpp has been classified as Green List (High Evidence).
Prepair 1000+ v1.453 CLPP Lilian Downie Publications for gene: CLPP were set to
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Marked gene: DNAAF5 as ready
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Gene: dnaaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Publications for gene: DNAAF5 were set to
Prepair 1000+ v1.451 COL11A1 Lilian Downie Marked gene: COL11A1 as ready
Prepair 1000+ v1.451 COL11A1 Lilian Downie Gene: col11a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.451 COL11A1 Lilian Downie Publications for gene: COL11A1 were set to
Prepair 1000+ v1.450 CRLF1 Lilian Downie Marked gene: CRLF1 as ready
Prepair 1000+ v1.450 CRLF1 Lilian Downie Gene: crlf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.449 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to
Prepair 1000+ v1.448 CTC1 Lilian Downie Marked gene: CTC1 as ready
Prepair 1000+ v1.448 CTC1 Lilian Downie Gene: ctc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.448 CTC1 Lilian Downie Publications for gene: CTC1 were set to
Prepair 1000+ v1.447 CYBB Lilian Downie Marked gene: CYBB as ready
Prepair 1000+ v1.447 CYBB Lilian Downie Gene: cybb has been classified as Green List (High Evidence).
Prepair 1000+ v1.447 CYBB Lilian Downie Publications for gene: CYBB were set to
Prepair 1000+ v1.446 EML1 Lilian Downie Marked gene: EML1 as ready
Prepair 1000+ v1.446 EML1 Lilian Downie Gene: eml1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.446 EML1 Lilian Downie Publications for gene: EML1 were set to
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Marked gene: CYP1B1 as ready
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Gene: cyp1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Phenotypes for gene: CYP1B1 were changed from Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300; Anterior segment dysgenesis 6, multiple subtypes, MIM#617315
Prepair 1000+ v1.444 CYP1B1 Lilian Downie Publications for gene: CYP1B1 were set to
Prepair 1000+ v1.443 ECEL1 Lilian Downie Marked gene: ECEL1 as ready
Prepair 1000+ v1.443 ECEL1 Lilian Downie Gene: ecel1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.443 ECEL1 Lilian Downie Publications for gene: ECEL1 were set to
Prepair 1000+ v1.442 ETHE1 Lilian Downie Marked gene: ETHE1 as ready
Prepair 1000+ v1.442 ETHE1 Lilian Downie Gene: ethe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.442 ETHE1 Lilian Downie Publications for gene: ETHE1 were set to
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Marked gene: EXOSC8 as ready
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Gene: exosc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Publications for gene: EXOSC8 were set to
Prepair 1000+ v1.440 FANCG Lilian Downie Marked gene: FANCG as ready
Prepair 1000+ v1.440 FANCG Lilian Downie Gene: fancg has been classified as Green List (High Evidence).
Prepair 1000+ v1.440 FANCG Lilian Downie Publications for gene: FANCG were set to
Prepair 1000+ v1.439 FANCI Lilian Downie Marked gene: FANCI as ready
Prepair 1000+ v1.439 FANCI Lilian Downie Gene: fanci has been classified as Green List (High Evidence).
Prepair 1000+ v1.439 FANCI Lilian Downie Publications for gene: FANCI were set to
Prepair 1000+ v1.438 FBLN5 Lilian Downie Marked gene: FBLN5 as ready
Prepair 1000+ v1.438 FBLN5 Lilian Downie Gene: fbln5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.438 FBLN5 Lilian Downie Publications for gene: FBLN5 were set to
Prepair 1000+ v1.437 FLNB Lilian Downie Marked gene: FLNB as ready
Prepair 1000+ v1.437 FLNB Lilian Downie Gene: flnb has been classified as Green List (High Evidence).
Prepair 1000+ v1.437 FLNB Lilian Downie Publications for gene: FLNB were set to
Prepair 1000+ v1.436 GALNS Lilian Downie Marked gene: GALNS as ready
Prepair 1000+ v1.436 GALNS Lilian Downie Gene: galns has been classified as Green List (High Evidence).
Prepair 1000+ v1.436 GALNS Lilian Downie Publications for gene: GALNS were set to
Prepair 1000+ v1.435 GPHN Lilian Downie Marked gene: GPHN as ready
Prepair 1000+ v1.435 GPHN Lilian Downie Gene: gphn has been classified as Green List (High Evidence).
Prepair 1000+ v1.435 GPHN Lilian Downie Publications for gene: GPHN were set to
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Marked gene: HSD3B2 as ready
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Gene: hsd3b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Phenotypes for gene: HSD3B2 were changed from 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810
Prepair 1000+ v1.433 HSD3B2 Lilian Downie Publications for gene: HSD3B2 were set to
Prepair 1000+ v1.432 HTRA2 Lilian Downie Marked gene: HTRA2 as ready
Prepair 1000+ v1.432 HTRA2 Lilian Downie Gene: htra2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.432 HTRA2 Lilian Downie Publications for gene: HTRA2 were set to
Prepair 1000+ v1.431 HUWE1 Lilian Downie Marked gene: HUWE1 as ready
Prepair 1000+ v1.431 HUWE1 Lilian Downie Gene: huwe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.431 HUWE1 Lilian Downie Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706 (3) to Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590
Prepair 1000+ v1.430 HUWE1 Lilian Downie Publications for gene: HUWE1 were set to
Prepair 1000+ v1.429 IFT122 Lilian Downie Marked gene: IFT122 as ready
Prepair 1000+ v1.429 IFT122 Lilian Downie Gene: ift122 has been classified as Green List (High Evidence).
Prepair 1000+ v1.429 IFT122 Lilian Downie Publications for gene: IFT122 were set to
Prepair 1000+ v1.428 KIF1BP Lilian Downie Marked gene: KIF1BP as ready
Prepair 1000+ v1.428 KIF1BP Lilian Downie Gene: kif1bp has been classified as Green List (High Evidence).
Prepair 1000+ v1.428 KIF1BP Lilian Downie Publications for gene: KIF1BP were set to
Prepair 1000+ v1.427 ITGB4 Lilian Downie Marked gene: ITGB4 as ready
Prepair 1000+ v1.427 ITGB4 Lilian Downie Gene: itgb4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.427 ITGB4 Lilian Downie Publications for gene: ITGB4 were set to
Prepair 1000+ v1.426 KLHL41 Lilian Downie Marked gene: KLHL41 as ready
Prepair 1000+ v1.426 KLHL41 Lilian Downie Gene: klhl41 has been classified as Green List (High Evidence).
Prepair 1000+ v1.426 KLHL41 Lilian Downie Publications for gene: KLHL41 were set to
Prepair 1000+ v1.425 COL18A1 Lilian Downie Marked gene: COL18A1 as ready
Prepair 1000+ v1.425 COL18A1 Lilian Downie Gene: col18a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.425 COL18A1 Lilian Downie Publications for gene: COL18A1 were set to
Prepair 1000+ v1.424 COL6A1 Lilian Downie Marked gene: COL6A1 as ready
Prepair 1000+ v1.424 COL6A1 Lilian Downie Gene: col6a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.424 COL6A1 Lilian Downie Publications for gene: COL6A1 were set to
Prepair 1000+ v1.423 CPS1 Lilian Downie Marked gene: CPS1 as ready
Prepair 1000+ v1.423 CPS1 Lilian Downie Gene: cps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.423 CPS1 Lilian Downie Publications for gene: CPS1 were set to
Prepair 1000+ v1.422 PEX3 Lilian Downie Marked gene: PEX3 as ready
Prepair 1000+ v1.422 PEX3 Lilian Downie Gene: pex3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.422 PEX3 Lilian Downie Phenotypes for gene: PEX3 were changed from Peroxisome biogenesis disorder 10A (Zellweger), 614882 to Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Peroxisome biogenesis disorder 10B MIM#617370; Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261
Prepair 1000+ v1.421 PEX3 Lilian Downie Publications for gene: PEX3 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 edited their review of gene: ASL: Added comment: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry Deleted their comment
Prepair 1000+ v1.420 ASL Andrew Coventry changed review comment from: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; to: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association
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+ v1.420 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex 1 deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 16 MIM#618238
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Prepair 1000+ v1.414 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Prepair 1000+ v1.414 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Prepair 1000+ v1.414 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3) to Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219
Prepair 1000+ v1.413 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Prepair 1000+ v1.413 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Prepair 1000+ v1.413 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360
Prepair 1000+ v1.412 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Prepair 1000+ v1.412 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.412 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, 615084 (3) to Mitochondrial DNA depletion syndrome 11, MIM#615084
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Marked gene: LPIN2 as ready
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Gene: lpin2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628 (3) to Majeed syndrome MIM#609628
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Prepair 1000+ v1.409 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Prepair 1000+ v1.408 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Prepair 1000+ v1.408 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.408 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Prepair 1000+ v1.407 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Prepair 1000+ v1.406 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Prepair 1000+ v1.406 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Prepair 1000+ v1.406 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Prepair 1000+ v1.405 CLPB Zornitza Stark Marked gene: CLPB as ready
Prepair 1000+ v1.405 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.405 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Prepair 1000+ v1.404 CLPB Zornitza Stark Publications for gene: CLPB were set to
Prepair 1000+ v1.403 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Prepair 1000+ v1.403 TPM3 Zornitza Stark Gene: tpm3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.403 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) to Congenital myopathy 4B, autosomal recessive MIM#609284
Prepair 1000+ v1.402 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
Prepair 1000+ v1.401 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Prepair 1000+ v1.401 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.401 TPI1 Zornitza Stark Phenotypes for gene: TPI1 were changed from Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512
Prepair 1000+ v1.400 TPI1 Zornitza Stark Publications for gene: TPI1 were set to
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000
Prepair 1000+ v1.398 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Prepair 1000+ v1.397 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Prepair 1000+ v1.397 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.397 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957
Prepair 1000+ v1.396 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671
Prepair 1000+ v1.394 CLDN10 Zornitza Stark Publications for gene: CLDN10 were set to
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+ v1.393 CFP Zornitza Stark Marked gene: CFP as ready
Prepair 1000+ v1.393 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Prepair 1000+ v1.393 CFP Zornitza Stark Publications for gene: CFP were set to
Prepair 1000+ v1.392 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Prepair 1000+ v1.392 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.392 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Usher syndrome, type 1D, 601067 (3) to Usher syndrome, type 1D (MIM#601067)
Prepair 1000+ v1.391 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
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+ v1.390 BBS10 Lilian Downie Marked gene: BBS10 as ready
Prepair 1000+ v1.390 BBS10 Lilian Downie Gene: bbs10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.390 BBS10 Lilian Downie Publications for gene: BBS10 were set to
Prepair 1000+ v1.389 BSCL2 Lilian Downie Marked gene: BSCL2 as ready
Prepair 1000+ v1.389 BSCL2 Lilian Downie Gene: bscl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.389 BSCL2 Lilian Downie Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) to Encephalopathy, progressive, with or without lipodystrophy (MIM#615924); Lipodystrophy, congenital generalized, type 2 (MIM#269700)
Prepair 1000+ v1.388 BSCL2 Lilian Downie Publications for gene: BSCL2 were set to
Prepair 1000+ v1.387 C5 Lilian Downie Marked gene: C5 as ready
Prepair 1000+ v1.387 C5 Lilian Downie Gene: c5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.387 C5 Lilian Downie Publications for gene: C5 were set to
Prepair 1000+ v1.386 CARS2 Lilian Downie Marked gene: CARS2 as ready
Prepair 1000+ v1.386 CARS2 Lilian Downie Gene: cars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.386 CARS2 Lilian Downie Publications for gene: CARS2 were set to
Prepair 1000+ v1.385 SGPL1 Lilian Downie Marked gene: SGPL1 as ready
Prepair 1000+ v1.385 SGPL1 Lilian Downie Gene: sgpl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.385 SGPL1 Lilian Downie Publications for gene: SGPL1 were set to
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+ v1.384 TSPYL1 Lilian Downie Marked gene: TSPYL1 as ready
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Added comment: Comment when marking as ready: Originally reported only in Amish community, founder variant
subsequently reported in 3 unrelated families, non amish - GREEN AT UPGRADE
2 cohort studies looking for variants in this gene in SIDS cohorts but it's very rare and presents with more of a progressive neurological phenotype in the non Amish families
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Gene: tspyl1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Publications for gene: TSPYL1 were set to
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Marked gene: SLC38A8 as ready
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Gene: slc38a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Publications for gene: SLC38A8 were set to
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Marked gene: NDUFS8 as ready
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Gene: ndufs8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Phenotypes for gene: NDUFS8 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)
Prepair 1000+ v1.381 NDUFS8 Lilian Downie Publications for gene: NDUFS8 were set to
Prepair 1000+ v1.380 NGF Lilian Downie Marked gene: NGF as ready
Prepair 1000+ v1.380 NGF Lilian Downie Gene: ngf has been classified as Green List (High Evidence).
Prepair 1000+ v1.380 NGF Lilian Downie Publications for gene: NGF were set to
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Marked gene: NECTIN1 as ready
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Gene: nectin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Publications for gene: NECTIN1 were set to
Prepair 1000+ v1.378 FGA Lilian Downie Marked gene: FGA as ready
Prepair 1000+ v1.378 FGA Lilian Downie Gene: fga has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGB Lilian Downie Marked gene: FGB as ready
Prepair 1000+ v1.378 FGB Lilian Downie Gene: fgb has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Marked gene: FGG as ready
Prepair 1000+ v1.378 FGG Lilian Downie Gene: fgg has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Publications for gene: FGG were set to
Prepair 1000+ v1.377 GNPTAB Lilian Downie Marked gene: GNPTAB as ready
Prepair 1000+ v1.377 GNPTAB Lilian Downie Gene: gnptab has been classified as Green List (High Evidence).
Prepair 1000+ v1.377 GNPTAB Lilian Downie Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta, 252600 (3) to Mucolipidosis III alpha/beta MIM#252600; Mucolipidosis II alpha/beta MIM#252500
Prepair 1000+ v1.376 GNPTAB Lilian Downie Publications for gene: GNPTAB were set to
Prepair 1000+ v1.375 GSS Lilian Downie Marked gene: GSS as ready
Prepair 1000+ v1.375 GSS Lilian Downie Gene: gss has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Marked gene: HADHB as ready
Prepair 1000+ v1.375 HADHB Lilian Downie Gene: hadhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300
Prepair 1000+ v1.374 HLCS Lilian Downie Marked gene: HLCS as ready
Prepair 1000+ v1.374 HLCS Lilian Downie Gene: hlcs has been classified as Green List (High Evidence).
Prepair 1000+ v1.374 HLCS Lilian Downie Publications for gene: HLCS were set to
Prepair 1000+ v1.373 HPS5 Lilian Downie Marked gene: HPS5 as ready
Prepair 1000+ v1.373 HPS5 Lilian Downie Gene: hps5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Marked gene: KCTD7 as ready
Prepair 1000+ v1.373 KCTD7 Lilian Downie Gene: kctd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Publications for gene: KCTD7 were set to
Prepair 1000+ v1.372 LARS Lilian Downie Marked gene: LARS as ready
Prepair 1000+ v1.372 LARS Lilian Downie Gene: lars has been classified as Green List (High Evidence).
Prepair 1000+ v1.372 LARS Lilian Downie Publications for gene: LARS were set to
Prepair 1000+ v1.371 PNKP Lilian Downie Marked gene: PNKP as ready
Prepair 1000+ v1.371 PNKP Lilian Downie Gene: pnkp has been classified as Green List (High Evidence).
Prepair 1000+ v1.371 PNKP Lilian Downie Added comment: Comment on phenotypes: CMT phenotype is usually onset in 30's but childhood onset has been reported.
Prepair 1000+ v1.371 PNKP Lilian Downie Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Charcot-Marie-Tooth disease, type 2B2 MIM#605589; Ataxia-oculomotor apraxia 4 MIM#616267; Microcephaly, seizures, and developmental delay MIM#613402
Prepair 1000+ v1.370 PNKP Lilian Downie Publications for gene: PNKP were set to
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Marked gene: CYP27A1 as ready
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Added comment: Comment when marking as ready: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. (OMIM)
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Gene: cyp27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Publications for gene: CYP27A1 were set to
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Marked gene: CYP7B1 as ready
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Gene: cyp7b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)
Prepair 1000+ v1.367 CYP7B1 Lilian Downie Publications for gene: CYP7B1 were set to
Prepair 1000+ v1.366 OCRL Lilian Downie Marked gene: OCRL as ready
Prepair 1000+ v1.366 OCRL Lilian Downie Gene: ocrl has been classified as Green List (High Evidence).
Prepair 1000+ v1.366 OCRL Lilian Downie Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000
Prepair 1000+ v1.365 OCRL Lilian Downie Publications for gene: OCRL were set to
Prepair 1000+ v1.364 PKHD1 Lilian Downie Marked gene: PKHD1 as ready
Prepair 1000+ v1.364 PKHD1 Lilian Downie Gene: pkhd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.364 PKHD1 Lilian Downie Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Prepair 1000+ v1.363 PKHD1 Lilian Downie Publications for gene: PKHD1 were set to
Prepair 1000+ v1.362 DHCR7 Lilian Downie Marked gene: DHCR7 as ready
Prepair 1000+ v1.362 DHCR7 Lilian Downie Gene: dhcr7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.362 DHCR7 Lilian Downie Publications for gene: DHCR7 were set to
Prepair 1000+ v1.361 ALPL Lilian Downie Marked gene: ALPL as ready
Prepair 1000+ v1.361 ALPL Lilian Downie Gene: alpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.361 ALPL Lilian Downie Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500 (3) to Hypophosphatasia, childhood (MIM#241510); Hypophosphatasia, infantile (MIM#241500)
Prepair 1000+ v1.360 ALPL Lilian Downie Publications for gene: ALPL were set to
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+ v1.359 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340
Prepair 1000+ v1.358 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, MIM#300919 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Prepair 1000+ v1.357 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971
Prepair 1000+ v1.356 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14, 617575 (3), Autosomal recessive to RENI syndrome (MIM#617575)
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+ v1.355 ALAD Lilian Downie Marked gene: ALAD as ready
Prepair 1000+ v1.355 ALAD Lilian Downie Gene: alad has been classified as Green List (High Evidence).
Prepair 1000+ v1.355 ALAD Lilian Downie Publications for gene: ALAD were set to
Prepair 1000+ v1.354 GAN Lilian Downie Marked gene: GAN as ready
Prepair 1000+ v1.354 GAN Lilian Downie Gene: gan has been classified as Green List (High Evidence).
Prepair 1000+ v1.354 GAN Lilian Downie Publications for gene: GAN were set to
Prepair 1000+ v1.353 ABAT Lilian Downie Marked gene: ABAT as ready
Prepair 1000+ v1.353 ABAT Lilian Downie Gene: abat has been classified as Green List (High Evidence).
Prepair 1000+ v1.353 ABAT Lilian Downie Publications for gene: ABAT were set to
Prepair 1000+ v1.352 GATM Lilian Downie Marked gene: GATM as ready
Prepair 1000+ v1.352 GATM Lilian Downie Gene: gatm has been classified as Green List (High Evidence).
Prepair 1000+ v1.352 GATM Lilian Downie Publications for gene: GATM were set to
Prepair 1000+ v1.351 AMPD2 Lilian Downie Marked gene: AMPD2 as ready
Prepair 1000+ v1.351 AMPD2 Lilian Downie Gene: ampd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.351 AMPD2 Lilian Downie Publications for gene: AMPD2 were set to 23911318
Prepair 1000+ v1.350 AMPD2 Lilian Downie Publications for gene: AMPD2 were set to
Prepair 1000+ v1.349 ASPA Lilian Downie Marked gene: ASPA as ready
Prepair 1000+ v1.349 ASPA Lilian Downie Gene: aspa has been classified as Green List (High Evidence).
Prepair 1000+ v1.349 ASPA Lilian Downie Publications for gene: ASPA were set to
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+ v1.348 HK1 Lilian Downie Marked gene: HK1 as ready
Prepair 1000+ v1.348 HK1 Lilian Downie Added comment: Comment when marking as ready: Caution mutliple phenotypes:

AD phenotype Neurodevelopmental disorder with visual defects and brain anomalies MIM#618547 caused by recurrent variants likely causing gain-of-function c.1370C>T, c.1334C>T, c.1240G>A
(PMID: 38617198)

AR HMSNR Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.
Prepair 1000+ v1.348 HK1 Lilian Downie Gene: hk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.348 HK1 Lilian Downie Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) to Hemolytic anemia due to hexokinase deficiency MIM#235700; Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
Prepair 1000+ v1.347 HK1 Lilian Downie Publications for gene: HK1 were set to
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Marked gene: ATP6V0A2 as ready
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Gene: atp6v0a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Publications for gene: ATP6V0A2 were set to
Prepair 1000+ v1.345 PNPO Lilian Downie Marked gene: PNPO as ready
Prepair 1000+ v1.345 PNPO Lilian Downie Gene: pnpo has been classified as Green List (High Evidence).
Prepair 1000+ v1.345 PNPO Lilian Downie Publications for gene: PNPO were set to
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Marked gene: POMGNT1 as ready
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Added comment: Comment when marking as ready: Isolated RP presentation can start with night blindness in childhood.
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Gene: pomgnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) to 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
Prepair 1000+ v1.343 POMGNT1 Lilian Downie Publications for gene: POMGNT1 were set to
Prepair 1000+ v1.342 PQBP1 Lilian Downie Marked gene: PQBP1 as ready
Prepair 1000+ v1.342 PQBP1 Lilian Downie Gene: pqbp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.342 PQBP1 Lilian Downie Publications for gene: PQBP1 were set to
Prepair 1000+ v1.341 PRG4 Lilian Downie Marked gene: PRG4 as ready
Prepair 1000+ v1.341 PRG4 Lilian Downie Gene: prg4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.341 PRG4 Lilian Downie Publications for gene: PRG4 were set to 10545950; 29397575
Prepair 1000+ v1.340 PRG4 Lilian Downie Publications for gene: PRG4 were set to
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Marked gene: PRUNE1 as ready
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Gene: prune1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Phenotypes for gene: PRUNE1 were changed from Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481
Prepair 1000+ v1.338 PRUNE1 Lilian Downie Publications for gene: PRUNE1 were set to
Prepair 1000+ v1.337 RBM10 Lilian Downie Marked gene: RBM10 as ready
Prepair 1000+ v1.337 RBM10 Lilian Downie Gene: rbm10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.337 RBM10 Lilian Downie Publications for gene: RBM10 were set to
Prepair 1000+ v1.336 RFXAP Lilian Downie Marked gene: RFXAP as ready
Prepair 1000+ v1.336 RFXAP Lilian Downie Gene: rfxap has been classified as Green List (High Evidence).
Prepair 1000+ v1.336 RFXAP Lilian Downie Phenotypes for gene: RFXAP were changed from Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) to MHC class II deficiency 4 MIM#620817
Prepair 1000+ v1.335 RFXAP Lilian Downie Publications for gene: RFXAP were set to
Prepair 1000+ v1.334 SARS2 Lilian Downie Marked gene: SARS2 as ready
Prepair 1000+ v1.334 SARS2 Lilian Downie Gene: sars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.334 SARS2 Lilian Downie Publications for gene: SARS2 were set to
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Marked gene: SLC13A5 as ready
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Gene: slc13a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Phenotypes for gene: SLC13A5 were changed from Epileptic encephalopathy, early infantile, 25, 615905 (3) to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Prepair 1000+ v1.332 SLC13A5 Lilian Downie Publications for gene: SLC13A5 were set to
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Marked gene: SLC2A10 as ready
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Gene: slc2a10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Publications for gene: SLC2A10 were set to
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Marked gene: SLC45A2 as ready
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Added comment: Comment when marking as ready: Gene also known as MATP
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Gene: slc45a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Publications for gene: SLC45A2 were set to 11574907; 14722913; 14961451
Prepair 1000+ v1.329 SLC45A2 Lilian Downie Publications for gene: SLC45A2 were set to
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Marked gene: SLC6A3 as ready
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Gene: slc6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Publications for gene: SLC6A3 were set to
Prepair 1000+ v1.327 SPAG1 Lilian Downie Marked gene: SPAG1 as ready
Prepair 1000+ v1.327 SPAG1 Lilian Downie Gene: spag1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.327 SPAG1 Lilian Downie Publications for gene: SPAG1 were set to
Prepair 1000+ v1.326 SPEG Lilian Downie Marked gene: SPEG as ready
Prepair 1000+ v1.326 SPEG Lilian Downie Gene: speg has been classified as Green List (High Evidence).
Prepair 1000+ v1.326 SPEG Lilian Downie Publications for gene: SPEG were set to 29614691; 30157964; 25087613; 29474540; 31625632; 28624463; 26578207; 30412272
Prepair 1000+ v1.325 STAMBP Lilian Downie Marked gene: STAMBP as ready
Prepair 1000+ v1.325 STAMBP Lilian Downie Gene: stambp has been classified as Green List (High Evidence).
Prepair 1000+ v1.325 STAMBP Lilian Downie Publications for gene: STAMBP were set to
Prepair 1000+ v1.324 STAR Lilian Downie Marked gene: STAR as ready
Prepair 1000+ v1.324 STAR Lilian Downie Gene: star has been classified as Green List (High Evidence).
Prepair 1000+ v1.324 STAR Lilian Downie Publications for gene: STAR were set to
Prepair 1000+ v1.323 TBCE Lilian Downie Marked gene: TBCE as ready
Prepair 1000+ v1.323 TBCE Lilian Downie Gene: tbce has been classified as Green List (High Evidence).
Prepair 1000+ v1.323 TBCE Lilian Downie Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460
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 Deleted their review
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+ v1.322 DYNC2LI1 Lilian Downie Marked gene: DYNC2LI1 as ready
Prepair 1000+ v1.322 DYNC2LI1 Lilian Downie Gene: dync2li1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.322 DYNC2LI1 Lilian Downie Publications for gene: DYNC2LI1 were set to
Prepair 1000+ v1.321 EPCAM Lilian Downie Marked gene: EPCAM as ready
Prepair 1000+ v1.321 EPCAM Lilian Downie Gene: epcam has been classified as Green List (High Evidence).
Prepair 1000+ v1.321 EPCAM Lilian Downie Publications for gene: EPCAM were set to
Prepair 1000+ v1.320 EVC Lilian Downie Marked gene: EVC as ready
Prepair 1000+ v1.320 EVC Lilian Downie Gene: evc has been classified as Green List (High Evidence).
Prepair 1000+ v1.320 EVC Lilian Downie Publications for gene: EVC were set to
Prepair 1000+ v1.319 ERCC2 Lilian Downie Marked gene: ERCC2 as ready
Prepair 1000+ v1.319 ERCC2 Lilian Downie Gene: ercc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.319 ERCC2 Lilian Downie Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730
Prepair 1000+ v1.318 ERCC2 Lilian Downie Publications for gene: ERCC2 were set to
Prepair 1000+ v1.317 ABCD1 Lilian Downie Marked gene: ABCD1 as ready
Prepair 1000+ v1.317 ABCD1 Lilian Downie Gene: abcd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.317 ABCD1 Lilian Downie Publications for gene: ABCD1 were set to
Prepair 1000+ v1.316 ACOX1 Lilian Downie Marked gene: ACOX1 as ready
Prepair 1000+ v1.316 ACOX1 Lilian Downie Gene: acox1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.316 ACOX1 Lilian Downie Publications for gene: ACOX1 were set to
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Marked gene: ADAMTS13 as ready
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Gene: adamts13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 (3) to Thrombotic thrombocytopenic purpura, hereditary, MIM#274150
Prepair 1000+ v1.314 ADAMTS13 Lilian Downie Publications for gene: ADAMTS13 were set to 16796708; 34702267
Prepair 1000+ v1.313 ADAMTS13 Lilian Downie Publications for gene: ADAMTS13 were set to
Prepair 1000+ v1.312 AIPL1 Lilian Downie Marked gene: AIPL1 as ready
Prepair 1000+ v1.312 AIPL1 Lilian Downie Gene: aipl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.312 AIPL1 Lilian Downie Phenotypes for gene: AIPL1 were changed from Cone-rod dystrophy, 604393 (3) to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Prepair 1000+ v1.311 AIPL1 Lilian Downie Publications for gene: AIPL1 were set to
Prepair 1000+ v1.310 ALG11 Lilian Downie Marked gene: ALG11 as ready
Prepair 1000+ v1.310 ALG11 Lilian Downie Gene: alg11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.310 ALG11 Lilian Downie Publications for gene: ALG11 were set to
Prepair 1000+ v1.309 ALG8 Lilian Downie Marked gene: ALG8 as ready
Prepair 1000+ v1.309 ALG8 Lilian Downie Gene: alg8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.309 ALG8 Lilian Downie Publications for gene: ALG8 were set to
Prepair 1000+ v1.308 AP3B2 Lilian Downie Marked gene: AP3B2 as ready
Prepair 1000+ v1.308 AP3B2 Lilian Downie Gene: ap3b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.308 AP3B2 Lilian Downie Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive to Developmental and epileptic encephalopathy 48 MIM#617276
Prepair 1000+ v1.307 AP3B2 Lilian Downie Publications for gene: AP3B2 were set to
Prepair 1000+ v1.306 ARPC1B Lilian Downie Marked gene: ARPC1B as ready
Prepair 1000+ v1.306 ARPC1B Lilian Downie Gene: arpc1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.306 ARPC1B Lilian Downie Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718
Prepair 1000+ v1.305 ARPC1B Lilian Downie Publications for gene: ARPC1B were set to
Prepair 1000+ v1.304 ARPC1B Crystle Lee edited their review of gene: ARPC1B: Changed publications: 36708766, 33679784
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 changed review comment from: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP.

LCA is a congenital-onset, rapid and progressive disease leading to severe vision impariment and/or loss of vision.; to: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP.

LCA is a congenital-onset, rapid and progressive disease leading to severe vision impairment and/or loss of vision.
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 ERCC2 Ee Ming Wong changed review comment from: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.; to: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.
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+ v1.304 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Prepair 1000+ v1.304 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.304 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038 (3) to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038
Prepair 1000+ v1.303 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Prepair 1000+ v1.302 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Prepair 1000+ v1.302 GMPPA Zornitza Stark Gene: gmppa has been classified as Green List (High Evidence).
Prepair 1000+ v1.302 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome, 615510 (3) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510)
Prepair 1000+ v1.301 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Prepair 1000+ v1.300 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Prepair 1000+ v1.300 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Prepair 1000+ v1.300 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3) to 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
Prepair 1000+ v1.299 GMPPB Zornitza Stark Publications for gene: GMPPB were set to
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+ v1.298 LCAT Zornitza Stark Marked gene: LCAT as ready
Prepair 1000+ v1.298 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Prepair 1000+ v1.298 LCAT Zornitza Stark Phenotypes for gene: LCAT were changed from Norum disease, 245900 (3) to Norum disease, MIM#245900; Fish-eye disease, MIM# 136120
Prepair 1000+ v1.297 LCAT Zornitza Stark Publications for gene: LCAT were set to
Prepair 1000+ v1.296 LCAT Zornitza Stark Tag for review tag was added to gene: LCAT.
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+ v1.296 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Prepair 1000+ v1.296 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.296 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from Ciliary dyskinesia, primary, 22, 615444 (3) to Ciliary dyskinesia, primary, 22 (MIM#615444)
Prepair 1000+ v1.295 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Prepair 1000+ v1.294 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Prepair 1000+ v1.294 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.294 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, 616586 (3) to Cutis laxa, autosomal recessive, type IIIA (MIM#219150); Spastic paraplegia 9B, autosomal recessive (MIM#616586)
Prepair 1000+ v1.292 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
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+ v1.289 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Prepair 1000+ v1.289 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.289 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to
Prepair 1000+ v1.288 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Prepair 1000+ v1.288 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
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 Deleted their review
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+ v1.287 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Classified gene: COL2A1 as Red List (low evidence)
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Red List (Low Evidence).
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+ v1.286 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Prepair 1000+ v1.286 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.286 GNAT2 Zornitza Stark Phenotypes for gene: GNAT2 were changed from Achromatopsia-4, 613856 (3) to Achromatopsia 4 MIM#613856
Prepair 1000+ v1.285 GNAT2 Zornitza Stark Publications for gene: GNAT2 were set to
Prepair 1000+ v1.284 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Prepair 1000+ v1.284 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.284 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; MONDO:0020692
Prepair 1000+ v1.283 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Prepair 1000+ v1.282 CSTB Lilian Downie Marked gene: CSTB as ready
Prepair 1000+ v1.282 CSTB Lilian Downie Added comment: Comment when marking as ready: downgrade to amber when updating, common variant not detected with WES
Prepair 1000+ v1.282 CSTB Lilian Downie Gene: cstb has been classified as Green List (High Evidence).
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Marked gene: EIF2B4 as ready
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Gene: eif2b4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Publications for gene: EIF2B4 were set to
Prepair 1000+ v1.281 ERBB3 Lilian Downie Marked gene: ERBB3 as ready
Prepair 1000+ v1.281 ERBB3 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.281 ERBB3 Lilian Downie Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.281 ERBB3 Lilian Downie Tag for review tag was added to gene: ERBB3.
Prepair 1000+ v1.281 ERBB3 Lilian Downie Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, 607598 (3) to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180
Prepair 1000+ v1.280 ERBB3 Lilian Downie Publications for gene: ERBB3 were set to
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Marked gene: B3GALNT2 as ready
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Added comment: Comment when marking as ready: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies'
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Gene: b3galnt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Publications for gene: B3GALNT2 were set to
Prepair 1000+ v1.278 EVC2 Lilian Downie Marked gene: EVC2 as ready
Prepair 1000+ v1.278 EVC2 Lilian Downie Gene: evc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.278 EVC2 Lilian Downie Publications for gene: EVC2 were set to
Prepair 1000+ v1.277 FAT4 Lilian Downie Marked gene: FAT4 as ready
Prepair 1000+ v1.277 FAT4 Lilian Downie Gene: fat4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.277 FAT4 Lilian Downie Phenotypes for gene: FAT4 were changed from Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Prepair 1000+ v1.276 FAT4 Lilian Downie Publications for gene: FAT4 were set to
Prepair 1000+ v1.275 FKTN Lilian Downie Marked gene: FKTN as ready
Prepair 1000+ v1.275 FKTN Lilian Downie Gene: fktn has been classified as Green List (High Evidence).
Prepair 1000+ v1.275 FKTN Lilian Downie Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Cardiomyopathy, dilated, 1X MIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588
Prepair 1000+ v1.274 FKTN Lilian Downie Publications for gene: FKTN were set to
Prepair 1000+ v1.273 GDF5 Lilian Downie Marked gene: GDF5 as ready
Prepair 1000+ v1.273 GDF5 Lilian Downie Gene: gdf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.273 GDF5 Lilian Downie Publications for gene: GDF5 were set to
Prepair 1000+ v1.272 FANCC Lilian Downie Marked gene: FANCC as ready
Prepair 1000+ v1.272 FANCC Lilian Downie Added comment: Comment when marking as ready: Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair
Prepair 1000+ v1.272 FANCC Lilian Downie Gene: fancc has been classified as Green List (High Evidence).
Prepair 1000+ v1.272 FANCC Lilian Downie Publications for gene: FANCC were set to
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Marked gene: KCNJ11 as ready
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Added comment: Comment when marking as ready: Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Gene: kcnj11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Publications for gene: KCNJ11 were set to
Prepair 1000+ v1.270 COL4A4 Lilian Downie Marked gene: COL4A4 as ready
Prepair 1000+ v1.270 COL4A4 Lilian Downie Gene: col4a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.270 COL4A4 Lilian Downie Publications for gene: COL4A4 were set to
Prepair 1000+ v1.269 ICOS Lilian Downie Marked gene: ICOS as ready
Prepair 1000+ v1.269 ICOS Lilian Downie Gene: icos has been classified as Green List (High Evidence).
Prepair 1000+ v1.269 ICOS Lilian Downie Publications for gene: ICOS were set to
Prepair 1000+ v1.268 ICOS Lilian Downie Tag SV/CNV tag was added to gene: ICOS.
Prepair 1000+ v1.268 ITGB2 Lilian Downie Marked gene: ITGB2 as ready
Prepair 1000+ v1.268 ITGB2 Lilian Downie Gene: itgb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.268 ITGB2 Lilian Downie Publications for gene: ITGB2 were set to
Prepair 1000+ v1.267 JAK3 Lilian Downie Marked gene: JAK3 as ready
Prepair 1000+ v1.267 JAK3 Lilian Downie Gene: jak3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.267 JAK3 Lilian Downie Publications for gene: JAK3 were set to
Prepair 1000+ v1.266 LAMB1 Lilian Downie Marked gene: LAMB1 as ready
Prepair 1000+ v1.266 LAMB1 Lilian Downie Gene: lamb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.266 LAMB1 Lilian Downie Publications for gene: LAMB1 were set to
Prepair 1000+ v1.265 LGI4 Lilian Downie Marked gene: LGI4 as ready
Prepair 1000+ v1.265 LGI4 Lilian Downie Gene: lgi4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.265 LGI4 Lilian Downie Publications for gene: LGI4 were set to
Prepair 1000+ v1.264 CPT1A Lilian Downie Marked gene: CPT1A as ready
Prepair 1000+ v1.264 CPT1A Lilian Downie Gene: cpt1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.264 CPT1A Lilian Downie Publications for gene: CPT1A were set to
Prepair 1000+ v1.263 CSTB Lilian Downie Tag for review tag was added to gene: CSTB.
Prepair 1000+ v1.263 CSTB Lilian Downie Publications for gene: CSTB were set to
Prepair 1000+ v1.262 CFH Lilian Downie Marked gene: CFH as ready
Prepair 1000+ v1.262 CFH Lilian Downie Added comment: Comment when marking as ready: This deficiency, with biallelic form can cause atypical hemolytic uremic syndrome (HUS), type II or III membranoproliferative glomerulonephritis (MPGN) and increased susceptibility to meningicoccal infection. Can be early onset and severe requiring renal transplant. Variable expression

Gene also known as HF1
Prepair 1000+ v1.262 CFH Lilian Downie Gene: cfh has been classified as Green List (High Evidence).
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+ v1.262 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia, MIM# 248370
Prepair 1000+ v1.261 LMNA Zornitza Stark edited their review of gene: LMNA: Changed phenotypes: Mandibuloacral dysplasia, MIM# 248370
Prepair 1000+ v1.261 GNE Zornitza Stark Marked gene: GNE as ready
Prepair 1000+ v1.261 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Prepair 1000+ v1.261 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757
Prepair 1000+ v1.260 GNE Zornitza Stark Publications for gene: GNE were set to
Prepair 1000+ v1.259 GNE Zornitza Stark Tag for review tag was added to gene: GNE.
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+ v1.259 B9D1 Lilian Downie Marked gene: B9D1 as ready
Prepair 1000+ v1.259 B9D1 Lilian Downie Added comment: Comment when marking as ready: Promote to green when final list confirmed
Prepair 1000+ v1.259 B9D1 Lilian Downie Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.259 B9D1 Lilian Downie Publications for gene: B9D1 were set to 21493627; 24886560; 25920555
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+ v1.258 EPM2A Lilian Downie Marked gene: EPM2A as ready
Prepair 1000+ v1.258 EPM2A Lilian Downie Gene: epm2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.258 EPM2A Lilian Downie Publications for gene: EPM2A were set to 9771710 9931343 11175283 12019207 12560877 14722920; 30947044; 22036712; 16311711; 28818698
Prepair 1000+ v1.257 EPM2A Lilian Downie Publications for gene: EPM2A were set to
Prepair 1000+ v1.256 FREM1 Lilian Downie Marked gene: FREM1 as ready
Prepair 1000+ v1.256 FREM1 Lilian Downie Added comment: Comment when marking as ready: 2 AR phenotypes with this gene - have not been assessed by ClinGen yet but appear to be spectrum of the same condition.
Prepair 1000+ v1.256 FREM1 Lilian Downie Gene: frem1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.256 FREM1 Lilian Downie Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 (3) to Manitoba oculotrichoanal syndrome MIM# 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980
Prepair 1000+ v1.255 FREM1 Lilian Downie Publications for gene: FREM1 were set to 32016392; 21931569; 21507892; 19732862; 20301721; 28111185; 19732862
Prepair 1000+ v1.254 FREM1 Lilian Downie Publications for gene: FREM1 were set to
Prepair 1000+ v1.253 FTO Lilian Downie Marked gene: FTO as ready
Prepair 1000+ v1.253 FTO Lilian Downie Added comment: Comment when marking as ready: Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness
Prepair 1000+ v1.253 FTO Lilian Downie Gene: fto has been classified as Green List (High Evidence).
Prepair 1000+ v1.253 FTO Lilian Downie Publications for gene: FTO were set to
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+ v1.252 FTO Lilian Downie Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) to Growth retardation, developmental delay, facial dysmorphism MIM#612938
Prepair 1000+ v1.251 COL17A1 Lilian Downie Marked gene: COL17A1 as ready
Prepair 1000+ v1.251 COL17A1 Lilian Downie Gene: col17a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.251 COL17A1 Lilian Downie Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) to Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
Prepair 1000+ v1.250 COL17A1 Lilian Downie Publications for gene: COL17A1 were set to
Prepair 1000+ v1.249 GPC6 Lilian Downie Marked gene: GPC6 as ready
Prepair 1000+ v1.249 GPC6 Lilian Downie Gene: gpc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.249 GPC6 Lilian Downie Publications for gene: GPC6 were set to
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 F2 Marta Cifuentes Ochoa changed review comment from: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia.

HGNC approved symbol/name: F2
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families

Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein; to: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia.

HGNC approved symbol/name: F2
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families

Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein

AD forms and multifactorial conditions described for this gene not reportable in screening context
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 changed review comment from: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Marginal for childhood onset condition.

Thrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.; to: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Myopathy then progresses, usually over ~10 year period to then require wheelchair assistance for mobility. Severe condition but onset is marginal for childhood onset screening context.

Thrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.
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 Deleted their review
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+ v1.248 CIB2 Lilian Downie Marked gene: CIB2 as ready
Prepair 1000+ v1.248 CIB2 Lilian Downie Gene: cib2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.248 CIB2 Lilian Downie Phenotypes for gene: CIB2 were changed from Usher syndrome, type IJ, 614869 (3) to Deafness, autosomal recessive 48 MIM#609439
Prepair 1000+ v1.247 CIB2 Lilian Downie Publications for gene: CIB2 were set to
Prepair 1000+ v1.246 CLCF1 Lilian Downie Marked gene: CLCF1 as ready
Prepair 1000+ v1.246 CLCF1 Lilian Downie Gene: clcf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.246 CLCF1 Lilian Downie Publications for gene: CLCF1 were set to
Prepair 1000+ v1.245 CLCN7 Lilian Downie Marked gene: CLCN7 as ready
Prepair 1000+ v1.245 CLCN7 Lilian Downie Gene: clcn7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.245 CLCN7 Lilian Downie Publications for gene: CLCN7 were set to
Prepair 1000+ v1.244 CCDC114 Lilian Downie Marked gene: CCDC114 as ready
Prepair 1000+ v1.244 CCDC114 Lilian Downie Gene: ccdc114 has been classified as Green List (High Evidence).
Prepair 1000+ v1.244 CCDC114 Lilian Downie Publications for gene: CCDC114 were set to
Prepair 1000+ v1.243 CCDC8 Lilian Downie Marked gene: CCDC8 as ready
Prepair 1000+ v1.243 CCDC8 Lilian Downie Added comment: Comment when marking as ready: Primordial dwarfism with normal intelligence, final adult height approx -5SD from the mean, subtle facial dysmorphism
Prepair 1000+ v1.243 CCDC8 Lilian Downie Gene: ccdc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.243 CCDC8 Lilian Downie Tag for review tag was added to gene: CCDC8.
Prepair 1000+ v1.243 CCDC8 Lilian Downie Publications for gene: CCDC8 were set to
Prepair 1000+ v1.242 CHRNG Lilian Downie Marked gene: CHRNG as ready
Prepair 1000+ v1.242 CHRNG Lilian Downie Gene: chrng has been classified as Green List (High Evidence).
Prepair 1000+ v1.242 CHRNG Lilian Downie Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)
Prepair 1000+ v1.241 CHRNG Lilian Downie Publications for gene: CHRNG were set to
Prepair 1000+ v1.240 COQ6 Lilian Downie Marked gene: COQ6 as ready
Prepair 1000+ v1.240 COQ6 Lilian Downie Gene: coq6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.240 COQ6 Lilian Downie Publications for gene: COQ6 were set to
Prepair 1000+ v1.239 COQ8A Lilian Downie Marked gene: COQ8A as ready
Prepair 1000+ v1.239 COQ8A Lilian Downie Gene: coq8a has been classified as Green List (High Evidence).
Prepair 1000+ v1.239 COQ8A Lilian Downie Publications for gene: COQ8A were set to
Prepair 1000+ v1.238 COQ2 Lilian Downie Marked gene: COQ2 as ready
Prepair 1000+ v1.238 COQ2 Lilian Downie Gene: coq2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.238 COQ2 Lilian Downie Publications for gene: COQ2 were set to
Prepair 1000+ v1.237 CRTAP Lilian Downie Marked gene: CRTAP as ready
Prepair 1000+ v1.237 CRTAP Lilian Downie Gene: crtap has been classified as Green List (High Evidence).
Prepair 1000+ v1.237 CRTAP Lilian Downie Publications for gene: CRTAP were set to
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 Deleted their review
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 changed review comment from: Severe early in life, can result in death. Features typically improve after 2 years.; to: Severe early in life and can result in early death.
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+ v1.236 DYSF Zornitza Stark Marked gene: DYSF as ready
Prepair 1000+ v1.236 DYSF Zornitza Stark Gene: dysf has been classified as Green List (High Evidence).
Prepair 1000+ v1.236 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601 (3) to 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
Prepair 1000+ v1.235 DYSF Zornitza Stark Publications for gene: DYSF were set to
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+ v1.234 DYSF Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.234 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Prepair 1000+ v1.234 SURF1 Zornitza Stark Added comment: Comment when marking as ready: Agree Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 is the appropriate term to use.
Prepair 1000+ v1.234 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.234 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Prepair 1000+ v1.233 YIF1B Zornitza Stark Marked gene: YIF1B as ready
Prepair 1000+ v1.233 YIF1B Zornitza Stark Gene: yif1b has been classified as Red List (Low Evidence).
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+ v1.232 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Prepair 1000+ v1.232 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.232 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Prepair 1000+ v1.232 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.232 AFF2 Zornitza Stark Marked gene: AFF2 as ready
Prepair 1000+ v1.232 AFF2 Zornitza Stark Gene: aff2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.232 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type, #309548 to Intellectual disability, X-linked, FRAXE type 309548
Prepair 1000+ v1.231 AFF2 Zornitza Stark Publications for gene: AFF2 were set to
Prepair 1000+ v1.230 AFF2 Zornitza Stark Classified gene: AFF2 as Amber List (moderate evidence)
Prepair 1000+ v1.230 AFF2 Zornitza Stark Gene: aff2 has been classified as Amber List (Moderate Evidence).
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 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Prepair 1000+ v1.229 ACY1 Zornitza Stark Gene: acy1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa Deleted their comment
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa commented on gene: DYSF: Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founder mutations such as Libyan and Israeli Jewish population, Italian and Spanish populations.The typical age of onset of MM lies between 15 and 30 years

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

Myopathy, distal, with anterior tibial onset is a rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

HGNC approved symbol/name: DYSF
Is the phenotype(s) severe and onset <18yo ? ? chidhood, early adulthood to late onset
Known technical challenges? N but large‐scale copy number variants have been identified.
Gene reported in >3 independent families

Unsure due genotype/phenotype correlation and onset
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+ v1.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Prepair 1000+ v1.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.229 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Prepair 1000+ v1.228 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, 606593 (3) to LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Prepair 1000+ v1.227 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Prepair 1000+ v1.226 LIG4 Zornitza Stark commented on gene: LIG4: Congenital onset, presents with combined immunodeficiency and features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay.
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+ v1.226 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Prepair 1000+ v1.226 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.226 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to
Prepair 1000+ v1.225 CHM Zornitza Stark Tag for review tag was added to gene: CHM.
Prepair 1000+ v1.225 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Prepair 1000+ v1.225 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.225 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, 604928 (3) to Wolfram syndrome 2 MIM#604928; MONDO:0011502
Prepair 1000+ v1.224 CISD2 Zornitza Stark Publications for gene: CISD2 were set to
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651 (3) to Leukoencephalopathy with ataxia MIM#615651; leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292
Prepair 1000+ v1.222 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Prepair 1000+ v1.221 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Prepair 1000+ v1.221 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.221 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, 204200 (3) to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Prepair 1000+ v1.220 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 3b, autosomal recessive MIM#620536; MONDO:0957811
Prepair 1000+ v1.218 COL4A3 Zornitza Stark Publications for gene: COL4A3 were set to
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from 3MC syndrome 2, 265050 (3) to 3MC syndrome 2, MIM# 265050; MONDO:0009927
Prepair 1000+ v1.216 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Prepair 1000+ v1.215 COLQ Zornitza Stark Marked gene: COLQ as ready
Prepair 1000+ v1.215 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Prepair 1000+ v1.215 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 (3) to Myasthenic syndrome, congenital, 5 MIM#603034; MONDO:0011281
Prepair 1000+ v1.214 COLQ Zornitza Stark Publications for gene: COLQ were set to
Prepair 1000+ v1.213 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Prepair 1000+ v1.213 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.213 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease, 219730 (3) to Ventriculomegaly with cystic kidney disease, MIM# 219730; MONDO:0009063; Focal segmental glomerulosclerosis 9, MIM# 616220; MONDO:0014539
Prepair 1000+ v1.212 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhoea 7 with exudative enteropathy MONDO:0014375
Prepair 1000+ v1.210 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3) to 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
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome, 261540 (3) to Peters-plus syndrome, MIM# 261540
Prepair 1000+ v1.207 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, MIM#220110
Prepair 1000+ v1.205 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Prepair 1000+ v1.204 APOPT1 Zornitza Stark Tag new gene name tag was added to gene: APOPT1.
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly, 608097 (3) to Periventricular heterotopia with microcephaly, MIM#608097
Prepair 1000+ v1.203 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Prepair 1000+ v1.202 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Prepair 1000+ v1.202 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Prepair 1000+ v1.202 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
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+ v1.201 ASNS Zornitza Stark Marked gene: ASNS as ready
Prepair 1000+ v1.201 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Prepair 1000+ v1.201 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574
Prepair 1000+ v1.200 ASNS Zornitza Stark Publications for gene: ASNS were set to
Prepair 1000+ v1.199 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Prepair 1000+ v1.199 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.199 CSMD1 Zornitza Stark Tag for review tag was added to gene: CSMD1.
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867; spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807
Prepair 1000+ v1.198 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Prepair 1000+ v1.197 AUH Zornitza Stark Marked gene: AUH as ready
Prepair 1000+ v1.197 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Prepair 1000+ v1.197 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950 (3) to 3-methylglutaconic aciduria, type I, MIM# 250950; MONDO:0009610
Prepair 1000+ v1.196 AUH Zornitza Stark Publications for gene: AUH were set to
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3) to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; MONDO:0020682
Prepair 1000+ v1.194 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Prepair 1000+ v1.193 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Prepair 1000+ v1.193 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.193 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome, 616202 (3) to Cerebellofaciodental syndrome, MIM# 616202; Cerebellar-facial-dental syndrome MONDO:0014529
Prepair 1000+ v1.192 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
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+ v1.191 HBA1 Zornitza Stark Publications for gene: HBA1 were set to
Prepair 1000+ v1.190 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Prepair 1000+ v1.190 HBA2 Zornitza Stark Publications for gene: HBA2 were set to
Prepair 1000+ v1.189 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Prepair 1000+ v1.189 BTK Zornitza Stark Marked gene: BTK as ready
Prepair 1000+ v1.189 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Prepair 1000+ v1.189 BTK Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Prepair 1000+ v1.188 BTK Zornitza Stark Publications for gene: BTK were set to
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 CEP152 Marta Cifuentes Ochoa changed review comment from: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.

Seckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance.

Established gene-disease association.

Congenital onset, severe disorder

HGNC approved symbol/name: CEP152

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families; to: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.

Seckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, facial dysmorphic features.

Established gene-disease association.

Congenital onset, severe disorder

HGNC approved symbol/name: CEP152

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families
Prepair 1000+ v1.187 COLQ Marta Cifuentes Ochoa changed review comment from: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood.

Well established gene-disease association, more than 10 families reported.
HGNC approved symbol/name: COLQ
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges?N; to: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood.
Presentations:
-neonatal: respiratory insufficiency, multiple joint contractures (often described as arthrogryposis multiplex congenita) resulting from a lack of fetal movement in utero. Feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, and facial, bulbar, and generalized weakness.In some individuals, long face, narrow jaw, and a high-arched palate have been reported
-childhood: delayed motr milestones, fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness. Ptosis may involve one or both eyelids. Facial and bulbar weakness with nasal speech and difficulties in coughing and swallowing may be present.Spinal deformity or muscle atrophy may occur
-limb-girdle

Well established gene-disease association, more than 10 families reported.
HGNC approved symbol/name: COLQ
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges?N
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 Deleted their comment
Prepair 1000+ v1.187 CLN3 Marta Cifuentes Ochoa commented on gene: CLN3: Well established gene disease association.

Severe neurodegenerative disorder.

HGNC approved symbol/name: CLN3
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families
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+ v1.187 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Prepair 1000+ v1.187 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Prepair 1000+ v1.187 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome 5, 613823 (3) to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Prepair 1000+ v1.186 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Prepair 1000+ v1.185 C1QC Zornitza Stark Marked gene: C1QC as ready
Prepair 1000+ v1.185 C1QC Zornitza Stark Gene: c1qc has been classified as Green List (High Evidence).
Prepair 1000+ v1.185 C1QC Zornitza Stark Phenotypes for gene: C1QC were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652
Prepair 1000+ v1.184 C1QC Zornitza Stark Publications for gene: C1QC were set to
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+ v1.183 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Prepair 1000+ v1.183 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Prepair 1000+ v1.183 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from Joubert syndrome 15, 614464 (3) to Joubert syndrome 15, MIM# 614464
Prepair 1000+ v1.182 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
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+ v1.181 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Prepair 1000+ v1.181 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.181 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290 (3) to Multiple pterygium syndrome, lethal type, MIM#253290; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Prepair 1000+ v1.180 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Prepair 1000+ v1.179 ETFA Zornitza Stark Marked gene: ETFA as ready
Prepair 1000+ v1.179 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Prepair 1000+ v1.179 ETFA Zornitza Stark Publications for gene: ETFA were set to
Prepair 1000+ v1.178 FANCB Zornitza Stark Marked gene: FANCB as ready
Prepair 1000+ v1.178 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Prepair 1000+ v1.178 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Prepair 1000+ v1.178 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.178 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 (3) to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; MONDO:0014010
Prepair 1000+ v1.177 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000 (3) to Fucosidosis, MIM# 230000
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
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+ v1.174 GALT Zornitza Stark Marked gene: GALT as ready
Prepair 1000+ v1.174 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Prepair 1000+ v1.174 GALT Zornitza Stark Phenotypes for gene: GALT were changed from Galactosemia, 230400 (3) to Galactosemia MIM# 230400
Prepair 1000+ v1.173 CFTR Zornitza Stark Marked gene: CFTR as ready
Prepair 1000+ v1.173 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Prepair 1000+ v1.173 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Cystic fibrosis, 219700 (3) to Cystic fibrosis, MIM#219700; MONDO:0009061
Prepair 1000+ v1.172 CFTR Zornitza Stark Publications for gene: CFTR were set to
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) to Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
Prepair 1000+ v1.170 ABCC8 Zornitza Stark Publications for gene: ABCC8 were set to
Prepair 1000+ v1.169 ISPD Zornitza Stark Marked gene: ISPD as ready
Prepair 1000+ v1.169 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Prepair 1000+ v1.169 ISPD Zornitza Stark Publications for gene: ISPD were set to
Prepair 1000+ v1.168 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Added comment: Comment when marking as ready: Promote to Green at V2.
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Tag for review tag was added to gene: BCAP31.
Prepair 1000+ v1.168 GTPBP2 Zornitza Stark Tag for review tag was added to gene: GTPBP2.
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 Tag for review tag was added to gene: YIF1B.
Prepair 1000+ v1.168 YIF1B Zornitza Stark edited their review of gene: YIF1B: Added comment: DEFINITIVE gene-disease association by ClinGen. Over 20 individuals now reported in the literature.; Changed publications: 33103737, 32006098, 36948290, 34373908
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+ v1.168 MAN2B1 Lilian Downie Marked gene: MAN2B1 as ready
Prepair 1000+ v1.168 MAN2B1 Lilian Downie Gene: man2b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.168 MAN2B1 Lilian Downie Publications for gene: MAN2B1 were set to
Prepair 1000+ v1.167 MEGF8 Lilian Downie Marked gene: MEGF8 as ready
Prepair 1000+ v1.167 MEGF8 Lilian Downie Gene: megf8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.167 MEGF8 Lilian Downie Publications for gene: MEGF8 were set to 23063620
Prepair 1000+ v1.166 MEGF8 Lilian Downie Publications for gene: MEGF8 were set to
Prepair 1000+ v1.165 MMADHC Lilian Downie Marked gene: MMADHC as ready
Prepair 1000+ v1.165 MMADHC Lilian Downie Gene: mmadhc has been classified as Green List (High Evidence).
Prepair 1000+ v1.165 MMADHC Lilian Downie Publications for gene: MMADHC were set to
Prepair 1000+ v1.164 MOCS2 Lilian Downie Marked gene: MOCS2 as ready
Prepair 1000+ v1.164 MOCS2 Lilian Downie Gene: mocs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.164 MOCS2 Lilian Downie Publications for gene: MOCS2 were set to
Prepair 1000+ v1.163 MOGS Lilian Downie Marked gene: MOGS as ready
Prepair 1000+ v1.163 MOGS Lilian Downie Added comment: Comment when marking as ready: To upgrade to green