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DDG2P v3.11 INPP5E Achchuthan Shanmugasundram Publications for gene: INPP5E were updated from 19668216 to 19668215; 19668216
DDG2P v3.11 IL1RAPL1 Achchuthan Shanmugasundram Publications for gene: IL1RAPL1 were updated from 16470793; 18801879; 10471494; 19012350 to 10471494; 18801879; 16470793; 19012350
DDG2P v3.11 IL11 Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IKBKG Achchuthan Shanmugasundram Publications for gene: IKBKG were updated from 16818673 to 10839543; 11242109; 16228229; 9450877; 11224521; 15356572; 12045264; 14726382; 15577852; 117248; 16818673; 11047757
DDG2P v3.11 IHH Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other
Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389
DDG2P v3.11 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were updated from 11528396; 15290238 to 15290238; 11528396
DDG2P v3.11 IGFBP7 Achchuthan Shanmugasundram Source Expert Review Green was added to IGFBP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IGF1R Achchuthan Shanmugasundram Publications for gene: IGF1R were updated from 14657428 to 15928254; 14657428; 22130793; 17264177
DDG2P v3.11 IGF1 Achchuthan Shanmugasundram Publications for gene: IGF1 were updated from 15769976; 8857020; 14684690 to 15769976; 14684690; 8857020
DDG2P v3.11 IGBP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other
Publications for gene: IGBP1 were updated from to 23871722
DDG2P v3.11 IFT80 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 33748949; 32144365; 33531668
Phenotypes for gene: IFT74 were set to IFT74-associated ciliopathy, OMIM:617119
DDG2P v3.11 IFT43 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other
Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458
DDG2P v3.11 IFITM5 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFITM5 was changed from Other - please provide details in the comments to Other
Publications for gene: IFITM5 were updated from 22863195; 22863190 to 22863190; 22863195
DDG2P v3.11 IFIH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other
Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204
DDG2P v3.11 IDUA Achchuthan Shanmugasundram Publications for gene: IDUA were updated from 8328452; 6821579; 7951228; 8664897; 10735634 to 8328452; 7951228; 10466419; 10735634; 4221470; 6821579; 7550232; 9391892; 8664897
DDG2P v3.11 IDS Achchuthan Shanmugasundram Publications for gene: IDS were updated from 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 to 1550586; 1303211; 1284597; 8364592; 7581397; 1355630; 8940265; 12794697; 1639384
DDG2P v3.11 IARS2 Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135
DDG2P v3.11 IARS Achchuthan Shanmugasundram Source Expert Review Green was added to IARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HYLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HYDIN Achchuthan Shanmugasundram Publications for gene: HYDIN were updated from 14985390; 23022101 to 23022101; 14985390
DDG2P v3.11 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 34906488
Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
DDG2P v3.11 HUWE1 Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other
Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686
DDG2P v3.11 HSPG2 Achchuthan Shanmugasundram Publications for gene: HSPG2 were updated from 11279527 to 11101850; 11941538; 11279527
DDG2P v3.11 HSF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other
Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349
DDG2P v3.11 HSD17B4 Achchuthan Shanmugasundram Publications for gene: HSD17B4 were updated from 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 to 9345094; 10400999; 11992265; 11743515; 9482850; 4061497; 2921319
DDG2P v3.11 HSD17B10 Achchuthan Shanmugasundram Publications for gene: HSD17B10 were updated from 10521307 to 10521307; 12555940; 16148061; 12696021
DDG2P v3.11 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to HS2ST1-related Developmental Disorder
DDG2P v3.11 HRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other
Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636
DDG2P v3.11 HR Achchuthan Shanmugasundram Publications for gene: HR were updated from 9856480; 10469319; 10205263; 12271294; 10051399 to 19897589; 17680008; 9856480; 9758627; 9445480; 10051399; 10777357; 10205263; 10469319; 12271294; 9463324
DDG2P v3.11 HPSE2 Achchuthan Shanmugasundram Publications for gene: HPSE2 were updated from 11446407; 19669792; 20560210; 19839856 to 19839856; 19669792; 11446407; 20560210
DDG2P v3.11 HPS1 Achchuthan Shanmugasundram Publications for gene: HPS1 were updated from 9705234; 8896559; 10971344; 8274781; 9497254 to 9705234; 9497254; 10971344; 8274781; 8896559
DDG2P v3.11 HPRT1 Achchuthan Shanmugasundram Publications for gene: HPRT1 were updated from to 23975452
DDG2P v3.11 HPDL Achchuthan Shanmugasundram gene: HPDL was added
gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease
DDG2P v3.11 HPD Achchuthan Shanmugasundram Source Expert Review Green was added to HPD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other
Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004
DDG2P v3.11 HOXB1 Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1.
Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXA1 Achchuthan Shanmugasundram Publications for gene: HOXA1 were updated from 18412118; 16155570 to 18412118; 16155570
DDG2P v3.11 HNRNPU Achchuthan Shanmugasundram Publications for gene: HNRNPU were updated from 23934111 to 23934111; 35138025
DDG2P v3.11 HNRNPK Achchuthan Shanmugasundram Publications for gene: HNRNPK were updated from 29904177; 30998304 to 30998304; 29904177
DDG2P v3.11 HNRNPH2 Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2.
Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HNRNPH1 Achchuthan Shanmugasundram gene: HNRNPH1 was added
gene: HNRNPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPH1 were set to 29938792; 32335897
Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder
DDG2P v3.11 HNRNPD Achchuthan Shanmugasundram gene: HNRNPD was added
gene: HNRNPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPD were set to 33057194
Phenotypes for gene: HNRNPD were set to HNRNPD-related developmental disorder (monoallelic)
DDG2P v3.11 HNRNPA2B1 Achchuthan Shanmugasundram gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA2B1 were set to 35484142
Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy
DDG2P v3.11 HNF4A Achchuthan Shanmugasundram Publications for gene: HNF4A were updated from 24285859 to 8945471; 24285859
DDG2P v3.11 HNF1B Achchuthan Shanmugasundram Publications for gene: HNF1B were updated from 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 to 11085914; 9398836; 12675839; 17440011; 15181075; 10484768; 10720943; 15068978; 11562418; 11317673
DDG2P v3.11 HMX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HMX1.
Publications for gene: HMX1 were updated from 18423520 to 18423520; 25574057; 29140751
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HMGCS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other
Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731
DDG2P v3.11 HMGCL Achchuthan Shanmugasundram Publications for gene: HMGCL were updated from 9463337; 8617516; 11129331 to 11129331; 9463337; 8617516
DDG2P v3.11 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HMGB1 were set to 36755093; 34164801
Phenotypes for gene: HMGB1 were set to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome; HMGB1-related intellectual disability
DDG2P v3.11 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HK1 were set to HK1-related developmental disorder (monoallelic)
DDG2P v3.11 HIVEP2 Achchuthan Shanmugasundram Publications for gene: HIVEP2 were updated from 26153216; 27003583 to 27003583; 26153216
DDG2P v3.11 HIST3H3 Achchuthan Shanmugasundram Mode of pathogenicity for gene HIST3H3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HIST1H4J Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J.
Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H4C Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C.
Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other
Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H2AC Achchuthan Shanmugasundram gene: HIST1H2AC was added
gene: HIST1H2AC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIST1H2AC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H2AC were set to HIST1H2AC-related developmental disorder (monoallelic)
DDG2P v3.11 HIST1H1E Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H1E.
Publications for gene: HIST1H1E were updated from 28475857 to 28475857; 31400068
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIRA Achchuthan Shanmugasundram gene: HIRA was added
gene: HIRA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013
Phenotypes for gene: HIRA were set to HIRA-related neurodevelopmental disorder
DDG2P v3.11 HGSNAT Achchuthan Shanmugasundram Publications for gene: HGSNAT were updated from 18024218; 18518886; 16960811; 20825431; 17033958 to 18518886; 16960811; 20825431; 17033958; 18024218
DDG2P v3.11 HEXB Achchuthan Shanmugasundram Publications for gene: HEXB were updated from 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 to 9888387; 8045559; 3014997; 571983; 2973515; 18758829; 1531140; 2921040; 7633435; 10724
DDG2P v3.11 HEXA Achchuthan Shanmugasundram Publications for gene: HEXA were updated from 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 to 2140574; 14648242; 9401004; 2848800; 6959123; 1483696; 21937992; 2934978; 1532289; 9272736; 1301190; 8757036; 2522679; 1322637; 2976595; 1384323; 15108204; 1301958; 1827945; 2961848; 1833974; 1837283; 3362213; 9603435; 8490625; 2954459; 1825014; 1302612; 3754980
DDG2P v3.11 HESX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HERC2 Achchuthan Shanmugasundram gene: HERC2 was added
gene: HERC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC2 were set to 32571899; 23243086; 30902390; 23065719
Phenotypes for gene: HERC2 were set to HERC2-related neurodevelopmental disorder, OMIM:615516
DDG2P v3.11 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011
DDG2P v3.11 HECW2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other
Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779
DDG2P v3.11 HDAC8 Achchuthan Shanmugasundram Publications for gene: HDAC8 were updated from 22885700 to 29279609; 25102094; 29991052; 22885700; 29519750; 26671848; 24403048
DDG2P v3.11 HDAC4 Achchuthan Shanmugasundram Publications for gene: HDAC4 were updated from 20691407 to 33537682; 20691407; 30848064
DDG2P v3.11 HCN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HCFC1 Achchuthan Shanmugasundram Publications for gene: HCFC1 were updated from 24011988 to 1870093; 23000143; 24011988
DDG2P v3.11 HAX1 Achchuthan Shanmugasundram Publications for gene: HAX1 were updated from 18337561; 19036076; 18611981; 17187068 to 18611981; 18337561; 19036076; 17187068
DDG2P v3.11 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HACE1 Achchuthan Shanmugasundram Publications for gene: HACE1 were updated from 26424145; 26437029 to 26437029; 26424145
DDG2P v3.11 HACD1 Achchuthan Shanmugasundram gene: HACD1 was added
gene: HACD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 32426512; 33354762; 23933735
Phenotypes for gene: HACD1 were set to HACD1-related congenital myopathy
DDG2P v3.11 HAAO Achchuthan Shanmugasundram gene: HAAO was added
gene: HAAO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 33942433; 28792876
Phenotypes for gene: HAAO were set to NAD deficiency disorder
DDG2P v3.11 H3F3B Achchuthan Shanmugasundram gene: H3F3B was added
gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: H3F3B were set to 33268356
Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder
Mode of pathogenicity for gene: H3F3B was set to Other
DDG2P v3.11 H3F3A Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other
Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356
DDG2P v3.11 GZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GUSB Achchuthan Shanmugasundram Publications for gene: GUSB were updated from 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 to 7633414; 6811712; 12522561; 9490302; 1702266; 7573038; 1833732; 4265197
DDG2P v3.11 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 30790272; 29449720
Phenotypes for gene: GTPBP2 were set to JABERI-ELAHI SYNDROME, OMIM:617988
DDG2P v3.11 GTF2IRD1 Achchuthan Shanmugasundram gene: GTF2IRD1 was added
gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2IRD1 were set to 36308390
Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder
Mode of pathogenicity for gene: GTF2IRD1 was set to Other
DDG2P v3.11 GTF2E2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2.
Mode of pathogenicity for gene GTF2E2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GSPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GSPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 28097321; 27435318
Phenotypes for gene: GRM7 were set to GRM7-related neurodevelopmental disorder
DDG2P v3.11 GRM6 Achchuthan Shanmugasundram Publications for gene: GRM6 were updated from 15781871; 16249515; 17405131 to 16249515; 15781871; 17405131
DDG2P v3.11 GRM1 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2D Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D.
Mode of pathogenicity for gene GRIN2D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2B Achchuthan Shanmugasundram Publications for gene: GRIN2B were updated from 23934111 to 24272827; 31085877; 23934111; 28377535; 23033978; 20890276; 23160955; 27605359; 23718928; 35393335; 30151416
DDG2P v3.11 GRIN2A Achchuthan Shanmugasundram Publications for gene: GRIN2A were updated from 23933818 to 23033978; 35983985; 20890276; 23933818
DDG2P v3.11 GRIN1 Achchuthan Shanmugasundram Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were updated from 23934111; 27164704 to 27164704; 35393335; 34611970; 23934111; 26350515; 28051072
DDG2P v3.11 GRIK2 Achchuthan Shanmugasundram Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIK2 were updated from 17847003 to 17847003; 34375587
DDG2P v3.11 GRID2 Achchuthan Shanmugasundram gene: GRID2 was added
gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174
Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic
DDG2P v3.11 GRIA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GRIA2 Achchuthan Shanmugasundram gene: GRIA2 was added
gene: GRIA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIA2 were set to GRIA2-related developmental disorder (monoallelic)
DDG2P v3.11 GRIA1 Achchuthan Shanmugasundram gene: GRIA1 was added
gene: GRIA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIA1 were set to 23033978; 35675825
Phenotypes for gene: GRIA1 were set to GRIA1-related neurodevelopmental disorder
DDG2P v3.11 GRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2.
Mode of pathogenicity for gene GRHL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GREB1L Achchuthan Shanmugasundram gene: GREB1L was added
gene: GREB1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186; 32378186; 32598191; 29220675; 29100090; 31424080; 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM:617805
DDG2P v3.11 GPX4 Achchuthan Shanmugasundram Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPHN Achchuthan Shanmugasundram gene: GPHN was added
gene: GPHN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 11095995; 22040219
Phenotypes for gene: GPHN were set to GPHN-related molybdenum cofactor deficiency, OMIM:615501
DDG2P v3.11 GPC6 Achchuthan Shanmugasundram Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPC3 Achchuthan Shanmugasundram Publications for gene: GPC3 were updated from 16158429; 10814714; 18203194; 8589713; 9950367; 17850639 to 8589713; 18203194; 9950367; 17850639; 16158429; 10814714
DDG2P v3.11 GPAA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GPAA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GOT2.
Mode of pathogenicity for gene GOT2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOLGA2 Achchuthan Shanmugasundram gene: GOLGA2 was added
gene: GOLGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to 26742501; 34424553
Phenotypes for gene: GOLGA2 were set to GOLGA2-related myopathy, seizures and microcephaly
DDG2P v3.11 GNS Achchuthan Shanmugasundram Publications for gene: GNS were updated from 6450420; 17998446; 19650410; 3100754; 12624138 to 19650410; 12624138; 17998446; 6450420; 3100754
DDG2P v3.11 GNPTG Achchuthan Shanmugasundram Publications for gene: GNPTG were updated from 20034096; 19659762; 10712439; 19370764 to 10712439; 20034096; 19659762; 19370764; 34341521
DDG2P v3.11 GNPTAB Achchuthan Shanmugasundram Publications for gene: GNPTAB were updated from 16094673; 15633164; 16116615; 19197337 to 19197337; 16116615; 16465621; 16200072; 16094673; 15633164; 34341521
DDG2P v3.11 GNPAT Achchuthan Shanmugasundram Publications for gene: GNPAT were updated from 21990100; 9843043; 9536089; 1405476 to 9536089; 9843043; 1405476; 21990100
DDG2P v3.11 GNE Achchuthan Shanmugasundram gene: GNE was added
gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088
Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921
Mode of pathogenicity for gene: GNE was set to Other
DDG2P v3.11 GNB5 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNB2 Achchuthan Shanmugasundram gene: GNB2 was added
gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099
Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: GNB2 was set to Other
DDG2P v3.11 GNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other
Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799
DDG2P v3.11 GNAS Achchuthan Shanmugasundram Publications for gene: GNAS were updated from 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 to 1944469; 10487696; 1505964; 11095461; 17299070; 2122458; 15592469; 9328353; 8702665; 11029463; 11073544; 15126527; 8072545; 18182455; 1594625
DDG2P v3.11 GNAQ Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ.
Mode of pathogenicity for gene GNAQ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNAI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GNAI1 Achchuthan Shanmugasundram Publications for gene: GNAI1 were updated from 28135719 to 33473207; 28135719
DDG2P v3.11 GNA14 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA14.
Mode of pathogenicity for gene GNA14 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNA11 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA11.
Mode of pathogenicity for gene GNA11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GMPPA Achchuthan Shanmugasundram Publications for gene: GMPPA were updated from 24035193 to 24035193; 35665995
DDG2P v3.11 GMNN Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN.
Mode of pathogenicity for gene GMNN was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GM2A Achchuthan Shanmugasundram Publications for gene: GM2A were updated from 8900233; 8244332; 10364519; 1915858 to 10364519; 8900233; 1915858; 8244332
DDG2P v3.11 GLUL Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other
Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323
DDG2P v3.11 GLUD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other
Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977
DDG2P v3.11 GLRB Achchuthan Shanmugasundram gene: GLRB was added
gene: GLRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 24030948; 32911248; 23182654; 23184146; 21391991; 23238346; 11929858; 33323420
Phenotypes for gene: GLRB were set to GLRB-related hyperexplexia, biallelic, OMIM:614619; GLRB-related hyperexplexia, monoallelic
DDG2P v3.11 GLRA1 Achchuthan Shanmugasundram gene: GLRA1 was added
gene: GLRA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 24030948; 20631190; 9920650; 32319239; 30109271; 24970905; 28985719; 25036534; 32332682
Phenotypes for gene: GLRA1 were set to GLRA1-related hyperexplexia, biallelic, OMIM:149400; GLRA1-related hyperexplexia, monoallelic, OMIM:149400
DDG2P v3.11 GLMN Achchuthan Shanmugasundram Publications for gene: GLMN were updated from 11175297; 11845407 to 11845407; 11175297
DDG2P v3.11 GLIS2 Achchuthan Shanmugasundram Source Expert Review Green was added to GLIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLI3 Achchuthan Shanmugasundram Publications for gene: GLI3 were updated from 10945658; 9054938; 10441570 to 10945658; 9054938; 10441570
DDG2P v3.11 GLE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GLDN Achchuthan Shanmugasundram Source Expert Review Green was added to GLDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLDC Achchuthan Shanmugasundram Publications for gene: GLDC were updated from 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735 to 10873393; 15864413; 15851735; 15824356; 1634607; 9621520; 10798358; 11592811; 15236413; 9600239; 445864; 8005589
DDG2P v3.11 GLB1 Achchuthan Shanmugasundram Publications for gene: GLB1 were updated from 1907800; 1909089; 8198123 to 1907800; 12644936; 1606711; 10841810; 1928092; 7586649; 1909089; 8199591; 8213816; 10737981; 8198123; 11511921
DDG2P v3.11 GJC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other
Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806
DDG2P v3.11 GJA8 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744
DDG2P v3.11 GJA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266
DDG2P v3.11 GJA1 Achchuthan Shanmugasundram Publications for gene: GJA1 were updated from 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 to 15108203; 2157843; 16816024; 14974090; 4209752; 2309863; 12457340; 15551259; 7815444; 21670345; 16709485; 17256797; 14981729; 11470490
DDG2P v3.11 GIGYF1 Achchuthan Shanmugasundram gene: GIGYF1 was added
gene: GIGYF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GIGYF1 were set to 33057194
Phenotypes for gene: GIGYF1 were set to GIGYF1-related developmental disorder (monoallelic)
DDG2P v3.11 GHR Achchuthan Shanmugasundram Publications for gene: GHR were updated from 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 to 9851797; 11468686; 9467570; 12679461; 15536163; 2779634; 9661642; 8488849; 2813379; 8626815; 15001620; 9360529; 17405847; 2233903
DDG2P v3.11 GFAP Achchuthan Shanmugasundram Mode of pathogenicity for gene GFAP was changed from Other - please provide details in the comments to Other
Publications for gene: GFAP were updated from 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 to 11138011; 11567214; 12447932; 12975300; 14557587; 12034796
DDG2P v3.11 GEMIN5 Achchuthan Shanmugasundram gene: GEMIN5 was added
gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
DDG2P v3.11 GEMIN4 Achchuthan Shanmugasundram gene: GEMIN4 was added
gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Mode of pathogenicity for gene: GEMIN4 was set to Other
DDG2P v3.11 GDI1 Achchuthan Shanmugasundram Source Expert Review Red was added to GDI1.
Publications for gene: GDI1 were updated from to 22002931; 21736009; 9620768; 28863211
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 GDF6 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173
DDG2P v3.11 GDF5 Achchuthan Shanmugasundram Publications for gene: GDF5 were updated from 2703235 to 16222676; 11857750; 12124730; 16532400; 11846737; 16127465; 2703235; 12121354; 16892395; 12900894; 18283415; 9288098; 10080184; 18629880
DDG2P v3.11 GDF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF3 were updated from to 19864492; 29260090
DDG2P v3.11 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122
DDG2P v3.11 GDF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF1.
Mode of inheritance for gene GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF1 were updated from to 32144877; 17924340; 20413652; 28991257; 33131162
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCSH Achchuthan Shanmugasundram Source Expert Review Green was added to GCSH.
Publications for gene: GCSH were updated from to 36190515
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other
Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649
DDG2P v3.11 GCDH Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other
Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227
DDG2P v3.11 GBE1 Achchuthan Shanmugasundram gene: GBE1 was added
gene: GBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 33897756; 32455116; 27546458; 30345254; 31747834; 32374048; 33782433; 30228975; 30311141; 30303820
Phenotypes for gene: GBE1 were set to GBE1-associated Glycogen storage disease IV, OMIM:232500
DDG2P v3.11 GATAD2B Achchuthan Shanmugasundram Publications for gene: GATAD2B were updated from 23644463 to 23644463; 31949314
DDG2P v3.11 GATA6 Achchuthan Shanmugasundram Publications for gene: GATA6 were updated from 20631719 to 20631719; 20581743; 8071961; 22158542
DDG2P v3.11 GATA4 Achchuthan Shanmugasundram Publications for gene: GATA4 were updated from 17643447; 20659440; 12845333; 15810002; 20347099; 18055909 to 17643447; 18055909; 20659440; 12845333; 15810002; 20347099
DDG2P v3.11 GATA3 Achchuthan Shanmugasundram gene: GATA3 was added
gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062
Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
DDG2P v3.11 GATA2 Achchuthan Shanmugasundram Publications for gene: GATA2 were updated from 21892158; 20803646 to 21670465; 2543925; 21892158; 24227816; 22996659; 20803646; 21242295
DDG2P v3.11 GAS2L2 Achchuthan Shanmugasundram Source Expert Review Green was added to GAS2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GAN Achchuthan Shanmugasundram gene: GAN was added
gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362
Phenotypes for gene: GAN were set to Giant axonal neuropathy 1
DDG2P v3.11 GAMT Achchuthan Shanmugasundram Publications for gene: GAMT were updated from 17101918; 15651030; 8651275 to 8651275; 15651030; 17101918
DDG2P v3.11 GALT Achchuthan Shanmugasundram Publications for gene: GALT were updated from 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 to 9012409; 1610789; 2233247; 1897530; 10439960; 2011574; 8869397; 9222760
DDG2P v3.11 GALK1 Achchuthan Shanmugasundram Publications for gene: GALK1 were updated from 10790206; 7670469; 11231902; 10521295 to 10521295; 11231902; 10790206; 7670469
DDG2P v3.11 GALE Achchuthan Shanmugasundram Publications for gene: GALE were updated from 9538513; 9326324; 9973283 to 9326324; 9538513; 9973283
DDG2P v3.11 GALC Achchuthan Shanmugasundram Publications for gene: GALC were updated from 21070211; 8786069; 20886637; 8297359 to 8297359; 20886637; 8786069; 21070211
DDG2P v3.11 GAD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GABRG2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRG1 Achchuthan Shanmugasundram gene: GABRG1 was added
gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRG1 were set to 36121006
Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy
Mode of pathogenicity for gene: GABRG1 was set to Other
DDG2P v3.11 GABRB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other
Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111
DDG2P v3.11 GABRB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2.
Mode of pathogenicity for gene GABRB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRA1.
Publications for gene: GABRA1 were updated from 23934111 to 11992121; 23934111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABBR2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2.
Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other
Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GABBR1 Achchuthan Shanmugasundram gene: GABBR1 was added
gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder
Mode of pathogenicity for gene: GABBR1 was set to Other
DDG2P v3.11 GAA Achchuthan Shanmugasundram Publications for gene: GAA were updated from 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697 to 9529346; 7881425; 15668445; 7945303; 7881422; 3865697; 1652892; 17616415; 1898413; 8834250
DDG2P v3.11 FZR1 Achchuthan Shanmugasundram gene: FZR1 was added
gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FZR1 were set to 31318984; 34788397
Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy
Mode of pathogenicity for gene: FZR1 was set to Other
DDG2P v3.11 FZD5 Achchuthan Shanmugasundram Source Expert Review Green was added to FZD5.
Mode of pathogenicity for gene FZD5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FXR1 Achchuthan Shanmugasundram gene: FXR1 was added
gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 35393337; 30770808
Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy
DDG2P v3.11 FUT8 Achchuthan Shanmugasundram Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUK Achchuthan Shanmugasundram Source Expert Review Green was added to FUK.
Mode of pathogenicity for gene FUK was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUCA1 Achchuthan Shanmugasundram Publications for gene: FUCA1 were updated from 1281988; 8401503; 2012122; 9762612; 2642067; 8097260 to 9762612; 2642067; 8401503; 2012122; 8097260; 1281988
DDG2P v3.11 FTSJ1 Achchuthan Shanmugasundram Publications for gene: FTSJ1 were updated from 10398246; 8288232; 15162322 to 10398246; 15162322; 8288232
DDG2P v3.11 FTO Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FTL Achchuthan Shanmugasundram Publications for gene: FTL were updated from 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 to 11849230; 9414313; 9414300; 19176363; 7493028; 9226182; 7669675; 12200611; 9292547; 10759702
DDG2P v3.11 FRRS1L Achchuthan Shanmugasundram Source Expert Review Green was added to FRRS1L.
Publications for gene: FRRS1L were updated from 27239025; 27236917 to 27236917; 27239025
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to FRMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMD7 Achchuthan Shanmugasundram Source Expert Review Red was added to FRMD7.
Publications for gene: FRMD7 were updated from 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 to 16240070; 17962394; 18087240; 17013395; 19072571; 21746984; 17397053; 25678693
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 FRMD5 Achchuthan Shanmugasundram gene: FRMD5 was added
gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder
Mode of pathogenicity for gene: FRMD5 was set to Other
DDG2P v3.11 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were updated from 17352387; 11332973 to 11332973; 17352387
DDG2P v3.11 FRAS1 Achchuthan Shanmugasundram Publications for gene: FRAS1 were updated from 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 to 15838507; 12766769; 18671281; 17163535; 18203166; 16894541
DDG2P v3.11 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 35871492; 35821753; 34694367
Phenotypes for gene: FRA10AC1 were set to FRA10AC1-related neurodevelopmental disorder
DDG2P v3.11 FOXRED1 Achchuthan Shanmugasundram Publications for gene: FOXRED1 were updated from 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 to 20818383; 11181577; 17262856; 15824269; 9463323; 19185523; 11349233; 10944442; 12616398; 20858599; 20382551; 15159508; 21203893; 10080174; 16200211; 22499348; 10330338; 9837812; 23553477
DDG2P v3.11 FOXP4 Achchuthan Shanmugasundram gene: FOXP4 was added
gene: FOXP4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to FOXP4-related Developmental Disorder
DDG2P v3.11 FOXP3 Achchuthan Shanmugasundram Publications for gene: FOXP3 were updated from 11137993; 17635943; 11120765; 11137992; 14671208 to 14671208; 17635943; 11137993; 11120765; 11137992
DDG2P v3.11 FOXP2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXP1 Achchuthan Shanmugasundram Publications for gene: FOXP1 were updated from 20950788 to 24214399; 30092897; 20950788; 28735298; 25853299; 29090079; 29330474; 28884888
DDG2P v3.11 FOXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXL2.
Publications for gene: FOXL2 were updated from 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 to 12400065; 12938087; 11175783; 17089161; 12630957; 11468277; 11776388; 12567411; 12529855; 21325395
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
DDG2P v3.11 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia
Mode of pathogenicity for gene: FOXI3 was set to Other
DDG2P v3.11 FOXG1 Achchuthan Shanmugasundram Publications for gene: FOXG1 were updated from 19578037; 21441262; 19564653; 18571142 to 18571142; 21441262; 19564653; 19578037
DDG2P v3.11 FOXE3 Achchuthan Shanmugasundram Publications for gene: FOXE3 were updated from 6801987; 11159941; 3550563 to 29136273; 20361012; 20140963; 6801987; 22204637; 3550563; 11159941; 16826526
DDG2P v3.11 FOXE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FOXC2 Achchuthan Shanmugasundram Publications for gene: FOXC2 were updated from 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474 to 11078474; 18197197; 15523639; 14269895; 11499682; 12114478; 12485195; 10417285; 11371511
DDG2P v3.11 FOXC1 Achchuthan Shanmugasundram Publications for gene: FOXC1 were updated from 11007653; 19793056 to 9792859; 18498376; 9326342; 11170889; 9620769; 17210863; 10713890; 19793056; 11007653
DDG2P v3.11 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Mode of pathogenicity for gene FN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FMN2 Achchuthan Shanmugasundram Source Expert Review Green was added to FMN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FLVCR2 Achchuthan Shanmugasundram Publications for gene: FLVCR2 were updated from 25677735; 20518025; 19635601; 20206334 to 19635601; 20518025; 25677735; 20206334
DDG2P v3.11 FLVCR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FLVCR1 was changed from Other - please provide details in the comments to Other
Publications for gene: FLVCR1 were updated from 21070897; 9409377; 21267618 to 21267618; 21070897; 9409377; 30656474
DDG2P v3.11 FLT4 Achchuthan Shanmugasundram Publications for gene: FLT4 were updated from 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 to 33067626; 10835628; 12960217; 16924388; 19289394; 16965327; 10856194
DDG2P v3.11 FLNB Achchuthan Shanmugasundram Publications for gene: FLNB were updated from 14991055 to 18386804; 18257094; 14991055; 16801345
DDG2P v3.11 FLNA Achchuthan Shanmugasundram Publications for gene: FLNA were updated from 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 to 23934111; 16596676; 8644737; 20301567; 11914408; 16299064; 11532987; 9883725; 28498505; 10982965; 20014127; 23032111; 17632775; 17431908; 23037936; 18854860; 15654694; 14988809; 15940695; 12612583; 8290091
DDG2P v3.11 FLG Achchuthan Shanmugasundram Publications for gene: FLG were updated from 16444271; 17291859 to 17291859; 16444271
DDG2P v3.11 FKTN Achchuthan Shanmugasundram Publications for gene: FKTN were updated from 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207 to 21228398; 17044012; 17878207; 19179078; 17036286; 12601708; 9690476; 10545611; 19342235; 14627679
DDG2P v3.11 FKRP Achchuthan Shanmugasundram Publications for gene: FKRP were updated from 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 to 11053680; 12654965; 15121789; 11592034; 14523375; 17336067; 11741828; 14647208; 14652796; 11071142; 12707439
DDG2P v3.11 FKBP10 Achchuthan Shanmugasundram gene: FKBP10 was added
gene: FKBP10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP10 were set to 20362275; 21567934; 35278031; 20839288
Phenotypes for gene: FKBP10 were set to BRUCK SYNDROME TYPE 1
DDG2P v3.11 FIG4 Achchuthan Shanmugasundram Source Expert Review Green was added to FIG4.
Publications for gene: FIG4 were updated from 2319578; 7496176; 23623387 to 17572665; 23623387; 7496176; 34899148; 30740813; 2319578
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FHL1 Achchuthan Shanmugasundram Publications for gene: FHL1 were updated from 19716112; 18179888; 19687455 to 35607917; 19716112; 19687455; 18179888
DDG2P v3.11 FH Achchuthan Shanmugasundram Publications for gene: FH were updated from to 8200987; 22069215
DDG2P v3.11 FGFR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183
DDG2P v3.11 FGFR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757
DDG2P v3.11 FGFR1 Achchuthan Shanmugasundram Publications for gene: FGFR1 were updated from 23812909 to 11807866; 15523615; 10394936; 7874169; 15625620; 26942290; 10690855; 7719345; 17235395; 8434615; 7422392; 16606836; 8841188; 23643382; 16882753; 17360555; 18596921; 23812909; 9150725; 16418210; 9002682; 12627230; 10945669; 9586546
DDG2P v3.11 FGF9 Achchuthan Shanmugasundram Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FGF3 Achchuthan Shanmugasundram Publications for gene: FGF3 were updated from 18701883; 18435799; 17236138; 21480479 to 18435799; 21480479; 17236138; 18701883
DDG2P v3.11 FGF14 Achchuthan Shanmugasundram gene: FGF14 was added
gene: FGF14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF14 were set to 30607796; 25566820; 21600715
Phenotypes for gene: FGF14 were set to FGF14-related episodic ataxia
DDG2P v3.11 FGF13 Achchuthan Shanmugasundram gene: FGF13 was added
gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous)
Mode of pathogenicity for gene: FGF13 was set to Other
DDG2P v3.11 FGF12 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGF12 was changed from Other - please provide details in the comments to Other
Publications for gene: FGF12 were updated from 27830185; 27164707; 27872899 to 27164707; 27872899; 27830185
DDG2P v3.11 FGD1 Achchuthan Shanmugasundram Publications for gene: FGD1 were updated from 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 to 11093277; 14560308; 16688726; 20082460; 16353258; 7954831; 17152066; 10930571; 11940089; 15809997; 17847065
DDG2P v3.11 FEZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to FEZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FEM1C Achchuthan Shanmugasundram gene: FEM1C was added
gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956
Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder
Mode of pathogenicity for gene: FEM1C was set to Other
DDG2P v3.11 FBXW7 Achchuthan Shanmugasundram gene: FBXW7 was added
gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: FBXW7 was set to Other
DDG2P v3.11 FBXW11 Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11.
Mode of pathogenicity for gene FBXW11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FBXO28 Achchuthan Shanmugasundram gene: FBXO28 was added
gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO28 were set to 30160831; 33280099
Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability
Mode of pathogenicity for gene: FBXO28 was set to Other
DDG2P v3.11 FBXO11 Achchuthan Shanmugasundram Publications for gene: FBXO11 were updated from 27620904; 30057029 to 27620904; 30679813; 30057029
DDG2P v3.11 FBP1 Achchuthan Shanmugasundram Publications for gene: FBP1 were updated from 12126934; 7763253 to 7763253; 12126934
DDG2P v3.11 FBN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other
Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416
DDG2P v3.11 FBN1 Achchuthan Shanmugasundram Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN1 were updated from 8406497 to 1852208; 1631074; 31950671; 17366579; 9241263; 7611299; 1569206; 1301946; 11175294; 9101298; 9837823; 15032979; 17492313; 7762551; 23103230; 23897642; 21594992; 8136837; 7633409; 15287423; 12525539; 8504310; 20979188; 10766875; 16333834; 8281141; 23023332; 11702223; 17568394; 20082464; 27582083; 8101042; 8071963; 7911051; 8040326; 21594993; 10441597; 18412115; 8428751; 8406497; 8430317
DDG2P v3.11 FBLN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FASN Achchuthan Shanmugasundram Mode of pathogenicity for gene FASN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FARS2 Achchuthan Shanmugasundram Publications for gene: FARS2 were updated from 29326872; 28043061; 27095821; 29126765; 27549011 to 29326872; 27549011; 29126765; 28043061; 27095821
DDG2P v3.11 FAR1 Achchuthan Shanmugasundram Publications for gene: FAR1 were updated from to 25439727
DDG2P v3.11 FANCM Achchuthan Shanmugasundram Source Expert Review Green was added to FANCM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCL Achchuthan Shanmugasundram Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCG Achchuthan Shanmugasundram Publications for gene: FANCG were updated from 12552564; 10807541; 15657175; 9806548 to 15657175; 9806548; 12552564; 10807541
DDG2P v3.11 FANCF Achchuthan Shanmugasundram Publications for gene: FANCF were updated from 10615118; 9382107 to 26033879; 10615118; 9382107
DDG2P v3.11 FANCE Achchuthan Shanmugasundram Publications for gene: FANCE were updated from 10205272; 11001585; 9382107 to 10205272; 11001585; 9382107
DDG2P v3.11 FANCB Achchuthan Shanmugasundram Publications for gene: FANCB were updated from to 16679491
DDG2P v3.11 FANCA Achchuthan Shanmugasundram Publications for gene: FANCA were updated from 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 to 12447395; 11344308; 12827451; 10431244; 8896564; 15523645
DDG2P v3.11 FAM58A Achchuthan Shanmugasundram Publications for gene: FAM58A were updated from 18297069; 8818947 to 18297069; 28322501; 8818947
DDG2P v3.11 FAM20C Achchuthan Shanmugasundram Publications for gene: FAM20C were updated from 19250384; 20825432; 17924334 to 20825432; 17924334; 19250384
DDG2P v3.11 FAM161A Achchuthan Shanmugasundram Publications for gene: FAM161A were updated from to 20705278; 26574802; 20705279; 10507729
DDG2P v3.11 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FAM126A Achchuthan Shanmugasundram Publications for gene: FAM126A were updated from 16951682; 17928815 to 17928815; 16951682
DDG2P v3.11 FAM111A Achchuthan Shanmugasundram Mode of pathogenicity for gene FAM111A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FAH Achchuthan Shanmugasundram Publications for gene: FAH were updated from 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 to 7977370; 8829657; 1401056; 8318997; 8364576; 8162054; 11196105; 7757089
DDG2P v3.11 EZH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EYA1 Achchuthan Shanmugasundram Publications for gene: EYA1 were updated from 16441263 to 9361030; 5365063; 16441263; 9020840; 10655545; 19206155
DDG2P v3.11 EXTL3 Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3.
Mode of pathogenicity for gene EXTL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXT2 Achchuthan Shanmugasundram Publications for gene: EXT2 were updated from to 9326317
DDG2P v3.11 EXT1 Achchuthan Shanmugasundram Publications for gene: EXT1 were updated from 8981950; 9326317; 15253765; 7550340 to 9326317; 7550340; 8981950; 15253765
DDG2P v3.11 EXPH5 Achchuthan Shanmugasundram Source Expert Review Green was added to EXPH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC9 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOSC9.
Mode of inheritance for gene EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC3 Achchuthan Shanmugasundram Publications for gene: EXOSC3 were updated from to 34085948
DDG2P v3.11 EXOSC2 Achchuthan Shanmugasundram gene: EXOSC2 was added
gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 36069504; 26843489
Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
DDG2P v3.11 EVC Achchuthan Shanmugasundram Publications for gene: EVC were updated from 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 to 7628126; 21815252; 10700184; 14217223; 12468274; 7218275; 12571802
DDG2P v3.11 ETHE1 Achchuthan Shanmugasundram Publications for gene: ETHE1 were updated from 14732903; 20528888; 18593870 to 18593870; 14732903; 20528888
DDG2P v3.11 ETFA Achchuthan Shanmugasundram Publications for gene: ETFA were updated from 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 to 17412732; 7912128; 1882842; 12815589; 1430199; 19249206
DDG2P v3.11 ESCO2 Achchuthan Shanmugasundram Publications for gene: ESCO2 were updated from 15821733; 495649 to 3740099; 15821733; 495649
DDG2P v3.11 ERLIN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ERLIN2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ERF Achchuthan Shanmugasundram Publications for gene: ERF were updated from 27738187 to 23354439; 35852485; 27738187
DDG2P v3.11 ERCC8 Achchuthan Shanmugasundram Publications for gene: ERCC8 were updated from 7664335; 14661080; 15744458 to 14661080; 15744458; 7664335
DDG2P v3.11 ERCC6 Achchuthan Shanmugasundram Publications for gene: ERCC6 were updated from 7264357 to 20456449; 9443879; 7264357; 10739753; 18628313; 18446857; 10196384
DDG2P v3.11 ERCC5 Achchuthan Shanmugasundram Publications for gene: ERCC5 were updated from 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 to 11228268; 12060391; 7951246; 9096355; 23255472; 11841555; 11219864; 8818951
DDG2P v3.11 ERCC4 Achchuthan Shanmugasundram Publications for gene: ERCC4 were updated from 8797827; 3372781 to 3372781; 23623389; 17183314; 23623386; 8797827
DDG2P v3.11 ERCC3 Achchuthan Shanmugasundram Publications for gene: ERCC3 were updated from 4811796; 16947863; 8408834 to 16947863; 4811796; 8408834
DDG2P v3.11 ERCC2 Achchuthan Shanmugasundram Publications for gene: ERCC2 were updated from 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 to 9012405; 11709541; 15220921; 9101292; 7849702; 7920640; 9195225; 8571952; 11443545; 7585650; 9758621
DDG2P v3.11 ERCC1 Achchuthan Shanmugasundram Publications for gene: ERCC1 were updated from 17273966 to 23623389; 17273966
DDG2P v3.11 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other
Publications for gene: ERBB3 were updated from to 17701904
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPRS Achchuthan Shanmugasundram Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPCAM Achchuthan Shanmugasundram gene: EPCAM was added
gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410
Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217
DDG2P v3.11 EPB41L1 Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EP300 Achchuthan Shanmugasundram Publications for gene: EP300 were updated from 17299436; 20014264; 19353645; 15706485 to 19353645; 17299436; 20014264; 15706485
DDG2P v3.11 ENTPD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ENTPD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ENPP1 Achchuthan Shanmugasundram Publications for gene: ENPP1 were updated from 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 to 20137773; 12881724; 20137772; 15940697; 11159191; 19206175; 22209248; 15605415
DDG2P v3.11 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other
Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EMC10 Achchuthan Shanmugasundram gene: EMC10 was added
gene: EMC10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 33531666
Phenotypes for gene: EMC10 were set to EMC10-related neurodevelopmental disorder
DDG2P v3.11 EMC1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMC1.
Publications for gene: EMC1 were updated from to 29271071; 26942288
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ELP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ELN Achchuthan Shanmugasundram Publications for gene: ELN were updated from 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671 to 10190538; 8132745; 8541862; 21309044; 9215670; 11735026; 10190324; 19844261; 11175284; 23442826; 9215671
DDG2P v3.11 ELMO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ELMO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELFN1 Achchuthan Shanmugasundram gene: ELFN1 was added
gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELFN1 were set to 34509675
Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy
DDG2P v3.11 EIF5A Achchuthan Shanmugasundram gene: EIF5A was added
gene: EIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to EIF5A-related craniofacial-neurodevelopmental disorder
DDG2P v3.11 EIF4A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EIF3F Achchuthan Shanmugasundram Source Expert Review Green was added to EIF3F.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2S3 Achchuthan Shanmugasundram Source Expert Review Green was added to EIF2S3.
Publications for gene: EIF2S3 were updated from 27333055; 23063529 to 23063529; 27333055
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2B5 Achchuthan Shanmugasundram gene: EIF2B5 was added
gene: EIF2B5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 28939701; 25457085; 25230711; 25089094; 25758335; 14572143; 15776425
Phenotypes for gene: EIF2B5 were set to EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2B4 Achchuthan Shanmugasundram gene: EIF2B4 was added
gene: EIF2B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 30073106; 26043506; 25089094; 31385086; 18539998; 14572143
Phenotypes for gene: EIF2B4 were set to EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2AK3 Achchuthan Shanmugasundram Publications for gene: EIF2AK3 were updated from 16813601; 12960215; 10932183; 7551159 to 7551159; 12960215; 16813601; 10932183
DDG2P v3.11 EIF2AK2 Achchuthan Shanmugasundram gene: EIF2AK2 was added
gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mode of pathogenicity for gene: EIF2AK2 was set to Other
DDG2P v3.11 EIF2AK1 Achchuthan Shanmugasundram gene: EIF2AK1 was added
gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome
Mode of pathogenicity for gene: EIF2AK1 was set to Other
DDG2P v3.11 EHMT1 Achchuthan Shanmugasundram Publications for gene: EHMT1 were updated from 19264732; 28498556; 16826528 to 27123477; 23232695; 16826528; 28361100; 19264732; 28498556
DDG2P v3.11 EFTUD2 Achchuthan Shanmugasundram Publications for gene: EFTUD2 were updated from 22541558; 16760738; 19334086; 22305528; 23188108 to 27670155; 23879989; 22541558; 19334086; 28643921; 23188108; 25387991; 25735261; 31413053; 30343593; 16760738; 22305528; 23239648; 26507355; 24470203
DDG2P v3.11 EFNB1 Achchuthan Shanmugasundram Publications for gene: EFNB1 were updated from 16685650; 15166289; 15124102 to 15124102; 15166289; 16685650
DDG2P v3.11 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 29362193; 17937443; 30140196; 19664000; 28673110; 16685658; 22440127; 24276535; 23212998
Phenotypes for gene: EFEMP2 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437
DDG2P v3.11 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EEF2 were set to EEF2-related developmental disorder (monoallelic)
DDG2P v3.11 EEF1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2.
Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other
Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EED Achchuthan Shanmugasundram Source Expert Review Green was added to EED.
Mode of pathogenicity for gene EED was changed from Other - please provide details in the comments to Other
Publications for gene: EED were updated from 28475857; 27193220; 25787343; 27868325 to 27868325; 27193220; 25787343; 28475857
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDNRB Achchuthan Shanmugasundram Publications for gene: EDNRB were updated from 7778600; 11891690 to 7778600; 11891690
DDG2P v3.11 EDNRA Achchuthan Shanmugasundram Mode of pathogenicity for gene EDNRA was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EDN1 Achchuthan Shanmugasundram Source Expert Review Green was added to EDN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDEM3 Achchuthan Shanmugasundram gene: EDEM3 was added
gene: EDEM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDEM3 were set to 34143952
Phenotypes for gene: EDEM3 were set to EDEM3-related congenital disorder of glycosylation, OMIM:619493
DDG2P v3.11 EDAR Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233
DDG2P v3.11 EDA Achchuthan Shanmugasundram Publications for gene: EDA were updated from 18657636; 17256800; 16583127 to 9683615; 17066260; 16583127; 9856856; 19921643; 12949972; 17256800; 19264582; 8696334; 9507389; 18657636
DDG2P v3.11 ECM1 Achchuthan Shanmugasundram gene: ECM1 was added
gene: ECM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to 25529926; 25465029; 28434238
Phenotypes for gene: ECM1 were set to LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100
DDG2P v3.11 ECHS1 Achchuthan Shanmugasundram gene: ECHS1 was added
gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
DDG2P v3.11 EBP Achchuthan Shanmugasundram Publications for gene: EBP were updated from 10942423; 10391218; 10391219; 11038443; 12503101 to 10942423; 10391218; 11038443; 10391219; 12503101
DDG2P v3.11 EBF3 Achchuthan Shanmugasundram Publications for gene: EBF3 were updated from 28017370; 28017372; 28017373 to 28017372; 28017370; 28017373
DDG2P v3.11 DYRK1A Achchuthan Shanmugasundram Publications for gene: DYRK1A were updated from 21294719; 23160955; 23099646 to 25641759; 25707398; 28053047; 21294719; 31263215; 25944381; 23160955; 31803247; 26922654; 25920557; 23099646; 29034068
DDG2P v3.11 DYNC2LI1 Achchuthan Shanmugasundram gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2LI1 were set to 26077881; 33030252; 26130459; 28857138
Phenotypes for gene: DYNC2LI1 were set to DYNC2LI1-related short-rib polydactyly, OMIM:617088
DDG2P v3.11 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DYNC1H1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other
Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677
DDG2P v3.11 DYM Achchuthan Shanmugasundram Publications for gene: DYM were updated from 12554689; 12491225; 16097008 to 16097008; 19005420; 12554689; 12491225
DDG2P v3.11 DVL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DVL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DSTYK Achchuthan Shanmugasundram Mode of inheritance for gene DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.11 DSPP Achchuthan Shanmugasundram Publications for gene: DSPP were updated from 18456718; 11175790; 14758537; 11175779 to 18456718; 11175779; 11175790; 14758537
DDG2P v3.11 DSP Achchuthan Shanmugasundram gene: DSP was added
gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSP were set to 33057194
Phenotypes for gene: DSP were set to DSP-related developmental disorder
Mode of pathogenicity for gene: DSP was set to Other
DDG2P v3.11 DSG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DSG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DSE Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DRC1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DPYSL5 was set to Other
DDG2P v3.11 DPM3 Achchuthan Shanmugasundram Source Expert Review Green was added to DPM3.
Publications for gene: DPM3 were updated from 19576565 to 35932216; 19576565
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPM1 Achchuthan Shanmugasundram Publications for gene: DPM1 were updated from 10642602; 10642597 to 10642597; 10642602
DDG2P v3.11 DPH5 Achchuthan Shanmugasundram gene: DPH5 was added
gene: DPH5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH5 were set to 35482014
Phenotypes for gene: DPH5 were set to DPH5-related neurodevelopmental disorder
DDG2P v3.11 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Mode of pathogenicity for gene DPF2 was changed from Other - please provide details in the comments to Other
Publications for gene: DPF2 were updated from 29429572 to 29429572; 35607970
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOLK Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other
Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964
DDG2P v3.11 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to DOHH-related neurodevelopmental disorder
DDG2P v3.11 DOCK7 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOCK6 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNMT3A Achchuthan Shanmugasundram Publications for gene: DNMT3A were updated from 24614070; 28475857; 29900417 to 24614070; 29900417; 28475857
DDG2P v3.11 DNM1L Achchuthan Shanmugasundram gene: DNM1L was added
gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467
Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DNM1L was set to Other
DDG2P v3.11 DNM1 Achchuthan Shanmugasundram Source Expert Review Green was added to DNM1.
Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJC12 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJB4 Achchuthan Shanmugasundram gene: DNAJB4 was added
gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36264506
Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure
DDG2P v3.11 DNAH9 Achchuthan Shanmugasundram Publications for gene: DNAH9 were updated from 30471717; 30471718 to 30471718; 30471717
DDG2P v3.11 DNAH5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAH14 Achchuthan Shanmugasundram gene: DNAH14 was added
gene: DNAH14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH14 were set to 35438214
Phenotypes for gene: DNAH14 were set to DNAH14-related Neurodevelopmental disorder
DDG2P v3.11 DNAAF5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5.
Mode of pathogenicity for gene DNAAF5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAAF3 Achchuthan Shanmugasundram Publications for gene: DNAAF3 were updated from 10745040; 22387996 to 22387996; 10745040
DDG2P v3.11 DMPK Achchuthan Shanmugasundram Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DMP1 Achchuthan Shanmugasundram Publications for gene: DMP1 were updated from 17033625; 17033621 to 17033621; 17033625
DDG2P v3.11 DMD Achchuthan Shanmugasundram Publications for gene: DMD were updated from 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582 to 15643612; 7581396; 10909857; 7881286; 7981590; 17024373; 8361506; 8279470; 1513469; 1757094; 8199594; 8281150; 8301652; 12673664; 8401539; 12754707; 12632325; 8499922; 1301174; 12794683; 8817332; 1549596; 12522557; 1383546; 8401582; 1601417; 8364587; 2071150; 8789442; 1632439; 9683584; 9410897; 8401537; 7951253; 9170407; 1307253
DDG2P v3.11 DLX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DLL3 Achchuthan Shanmugasundram Publications for gene: DLL3 were updated from 10742114; 2805381; 12791036 to 2805381; 10742114; 12791036
DDG2P v3.11 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic)
DDG2P v3.11 DLG4 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DLD Achchuthan Shanmugasundram Publications for gene: DLD were updated from to 23290025; 8968745
DDG2P v3.11 DISP1 Achchuthan Shanmugasundram gene: DISP1 was added
gene: DISP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DISP1 were set to HOLOPROSENCEPHALY, OMIM:609637
DDG2P v3.11 DIS3L2 Achchuthan Shanmugasundram Publications for gene: DIS3L2 were updated from 22306653; 6093533; 10508986 to 6093533; 10508986; 22306653
DDG2P v3.11 DIP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX37 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX37 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX34 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX34 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Mode of pathogenicity for gene DHX30 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHX16 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHTKD1 Achchuthan Shanmugasundram Source Expert Review Green was added to DHTKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHRS3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHPS Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS.
Mode of pathogenicity for gene DHPS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHFR Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHDDS Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS.
Mode of pathogenicity for gene DHDDS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHCR7 Achchuthan Shanmugasundram Publications for gene: DHCR7 were updated from 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 to 20635399; 15952211; 10677299; 11175299; 16044199; 12949967; 9653161; 12794707; 11857552; 10814720; 26969503; 9634533; 9714007; 9683613
DDG2P v3.11 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were updated from 9851433; 14510823; 23542701; 15329069; 10825362; 10577924 to 10577924; 14510823; 23542701; 9851433; 15329069; 10825362
DDG2P v3.11 DENND5A Achchuthan Shanmugasundram Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DEGS1 Achchuthan Shanmugasundram Publications for gene: DEGS1 were updated from 31186544; 30620337 to 30620337; 31186544
DDG2P v3.11 DEAF1 Achchuthan Shanmugasundram Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407
DDG2P v3.11 DDX6 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6.
Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX59 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59.
Mode of pathogenicity for gene DDX59 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX58 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX54 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were updated from 25533962 to 30734472; 25533962; 28371085; 30349862; 29490693; 26235985
DDG2P v3.11 DDX23 Achchuthan Shanmugasundram gene: DDX23 was added
gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX23 were set to 33057194
Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DDX23 was set to Other
DDG2P v3.11 DDX11 Achchuthan Shanmugasundram Publications for gene: DDX11 were updated from 23033317; 20137776 to 23033317; 20137776
DDG2P v3.11 DDR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDHD1 Achchuthan Shanmugasundram Publications for gene: DDHD1 were updated from 15786464; 23176821 to 23176821; 15786464
DDG2P v3.11 DDB2 Achchuthan Shanmugasundram Publications for gene: DDB2 were updated from 10469312; 12812979; 8798680 to 10469312; 8798680; 12812979
DDG2P v3.11 DDB1 Achchuthan Shanmugasundram gene: DDB1 was added
gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDB1 were set to 33743206
Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: DDB1 was set to Other
DDG2P v3.11 DCX Achchuthan Shanmugasundram Publications for gene: DCX were updated from 11468322; 12552055; 10441340; 9489699; 9489700 to 10441340; 9489700; 9489699; 12552055; 11468322
DDG2P v3.11 DCDC2 Achchuthan Shanmugasundram Source Expert Review Green was added to DCDC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DCC Achchuthan Shanmugasundram Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to DAW1-associated ciliopathy
DDG2P v3.11 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DAG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DAG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DACT1 Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene DACT1 was changed from to Other
Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444
DDG2P v3.11 CYP27A1 Achchuthan Shanmugasundram Source Expert Review Green was added to CYP27A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CYP1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other
Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064
DDG2P v3.11 CYFIP2 Achchuthan Shanmugasundram gene: CYFIP2 was added
gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327
Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Mode of pathogenicity for gene: CYFIP2 was set to Other
DDG2P v3.11 CYC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CYB5R3 Achchuthan Shanmugasundram Source Expert Review Green was added to CYB5R3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were updated from 28285769 to 36718996; 28285769
DDG2P v3.11 CUX2 Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2.
Mode of pathogenicity for gene CUX2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CUX1 Achchuthan Shanmugasundram gene: CUX1 was added
gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX1 were set to 30014507
Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
DDG2P v3.11 CUL7 Achchuthan Shanmugasundram Publications for gene: CUL7 were updated from 17675530; 16142236; 19225462 to 19225462; 17675530; 16142236
DDG2P v3.11 CUL3 Achchuthan Shanmugasundram Source Expert Review Green was added to CUL3.
Mode of inheritance for gene CUL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUL3 were updated from 27824329 to 31696658; 32341456; 27824329; 33097317
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTU2 Achchuthan Shanmugasundram gene: CTU2 was added
gene: CTU2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 31301155
Phenotypes for gene: CTU2 were set to MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142
DDG2P v3.11 CTSK Achchuthan Shanmugasundram Publications for gene: CTSK were updated from 10878663; 8703060; 10491211 to 10491211; 10878663; 8703060
DDG2P v3.11 CTSD Achchuthan Shanmugasundram Publications for gene: CTSD were updated from 16670177; 16685649 to 16685649; 16670177
DDG2P v3.11 CTSA Achchuthan Shanmugasundram Publications for gene: CTSA were updated from 8968752; 10944848; 8514852; 9603439; 1756715 to 8968752; 9603439; 1756715; 10944848; 8514852
DDG2P v3.11 CTNS Achchuthan Shanmugasundram Publications for gene: CTNS were updated from 19863563; 10556299; 10444339 to 10673275; 10625078; 12442267; 9792862; 11505338; 10556299; 9537412; 11565547; 10444339; 19863563
DDG2P v3.11 CTNND2 Achchuthan Shanmugasundram gene: CTNND2 was added
gene: CTNND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND2 were set to 25807484; 25839933
Phenotypes for gene: CTNND2 were set to CTNND2-related neurodevelopmental disorder
DDG2P v3.11 CTNND1 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNND1.
Publications for gene: CTNND1 were updated from 100000; 29348693; 28301459 to 100000; 32196547; 29348693; 28301459
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTNNB1 Achchuthan Shanmugasundram Publications for gene: CTNNB1 were updated from to 35880249; 30929091; 28514307; 24614104; 27915094; 26968164; 25326669
DDG2P v3.11 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTBP1 Achchuthan Shanmugasundram gene: CTBP1 was added
gene: CTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTBP1 were set to CTBP1-related developmental disorder (monoallelic)
DDG2P v3.11 CSTB Achchuthan Shanmugasundram Publications for gene: CSTB were updated from 9012407; 15329070; 9342192; 8596935 to 9012407; 8596935; 9342192; 15329070
DDG2P v3.11 CSTA Achchuthan Shanmugasundram Source Expert Review Green was added to CSTA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CSNK2B Achchuthan Shanmugasundram gene: CSNK2B was added
gene: CSNK2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2B were set to CSNK2B-related developmental disorder (monoallelic)
DDG2P v3.11 CSNK2A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK2A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSNK1G1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSF1R Achchuthan Shanmugasundram Publications for gene: CSF1R were updated from 30982608; 30982609 to 30982608; 30982609
DDG2P v3.11 CSDE1 Achchuthan Shanmugasundram gene: CSDE1 was added
gene: CSDE1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSDE1 were set to 33867523; 31579823
Phenotypes for gene: CSDE1 were set to CSDE1-associated intellectual disability and autism
DDG2P v3.11 CRYGD Achchuthan Shanmugasundram Source Expert Review Red was added to CRYGD.
Publications for gene: CRYGD were updated from 9927684 to 9927684; 17564961; 12011157; 10915766; 10521291
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYGC Achchuthan Shanmugasundram Publications for gene: CRYGC were updated from 12011157; 10521291; 10914683 to 10521291; 10914683; 12011157
DDG2P v3.11 CRYBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRYBB2 Achchuthan Shanmugasundram Publications for gene: CRYBB2 were updated from 11424921; 8812489 to 8812489; 11424921
DDG2P v3.11 CRYBB1 Achchuthan Shanmugasundram Mode of inheritance for gene CRYBB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were updated from 12360425; 17460281 to 17460281; 12360425
DDG2P v3.11 CRYBA4 Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4.
Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other
Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYAB Achchuthan Shanmugasundram Publications for gene: CRYAB were updated from 21337604 to 11577372; 21337604
DDG2P v3.11 CRYAA Achchuthan Shanmugasundram Publications for gene: CRYAA were updated from 19182255 to 11006246; 19182255
DDG2P v3.11 CRX Achchuthan Shanmugasundram Publications for gene: CRX were updated from to 9792858; 9390563; 15531334; 17320181; 25270190; 9537410; 9427255; 9931337; 12208271
DDG2P v3.11 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder
Mode of pathogenicity for gene: CRLS1 was set to Other
DDG2P v3.11 CRKL Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRELD1 Achchuthan Shanmugasundram Source Expert Review Green was added to CRELD1.
Mode of pathogenicity for gene CRELD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CREBBP Achchuthan Shanmugasundram Publications for gene: CREBBP were updated from 27311832 to 12114483; 12566391; 30737887; 20684013; 29460469; 27311832; 7630403; 11331617
DDG2P v3.11 CRB1 Achchuthan Shanmugasundram Publications for gene: CRB1 were updated from 11389483; 16543197; 11231775 to 16543197; 19140180; 11231775; 11389483; 10508521
DDG2P v3.11 CRADD Achchuthan Shanmugasundram Source Expert Review Red was added to CRADD.
Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other
Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CPSF3 Achchuthan Shanmugasundram gene: CPSF3 was added
gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly
Mode of pathogenicity for gene: CPSF3 was set to Other
DDG2P v3.11 CPS1 Achchuthan Shanmugasundram Publications for gene: CPS1 were updated from 8486760; 11474210; 9711878; 17310273; 19793055 to 9711878; 19793055; 11474210; 8486760; 17310273
DDG2P v3.11 CPAMD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CPAMD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COX7B Achchuthan Shanmugasundram Publications for gene: COX7B were updated from 23122588; 9747372 to 9747372; 23122588
DDG2P v3.11 COX16 Achchuthan Shanmugasundram gene: COX16 was added
gene: COX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to COX16-related Developmental Disorder
DDG2P v3.11 COX10 Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other
Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889
DDG2P v3.11 COQ5 Achchuthan Shanmugasundram Mode of pathogenicity for gene COQ5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COQ4 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to COPB2-associated developmental delay and microcephaly, OMIM:617800; COPB2-related developmental delay and osteopenia
DDG2P v3.11 COPB1 Achchuthan Shanmugasundram gene: COPB1 was added
gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
Mode of pathogenicity for gene: COPB1 was set to Other
DDG2P v3.11 COMP Achchuthan Shanmugasundram Source Expert Review Red was added to COMP.
Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other
Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 COLEC11 Achchuthan Shanmugasundram Publications for gene: COLEC11 were updated from 8933348; 21258343; 2569826 to 2569826; 21258343; 8933348
DDG2P v3.11 COLEC10 Achchuthan Shanmugasundram Source Expert Review Green was added to COLEC10.
Publications for gene: COLEC10 were updated from 28301481 to 28301481; 35943032
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL9A3 Achchuthan Shanmugasundram Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A3 were updated from 24273071 to 15551337; 30450842; 10655510; 24273071; 10090888; 31090205
DDG2P v3.11 COL9A2 Achchuthan Shanmugasundram Publications for gene: COL9A2 were updated from 10364514; 8528240; 12244547 to 8528240; 21671392; 10364514; 31090205; 12244547
DDG2P v3.11 COL9A1 Achchuthan Shanmugasundram Publications for gene: COL9A1 were updated from 11565064 to 16909383; 11565064
DDG2P v3.11 COL6A2 Achchuthan Shanmugasundram gene: COL6A2 was added
gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063
Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
DDG2P v3.11 COL6A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A4 Achchuthan Shanmugasundram Publications for gene: COL4A4 were updated from to 7987396; 9269635
DDG2P v3.11 COL4A3BP Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A3 Achchuthan Shanmugasundram Publications for gene: COL4A3 were updated from 11134255; 9269635 to 9792860; 7633417; 7987301; 11134255; 9269635; 7987396
DDG2P v3.11 COL4A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL2A1 Achchuthan Shanmugasundram Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962
DDG2P v3.11 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 28322503; 28276056; 31903681; 24986830
Phenotypes for gene: COL27A1 were set to Steel Syndrome
DDG2P v3.11 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653
DDG2P v3.11 COL18A1 Achchuthan Shanmugasundram Publications for gene: COL18A1 were updated from 10942434; 30007336; 19160445; 18484314; 12415512; 19160445; 28602933; 28950998 to 19390655; 18484314; 10942434; 28950998; 19160445; 27259167; 12415512; 25456301; 30007336; 28602933
DDG2P v3.11 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL11A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other
Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962
DDG2P v3.11 COL11A1 Achchuthan Shanmugasundram Publications for gene: COL11A1 were updated from 10573014; 8872475 to 10573014; 17236192; 27081569; 25091507; 25073711; 8872475; 21035103; 9529347; 10486316; 22499343
DDG2P v3.11 COL10A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409
DDG2P v3.11 COG5 Achchuthan Shanmugasundram Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COG4 Achchuthan Shanmugasundram Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were updated from to 30290151
DDG2P v3.11 COASY Achchuthan Shanmugasundram Publications for gene: COASY were updated from 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139 to 25778941; 27021474; 28489334; 11980892; 35499143; 36495139; 24360804; 30089828
DDG2P v3.11 CNTNAP2 Achchuthan Shanmugasundram Publications for gene: CNTNAP2 were updated from 19896112; 16571880; 11568923 to 11568923; 19896112; 16571880
DDG2P v3.11 CNTNAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNTNAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNPY3 Achchuthan Shanmugasundram Source Expert Review Green was added to CNPY3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNOT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT1.
Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other
Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNNM2 Achchuthan Shanmugasundram gene: CNNM2 was added
gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222
Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form
DDG2P v3.11 CNKSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNKSR2.
Publications for gene: CNKSR2 were updated from 22511892; 25644381 to 25644381; 22511892
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Publications for gene: CLTC were updated from 29100083 to 26822784; 29100083
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPP Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP.
Mode of pathogenicity for gene CLPP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPB Achchuthan Shanmugasundram Publications for gene: CLPB were updated from 25597510 to 25597510; 28687938
DDG2P v3.11 CLP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CLP1.
Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other
Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLN8 Achchuthan Shanmugasundram Publications for gene: CLN8 were updated from 10508524 to 16570191; 19431184; 10508524
DDG2P v3.11 CLN6 Achchuthan Shanmugasundram Publications for gene: CLN6 were updated from to 11727201; 15996215; 11791207
DDG2P v3.11 CLN5 Achchuthan Shanmugasundram Publications for gene: CLN5 were updated from 18684116; 20157158; 15728307; 9662406 to 9662406; 18684116; 15728307; 20157158
DDG2P v3.11 CLN3 Achchuthan Shanmugasundram Publications for gene: CLN3 were updated from 7887420; 7553855; 19489875; 9450775 to 7887420; 9450775; 7553855; 19489875
DDG2P v3.11 CLMP Achchuthan Shanmugasundram Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLIC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLDN5 Achchuthan Shanmugasundram gene: CLDN5 was added
gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLDN5 were set to 35714222
Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder
Mode of pathogenicity for gene: CLDN5 was set to Other
DDG2P v3.11 CLDN19 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLCNKB Achchuthan Shanmugasundram Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN7 Achchuthan Shanmugasundram Publications for gene: CLCN7 were updated from 17033731; 11207362; 11741829 to 17033731; 11741829; 11207362
DDG2P v3.11 CLCN6 Achchuthan Shanmugasundram gene: CLCN6 was added
gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327
Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder
Mode of pathogenicity for gene: CLCN6 was set to Other
DDG2P v3.11 CLCN4 Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4.
Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other
Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN3 Achchuthan Shanmugasundram gene: CLCN3 was added
gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN3 were set to 34186028
Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
DDG2P v3.11 CIT Achchuthan Shanmugasundram Source Expert Review Green was added to CIT.
Mode of pathogenicity for gene CIT was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CISD2 Achchuthan Shanmugasundram Publications for gene: CISD2 were updated from to 28335035; 25056293; 17846994; 10739754
DDG2P v3.11 CIC Achchuthan Shanmugasundram Source Expert Review Green was added to CIC.
Publications for gene: CIC were updated from to 35165976; 21076407; 28288114
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CIB2 Achchuthan Shanmugasundram Publications for gene: CIB2 were updated from 23023331 to 23023331; 18505454
DDG2P v3.11 CHSY1 Achchuthan Shanmugasundram Publications for gene: CHSY1 were updated from 9823490; 19952732; 21129727; 21129728 to 21129727; 19952732; 21129728; 9823490
DDG2P v3.11 CHST3 Achchuthan Shanmugasundram Publications for gene: CHST3 were updated from 19320654; 15098240; 18698629; 18513679; 112567; 20830804 to 19320654; 20830804; 112567; 15098240; 18513679; 18698629
DDG2P v3.11 CHST14 Achchuthan Shanmugasundram Publications for gene: CHST14 were updated from to 20533528; 20004762
DDG2P v3.11 CHRNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2.
Mode of pathogenicity for gene CHRNB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRNB1 Achchuthan Shanmugasundram gene: CHRNB1 was added
gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643
Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
DDG2P v3.11 CHRNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CHRNA3 Achchuthan Shanmugasundram gene: CHRNA3 was added
gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract
DDG2P v3.11 CHRNA2 Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2.
Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other
Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CHRNA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRM1 Achchuthan Shanmugasundram gene: CHRM1 was added
gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRM1 were set to 34212451
Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability
Mode of pathogenicity for gene: CHRM1 was set to Other
DDG2P v3.11 CHRDL1 Achchuthan Shanmugasundram Publications for gene: CHRDL1 were updated from 22284829 to 22284829; 26020825; 25712132
DDG2P v3.11 CHMP1A Achchuthan Shanmugasundram Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHM Achchuthan Shanmugasundram Publications for gene: CHM were updated from 7981670; 1598901; 1302003; 8477262; 12827496; 21905166 to 21905166; 1302003; 28271586; 27070432; 7981670; 27820636; 12827496; 8477262; 1598901
DDG2P v3.11 CHKA Achchuthan Shanmugasundram gene: CHKA was added
gene: CHKA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKA were set to 35202461
Phenotypes for gene: CHKA were set to CHKA-related neurodevelopmental disorder
DDG2P v3.11 CHD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD7 Achchuthan Shanmugasundram Publications for gene: CHD7 were updated from 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359 to 16400610; 18978652; 17661815; 17334995; 26590800; 17937444; 15300250; 18074359
DDG2P v3.11 CHD5 Achchuthan Shanmugasundram gene: CHD5 was added
gene: CHD5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy
DDG2P v3.11 CHD3 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3.
Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD1 Achchuthan Shanmugasundram gene: CHD1 was added
gene: CHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to CHD1-related neurodevelopment disorder
DDG2P v3.11 CHAMP1 Achchuthan Shanmugasundram Publications for gene: CHAMP1 were updated from 26340335 to 27148580; 26340335; 26751395; 35271727; 36106092
DDG2P v3.11 CFL2 Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2.
Mode of pathogenicity for gene CFL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CFC1 Achchuthan Shanmugasundram Source Expert Review Green was added to CFC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
DDG2P v3.11 CEP63 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP290 Achchuthan Shanmugasundram Publications for gene: CEP290 were updated from 17705300; 17564974 to 17705300; 16682970; 17554762; 22355252; 17564967; 17564974; 18327255; 16682973; 20690115; 16909394
DDG2P v3.11 CEP135 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CENPJ Achchuthan Shanmugasundram Publications for gene: CENPJ were updated from 20522431 to 20522431; 20978018; 16900296; 12843329; 15793586
DDG2P v3.11 CENPF Achchuthan Shanmugasundram Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CELF2 Achchuthan Shanmugasundram gene: CELF2 was added
gene: CELF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to CELF2-related neurodevelopmental disorder
DDG2P v3.11 CDT1 Achchuthan Shanmugasundram Publications for gene: CDT1 were updated from 11992493; 21358632 to 21358632; 11992493
DDG2P v3.11 CDON Achchuthan Shanmugasundram Mode of pathogenicity for gene CDON was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDKN1C Achchuthan Shanmugasundram Publications for gene: CDKN1C were updated from 22634751; 24624461; 28508599; 20503313; 8841187; 14997421; 9341892 to 9341892; 8841187; 14997421; 24624461; 20503313; 22634751; 28508599
DDG2P v3.11 CDKL5 Achchuthan Shanmugasundram Publications for gene: CDKL5 were updated from 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 to 35934918; 17993579; 18809835; 19396824; 15499549; 15689447; 19793311; 15492925; 16611748; 16813600; 19241098
DDG2P v3.11 CDK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDK5RAP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK5RAP2.
Publications for gene: CDK5RAP2 were updated from to 32015000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDK19 Achchuthan Shanmugasundram gene: CDK19 was added
gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy
Mode of pathogenicity for gene: CDK19 was set to Other
DDG2P v3.11 CDK16 Achchuthan Shanmugasundram Mode of inheritance for gene CDK16 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)
Publications for gene: CDK16 were updated from 25644381 to 25644381; 36323681
DDG2P v3.11 CDK13 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other
Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965
DDG2P v3.11 CDK10 Achchuthan Shanmugasundram Publications for gene: CDK10 were updated from 29130579; 28886341 to 28886341; 29130579
DDG2P v3.11 CDH3 Achchuthan Shanmugasundram Publications for gene: CDH3 were updated from 11544476; 12445216 to 15805154; 22140374; 11544476; 12445216
DDG2P v3.11 CDH23 Achchuthan Shanmugasundram Publications for gene: CDH23 were updated from 11090341; 15537665; 21228398; 11138009 to 21228398; 17850630; 12075507; 11138009; 15829536; 11090341; 15537665
DDG2P v3.11 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDH15 Achchuthan Shanmugasundram Publications for gene: CDH15 were updated from 19012874; 26506440 to 26506440; 19012874
DDG2P v3.11 CDH11 Achchuthan Shanmugasundram gene: CDH11 was added
gene: CDH11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 30194892; 28988429; 29271567; 34278706
Phenotypes for gene: CDH11 were set to CDH11-related, OMIM:211380
DDG2P v3.11 CDH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDH1 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH1 were updated from 100000 to 100000; 29348693
DDG2P v3.11 CDC42BPB Achchuthan Shanmugasundram gene: CDC42BPB was added
gene: CDC42BPB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to CDC42BPB-related Neurodevelopmental Disorder
DDG2P v3.11 CDC42 Achchuthan Shanmugasundram gene: CDC42 was added
gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42 were set to 26708094; 29394990; 26386261
Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder
Mode of pathogenicity for gene: CDC42 was set to Other
DDG2P v3.11 CDC40 Achchuthan Shanmugasundram gene: CDC40 was added
gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mode of pathogenicity for gene: CDC40 was set to Other
DDG2P v3.11 CD96 Achchuthan Shanmugasundram Source Expert Review Red was added to CD96.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CD151 Achchuthan Shanmugasundram Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCND2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CCND2 was changed from Other - please provide details in the comments to Other
Publications for gene: CCND2 were updated from to 24705253
DDG2P v3.11 CCDC88C Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC88A Achchuthan Shanmugasundram Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 CCDC8 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC78 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC78.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC47 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC32 Achchuthan Shanmugasundram gene: CCDC32 was added
gene: CCDC32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 35451546; 32307552
Phenotypes for gene: CCDC32 were set to CCDC32-associated neurodevelopmental syndrome
DDG2P v3.11 CCDC22 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22.
Mode of pathogenicity for gene CCDC22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC151 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CC2D2A Achchuthan Shanmugasundram Publications for gene: CC2D2A were updated from 18950740; 18387594; 22246503 to 18513680; 22246503; 18387594; 23351400; 20671153; 19777577; 2929661; 19574260; 8862632; 18950740
DDG2P v3.11 CBS Achchuthan Shanmugasundram Publications for gene: CBS were updated from 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 to 8353501; 8528202; 1301198; 10780316; 9361025; 7506602; 8990018; 14635102; 16479318; 10338090; 8755636
DDG2P v3.11 CBL Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other
Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386
DDG2P v3.11 CASK Achchuthan Shanmugasundram Publications for gene: CASK were updated from 21954287; 19165920 to 34085948; 19200522; 19165920; 21954287; 19377476; 20029458
DDG2P v3.11 CARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to CARS2.
Publications for gene: CARS2 were updated from 25787132; 25361775 to 25361775; 25787132
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CARS Achchuthan Shanmugasundram Source Expert Review Green was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAPRIN1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1.
Mode of pathogenicity for gene CAPRIN1 was changed from to Other
Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 CANT1 Achchuthan Shanmugasundram gene: CANT1 was added
gene: CANT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 19853239
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, OMIM:251450
DDG2P v3.11 CAMTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAMTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMSAP1 Achchuthan Shanmugasundram gene: CAMSAP1 was added
gene: CAMSAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to CAMSAP1-associated neuronal migration disorder
DDG2P v3.11 CAMK2G Achchuthan Shanmugasundram gene: CAMK2G was added
gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2G were set to 23033978; 30184290
Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
Mode of pathogenicity for gene: CAMK2G was set to Other
DDG2P v3.11 CAMK2B Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMK2A Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAD Achchuthan Shanmugasundram Publications for gene: CAD were updated from to 25678555; 28007989
DDG2P v3.11 CACNB4 Achchuthan Shanmugasundram Source Expert Review Red was added to CACNB4.
Publications for gene: CACNB4 were updated from to 10762541
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CACNA2D1 Achchuthan Shanmugasundram gene: CACNA2D1 was added
gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CACNA2D1 was set to Other
DDG2P v3.11 CACNA1H Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1G Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1E Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1D Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1D.
Publications for gene: CACNA1D were updated from 23913001 to 21131953; 23913001
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1C Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1B Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1A Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A.
Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other
Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA8 Achchuthan Shanmugasundram Publications for gene: CA8 were updated from 19461874; 21937992 to 21937992; 19461874
DDG2P v3.11 CA5A Achchuthan Shanmugasundram Source Expert Review Green was added to CA5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA2 Achchuthan Shanmugasundram Publications for gene: CA2 were updated from 12566520; 8127074; 5041390; 1301935 to 5041390; 12566520; 8127074; 1301935
DDG2P v3.11 C8orf37 Achchuthan Shanmugasundram Publications for gene: C8orf37 were updated from 22177090 to 27008867; 26854863; 25802487; 22177090; 26865426; 25113443
DDG2P v3.11 C2orf71 Achchuthan Shanmugasundram Publications for gene: C2orf71 were updated from to 27029556; 20398886; 24780881; 20398884
DDG2P v3.11 C2CD3 Achchuthan Shanmugasundram Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C21orf59 Achchuthan Shanmugasundram Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C1QBP Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP.
Mode of pathogenicity for gene C1QBP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C12orf65 Achchuthan Shanmugasundram Publications for gene: C12orf65 were updated from to 24198383; 20598281; 26380172; 24284555; 24080142; 24424123; 23188110; 27858754
DDG2P v3.11 C12orf57 Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57.
Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other
Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C11orf70 Achchuthan Shanmugasundram Publications for gene: C11orf70 were updated from 29727693; 29727692 to 29727692; 29727693
DDG2P v3.11 BUB1B Achchuthan Shanmugasundram Publications for gene: BUB1B were updated from 9916837; 21190457; 16411201; 11169558; 15475955 to 21190457; 9916837; 16411201; 11169558; 15475955
DDG2P v3.11 BUB1 Achchuthan Shanmugasundram gene: BUB1 was added
gene: BUB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1 were set to 35044816
Phenotypes for gene: BUB1 were set to BUB1-related microcephaly and developmental disorder
DDG2P v3.11 BTD Achchuthan Shanmugasundram Publications for gene: BTD were updated from 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148 to 7550325; 9158148; 8894703; 9375914; 10801053; 9705240; 9099842
DDG2P v3.11 BSND Achchuthan Shanmugasundram Publications for gene: BSND were updated from 19646679; 12574213; 11687798 to 12574213; 11687798; 19646679
DDG2P v3.11 BSN Achchuthan Shanmugasundram gene: BSN was added
gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BSN were set to 36600631
Phenotypes for gene: BSN were set to BSN-related epilepsy
Mode of pathogenicity for gene: BSN was set to Other
DDG2P v3.11 BRWD3 Achchuthan Shanmugasundram Publications for gene: BRWD3 were updated from 17668385 to 17668385; 30628072; 31714006
DDG2P v3.11 BRSK2 Achchuthan Shanmugasundram Source Expert Review Green was added to BRSK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRPF1 Achchuthan Shanmugasundram Publications for gene: BRPF1 were updated from 27939639; 27939640 to 27939640; 27939639
DDG2P v3.11 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519; 32896090
Phenotypes for gene: BRF1 were set to BRF1-related cerebellofaciodental syndrome, OMIM:616202
DDG2P v3.11 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Publications for gene: BRD4 were updated from 29379197; 30302754 to 30302754; 29379197
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRCA2 Achchuthan Shanmugasundram Publications for gene: BRCA2 were updated from to 14670928; 15070707; 12065746
DDG2P v3.11 BRCA1 Achchuthan Shanmugasundram Publications for gene: BRCA1 were updated from 12624153 to 34680915; 12624153
DDG2P v3.11 BRAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRAF Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other
Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262
DDG2P v3.11 BPTF Achchuthan Shanmugasundram Source Expert Review Green was added to BPTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BOLA3 Achchuthan Shanmugasundram Source Expert Review Green was added to BOLA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BMPR1B Achchuthan Shanmugasundram Publications for gene: BMPR1B were updated from 14523231; 18203755 to 18203755; 14523231
DDG2P v3.11 BMP4 Achchuthan Shanmugasundram Publications for gene: BMP4 were updated from 21340693; 18252212 to 18252212; 19249007; 21340693
DDG2P v3.11 BMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to BMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLOC1S6 Achchuthan Shanmugasundram Source Expert Review Green was added to BLOC1S6.
Publications for gene: BLOC1S6 were updated from 21665000 to 21665000; 22461475
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLM Achchuthan Shanmugasundram Publications for gene: BLM were updated from to 10678659; 7585968; 8875252
DDG2P v3.11 BIN1 Achchuthan Shanmugasundram Publications for gene: BIN1 were updated from 20142620; 17676042 to 17676042; 20142620
DDG2P v3.11 BICRA Achchuthan Shanmugasundram gene: BICRA was added
gene: BICRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to BICRA-related Developmental Disorder
DDG2P v3.11 BICD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BHLHA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other
Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284
DDG2P v3.11 BGN Achchuthan Shanmugasundram Publications for gene: BGN were updated from 27632686 to 27632686; 27236923; 34807424
DDG2P v3.11 BFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BCORL1 Achchuthan Shanmugasundram gene: BCORL1 was added
gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome
Mode of pathogenicity for gene: BCORL1 was set to Other
DDG2P v3.11 BCOR Achchuthan Shanmugasundram Publications for gene: BCOR were updated from 15957158; 19367324; 15004558; 15770227 to 29974297; 28317252; 19367324; 15957158; 31048080; 15004558; 15770227
DDG2P v3.11 BCL11B Achchuthan Shanmugasundram gene: BCL11B was added
gene: BCL11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11B were set to BCL11B-related developmental disorder (monoallelic)
DDG2P v3.11 BCL11A Achchuthan Shanmugasundram Publications for gene: BCL11A were updated from 27453576; 25533962 to 25533962; 35856171; 27453576
DDG2P v3.11 BCKDHA Achchuthan Shanmugasundram Publications for gene: BCKDHA were updated from 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 to 1847055; 1990841; 14508502; 11509994; 9582350; 2703538; 18378174; 14742428; 9621512; 8430702; 7883996; 2010537; 2022752
DDG2P v3.11 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
DDG2P v3.11 BBS9 Achchuthan Shanmugasundram Publications for gene: BBS9 were updated from to 16380913; 22353939
DDG2P v3.11 BBS7 Achchuthan Shanmugasundram Publications for gene: BBS7 were updated from to 12567324
DDG2P v3.11 BBS5 Achchuthan Shanmugasundram Publications for gene: BBS5 were updated from to 18203199; 15137946
DDG2P v3.11 BBS4 Achchuthan Shanmugasundram Publications for gene: BBS4 were updated from to 11381270; 12016587
DDG2P v3.11 BBS2 Achchuthan Shanmugasundram Publications for gene: BBS2 were updated from to 20618352; 11567139; 16823392; 11285252
DDG2P v3.11 BBS12 Achchuthan Shanmugasundram Publications for gene: BBS12 were updated from to 19797195; 26082521; 17160889; 20827784
DDG2P v3.11 BBS10 Achchuthan Shanmugasundram Publications for gene: BBS10 were updated from to 26762677; 20805367; 16582908
DDG2P v3.11 BBS1 Achchuthan Shanmugasundram Publications for gene: BBS1 were updated from to 23143442; 12524598; 10577922; 10577921; 20177705; 12118255; 12837689
DDG2P v3.11 BAZ2B Achchuthan Shanmugasundram gene: BAZ2B was added
gene: BAZ2B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to BAZ2B-associated neurodevelopmental disorder
DDG2P v3.11 BAP1 Achchuthan Shanmugasundram gene: BAP1 was added
gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAP1 were set to 35051358
Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: BAP1 was set to Other
DDG2P v3.11 BANF1 Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1.
Mode of pathogenicity for gene BANF1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B9D1 Achchuthan Shanmugasundram Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B4GALT1 Achchuthan Shanmugasundram gene: B4GALT1 was added
gene: B4GALT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT1 were set to 32157688; 21920538; 11901181
Phenotypes for gene: B4GALT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091
DDG2P v3.11 B3GAT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene B3GAT3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 B3GALNT2 Achchuthan Shanmugasundram Source Expert Review Green was added to B3GALNT2.
Publications for gene: B3GALNT2 were updated from 23453667 to 29791932; 23453667
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AXIN1 Achchuthan Shanmugasundram Mode of inheritance for gene AXIN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene AXIN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AUTS2 Achchuthan Shanmugasundram Publications for gene: AUTS2 were updated from 23332918 to 26545289; 23650183; 25205402; 23332918; 31788251; 27531620; 27075013; 24459036
DDG2P v3.11 AUH Achchuthan Shanmugasundram Publications for gene: AUH were updated from 20855850; 15033206; 12434311; 10070612; 6181239 to 6181239; 20855850; 15033206; 10070612; 12434311
DDG2P v3.11 ATRX Achchuthan Shanmugasundram Publications for gene: ATRX were updated from 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714 to 16222662; 9244431; 7697714; 10632111; 15565397; 10751095; 9598720; 9043863; 10995512; 8644709; 6711605; 12116232; 6682021
DDG2P v3.11 ATR Achchuthan Shanmugasundram Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP9A Achchuthan Shanmugasundram gene: ATP9A was added
gene: ATP9A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295
Phenotypes for gene: ATP9A were set to ATP9A-related neurodevelopmental disorder
DDG2P v3.11 ATP8A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528
DDG2P v3.11 ATP7A Achchuthan Shanmugasundram Publications for gene: ATP7A were updated from 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 to 8149649; 11431706; 15372525; 19194885; 9246006; 17108763; 20170900; 10739752; 14635105; 9894833; 12221109; 19153371; 7842019; 8812725
DDG2P v3.11 ATP6V1E1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1.
Mode of pathogenicity for gene ATP6V1E1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1B2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2.
Mode of pathogenicity for gene ATP6V1B2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1A Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1A.
Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other
Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V0C Achchuthan Shanmugasundram gene: ATP6V0C was added
gene: ATP6V0C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0C were set to 36074901; 33190975; 24623842; 28135719
Phenotypes for gene: ATP6V0C were set to ATP6V0C-related Developmental Disorder
DDG2P v3.11 ATP6V0A1 Achchuthan Shanmugasundram gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224
Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ATP6V0A1 was set to Other
DDG2P v3.11 ATP6AP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATP5D Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5D.
Mode of pathogenicity for gene ATP5D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP5A1 Achchuthan Shanmugasundram gene: ATP5A1 was added
gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069
Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia
Mode of pathogenicity for gene: ATP5A1 was set to Other
DDG2P v3.11 ATP2B1 Achchuthan Shanmugasundram gene: ATP2B1 was added
gene: ATP2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2B1 were set to 35358416
Phenotypes for gene: ATP2B1 were set to ATP2B1-related neurodevelopmental disorder
DDG2P v3.11 ATP1A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP1A3 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP1A3 were updated from 22842232 to 33880529; 22842232
DDG2P v3.11 ATP1A2 Achchuthan Shanmugasundram gene: ATP1A2 was added
gene: ATP1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 31608932; 20837964; 17435187; 30690204; 33880529; 33493807
Phenotypes for gene: ATP1A2 were set to ATP1A2-related epileptic encephalopathy; MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related; Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
DDG2P v3.11 ATP1A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP1A1.
Mode of pathogenicity for gene ATP1A1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATOH7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Mode of pathogenicity for gene ATN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATM Achchuthan Shanmugasundram Publications for gene: ATM were updated from 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587 to 8755918; 9887333; 11826028; 8808599; 9450874; 9600235; 7792600; 11889466; 22345219; 8968760; 2491181; 9521587; 9443866; 9781027
DDG2P v3.11 ATL1 Achchuthan Shanmugasundram gene: ATL1 was added
gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 35925862
Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia
DDG2P v3.11 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Source DD-Gene2Phenotype was added to ATG7.
Added phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422 for gene: ATG7
Publications for gene: ATG7 were updated from PMID:34161705 to 34161705; PMID:34161705
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 ATG4D Achchuthan Shanmugasundram gene: ATG4D was added
gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG4D were set to 36765070
Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder
Mode of pathogenicity for gene: ATG4D was set to Other
DDG2P v3.11 ATAD3A Achchuthan Shanmugasundram Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were updated from 27640307 to 32004445; 27640307
DDG2P v3.11 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Publications for gene: ASXL3 were updated from 23383720 to 29316359; 24044690; 29367179; 31180560; 27075689; 27901041; 29305346; 28955728; 23383720; 28100473; 32240826; 31638014; 29445472
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL1 Achchuthan Shanmugasundram Publications for gene: ASXL1 were updated from 21706002; 22419483 to 22419483; 21706002
DDG2P v3.11 ASPH Achchuthan Shanmugasundram Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASPA Achchuthan Shanmugasundram Publications for gene: ASPA were updated from 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 to 8088831; 8659549; 12638939; 7599639; 8252036; 10564886; 10909858; 7668285; 8023850; 16437572
DDG2P v3.11 ASNS Achchuthan Shanmugasundram gene: ASNS was added
gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574
DDG2P v3.11 ASL Achchuthan Shanmugasundram Publications for gene: ASL were updated from 2263616; 12408190; 12384776 to 2263616; 12408190; 12384776
DDG2P v3.11 ASH1L Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L.
Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other
Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASCL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC1 Achchuthan Shanmugasundram Publications for gene: ASCC1 were updated from 26924529 to 35838082; 26924529
DDG2P v3.11 ASAH1 Achchuthan Shanmugasundram Publications for gene: ASAH1 were updated from 22703880 to 22703880; 8955159; 11241842; 10610716; 16951918
DDG2P v3.11 ARX Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467
DDG2P v3.11 ARSE Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863
DDG2P v3.11 ARSB Achchuthan Shanmugasundram Publications for gene: ARSB were updated from 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 to 1550123; 17643332; 8723688; 1301949; 1718978; 8651289
DDG2P v3.11 ARSA Achchuthan Shanmugasundram Publications for gene: ARSA were updated from 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 to 1670590; 7906588; 8101038; 8104633; 9600244; 11941485; 11456299; 7833949; 7909527; 7858169; 1678251; 7815433; 1353340; 1673291; 12788103; 2574462; 11061266; 8101083; 7902317; 7866401; 1676699; 7981715; 1684088
DDG2P v3.11 ARPC4 Achchuthan Shanmugasundram gene: ARPC4 was added
gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay
Mode of pathogenicity for gene: ARPC4 was set to Other
DDG2P v3.11 ARNT2 Achchuthan Shanmugasundram gene: ARNT2 was added
gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926
DDG2P v3.11 ARL6 Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913
DDG2P v3.11 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Publications for gene: ARID2 were updated from 28124119 to 36756859; 28124119
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARID1B Achchuthan Shanmugasundram Publications for gene: ARID1B were updated from 22426309; 22426308; 22405089; 30349098 to 30349098; 22426309; 22426308; 22405089
DDG2P v3.11 ARHGEF9 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 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)
Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ARHGAP35 Achchuthan Shanmugasundram gene: ARHGAP35 was added
gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP35 were set to 33057194; 28641477
Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic)
DDG2P v3.11 ARHGAP31 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGAP31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARG1 Achchuthan Shanmugasundram Publications for gene: ARG1 were updated from 10502833; 2365823; 1463019; 7649538; 1598908 to 1463019; 1598908; 2365823; 10502833; 7649538
DDG2P v3.11 ARFGEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARFGEF1 Achchuthan Shanmugasundram gene: ARFGEF1 was added
gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARFGEF1 were set to 34113008
Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy
DDG2P v3.11 ARF3 Achchuthan Shanmugasundram gene: ARF3 was added
gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF3 were set to 36369169
Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder
Mode of pathogenicity for gene: ARF3 was set to Other
DDG2P v3.11 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF1 were set to 33057194; 28868155; 34353862
Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Mode of pathogenicity for gene: ARF1 was set to Other
DDG2P v3.11 ARCN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 APTX Achchuthan Shanmugasundram Publications for gene: APTX were updated from 12196655; 11586300; 11586299; 15365154; 15852392 to 15852392; 11586300; 12196655; 11586299; 15365154
DDG2P v3.11 APOPT1 Achchuthan Shanmugasundram Publications for gene: APOPT1 were updated from to 25175347; 27588451
DDG2P v3.11 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4S1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4M1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4B1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4B1.
Publications for gene: AP4B1 were updated from 21620353; 22290197 to 22290197; 21620353
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP3B2 Achchuthan Shanmugasundram Source Expert Review Green was added to AP3B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP2S1 Achchuthan Shanmugasundram gene: AP2S1 was added
gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP2S1 were set to 33057194
Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AP2S1 was set to Other
DDG2P v3.11 AP2M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1.
Mode of pathogenicity for gene AP2M1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP1S2 Achchuthan Shanmugasundram Publications for gene: AP1S2 were updated from 17617514; 5054319; 10398241; 17186471; 12599187 to 17617514; 17186471; 12599187; 5054319; 10398241
DDG2P v3.11 AP1G1 Achchuthan Shanmugasundram gene: AP1G1 was added
gene: AP1G1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP1G1 were set to 34102099
Phenotypes for gene: AP1G1 were set to AP1G1-related intellectual disability, biallelic; AP1G1-related intellectual disability and epilepsy, monoallelic
DDG2P v3.11 AP1B1 Achchuthan Shanmugasundram gene: AP1B1 was added
gene: AP1B1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630791; 31630788
Phenotypes for gene: AP1B1 were set to MEDNIK-like Syndrome
DDG2P v3.11 ANO5 Achchuthan Shanmugasundram Mode of inheritance for gene ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 ANO1 Achchuthan Shanmugasundram gene: ANO1 was added
gene: ANO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to ANO1-associated intestinal disease
DDG2P v3.11 ANKRD26 Achchuthan Shanmugasundram Source Expert Review Green was added to ANKRD26.
Mode of pathogenicity for gene ANKRD26 was changed from Other - please provide details in the comments to Other
Publications for gene: ANKRD26 were updated from 21211618; 10521306 to 10521306; 21211618
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to ANKRD17-associated neurodevelopmental disorder
DDG2P v3.11 ANKRD11 Achchuthan Shanmugasundram Publications for gene: ANKRD11 were updated from 15523620; 15378538; 21782149 to 23494856; 25464108; 30877071; 15378538; 28449295; 23184435; 29224748; 30088855; 25652421; 21782149; 15523620; 28250421; 27667800; 27900361; 25838844
DDG2P v3.11 ANKH Achchuthan Shanmugasundram Publications for gene: ANKH were updated from 13130483; 8528213; 12297987; 8244341; 12297989; 9915952 to 9915952; 12297989; 12297987; 2712793; 13130483; 8528213; 11326272; 14322785; 8244341; 20358596
DDG2P v3.11 ANK2 Achchuthan Shanmugasundram gene: ANK2 was added
gene: ANK2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANK2 were set to 25356970; 30755392; 22542183; 28191889
Phenotypes for gene: ANK2 were set to ANK2-related neurodevelopmental disorder
DDG2P v3.11 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Source DD-Gene2Phenotype was added to AMOTL1.
Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1
Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 AMER1 Achchuthan Shanmugasundram Publications for gene: AMER1 were updated from to 19079258
DDG2P v3.11 ALPL Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ALMS1 Achchuthan Shanmugasundram Publications for gene: ALMS1 were updated from 11941370; 11941369; 21877133; 9063741; 17594715; 17850632 to 11941369; 22043170; 9063741; 17850632; 21877133; 17594715; 11941370
DDG2P v3.11 ALKBH8 Achchuthan Shanmugasundram gene: ALKBH8 was added
gene: ALKBH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898; 33544954; 34757492
Phenotypes for gene: ALKBH8 were set to ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504
DDG2P v3.11 ALG9 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG13 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13.
Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other
Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG12 Achchuthan Shanmugasundram Publications for gene: ALG12 were updated from 12217961; 11983712; 12093361 to 11983712; 12093361; 12217961
DDG2P v3.11 ALG11 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALDOA Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other
Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869
DDG2P v3.11 ALDH7A1 Achchuthan Shanmugasundram Publications for gene: ALDH7A1 were updated from 16491085; 17721876; 17068770 to 17068770; 16491085; 17721876
DDG2P v3.11 ALDH3A2 Achchuthan Shanmugasundram Publications for gene: ALDH3A2 were updated from 9250352; 9254849; 8528251; 10792573; 10577908 to 9250352; 10577908; 10792573; 8528251; 9254849
DDG2P v3.11 ALDH1A3 Achchuthan Shanmugasundram Publications for gene: ALDH1A3 were updated from 23312594 to 24568872; 23312594; 26873617; 23646827; 24024553; 24777706; 23591992
DDG2P v3.11 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183
Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Mode of pathogenicity for gene: ALDH1A2 was set to Other
DDG2P v3.11 ALDH18A1 Achchuthan Shanmugasundram Publications for gene: ALDH18A1 were updated from 26320891 to 26829900; 26297557; 26320891; 26297558; 28228640; 26026163
DDG2P v3.11 ALAD Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD.
Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 AKT3 Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3.
Mode of pathogenicity for gene AKT3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AKT2 Achchuthan Shanmugasundram gene: AKT2 was added
gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934
Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Mode of pathogenicity for gene: AKT2 was set to Other
DDG2P v3.11 AKT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene AKT1 was changed from Other - please provide details in the comments to Other
Publications for gene: AKT1 were updated from 21793738; 22876373 to 22876373; 21793738
DDG2P v3.11 AIRE Achchuthan Shanmugasundram Publications for gene: AIRE were updated from 9398839 to 9398839; 12050215; 16965330; 9398840; 9837820
DDG2P v3.11 AIPL1 Achchuthan Shanmugasundram Publications for gene: AIPL1 were updated from 10615133; 10873396 to 10615133; 26650897; 10873396
DDG2P v3.11 AIMP1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AIFM1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1.
Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other
Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AHI1 Achchuthan Shanmugasundram Publications for gene: AHI1 were updated from 16453322 to 25616960; 16453322; 16155189; 15467982; 25356976; 28442542; 16240161
DDG2P v3.11 AHDC1 Achchuthan Shanmugasundram Publications for gene: AHDC1 were updated from 24791903 to 31182893; 27148574; 30622101; 30729726; 30152016; 29230160; 30858058; 24791903; 29696776; 35596688; 32256298; 31812316
DDG2P v3.11 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779
Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
DDG2P v3.11 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other
Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941
DDG2P v3.11 AGO1 Achchuthan Shanmugasundram gene: AGO1 was added
gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AGO1 were set to 35060114
Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AGO1 was set to Other
DDG2P v3.11 AGL Achchuthan Shanmugasundram Publications for gene: AGL were updated from 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417 to 8702417; 19834502; 9412782; 8990006; 11378828; 10571954; 8755644; 10925384; 10655153; 9490286
DDG2P v3.11 AGK Achchuthan Shanmugasundram Publications for gene: AGK were updated from 15168109; 22284826; 22277967; 3560758 to 22415731; 22284826; 22277967; 26622071; 3560758; 25208612; 15168109; 23266196
DDG2P v3.11 AGA Achchuthan Shanmugasundram Publications for gene: AGA were updated from 6883788; 1765378; 8776587 to 1765378; 8776587; 6883788
DDG2P v3.11 AFG3L2 Achchuthan Shanmugasundram Source Expert Review Red was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 AFF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene AFF4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other
Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AFF2 Achchuthan Shanmugasundram Publications for gene: AFF2 were updated from 21739600; 8334699 to 8334699; 21739600
DDG2P v3.11 ADSL Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other
Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474
DDG2P v3.11 ADRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ADRA2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADPRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ADPRHL2.
Publications for gene: ADPRHL2 were updated from 30388405; 30401461 to 30401461; 30388405
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADNP Achchuthan Shanmugasundram Publications for gene: ADNP were updated from 24531329 to 28475273; 29475819; 30107084; 32275126; 25169753; 28221363; 29724491; 31127536; 27031564; 24531329; 28407407
DDG2P v3.11 ADK Achchuthan Shanmugasundram Mode of pathogenicity for gene ADK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADCY5 Achchuthan Shanmugasundram gene: ADCY5 was added
gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ADCY5 was set to Other
DDG2P v3.11 ADARB1 Achchuthan Shanmugasundram gene: ADARB1 was added
gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures
Mode of pathogenicity for gene: ADARB1 was set to Other
DDG2P v3.11 ADAR Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015
DDG2P v3.11 ADAMTSL2 Achchuthan Shanmugasundram gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 18677313; 21415077
Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1
DDG2P v3.11 ADAMTS9 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9.
Mode of pathogenicity for gene ADAMTS9 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADAMTS18 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18.
Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ADAM22 Achchuthan Shanmugasundram gene: ADAM22 was added
gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 35373813
Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy
DDG2P v3.11 ADA Achchuthan Shanmugasundram Publications for gene: ADA were updated from 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 to 8227344; 9225964; 46025; 21228398; 8031011; 3684597; 3475710; 2783588; 9361033; 8673127; 11807006; 980079; 2166947; 8614422; 1680289; 3839802; 3182793
DDG2P v3.11 ACY1 Achchuthan Shanmugasundram Publications for gene: ACY1 were updated from 17562838; 16274666; 16465618 to 17562838; 16465618; 16274666
DDG2P v3.11 ACVR2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACVR1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1.
Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other
Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACTL6B Achchuthan Shanmugasundram Publications for gene: ACTL6B were updated from 28867141; 31130285 to 28867141; 30656450; 31031012; 31130285
DDG2P v3.11 ACTG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACTB Achchuthan Shanmugasundram Publications for gene: ACTB were updated from 100000; 22366783 to 29220674; 22366783; 100000; 27625340
DDG2P v3.11 ACTA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other
Publications for gene: ACTA2 were updated from to 35567597
DDG2P v3.11 ACTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1.
Mode of pathogenicity for gene ACTA1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACSL4 Achchuthan Shanmugasundram Source Expert Review Green was added to ACSL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACP5 Achchuthan Shanmugasundram Publications for gene: ACP5 were updated from 12786759; 21217752; 21217755; 16470600; 13524805 to 21217755; 16470600; 21217752; 12786759; 13524805
DDG2P v3.11 ACOX1 Achchuthan Shanmugasundram Publications for gene: ACOX1 were updated from 17458872; 8279468; 11815777; 2894756; 18536048 to 17458872; 2894756; 8279468; 18536048; 11815777
DDG2P v3.11 ACO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were updated from 22405087; 34056600 to 28545339; 29577077; 29564393; 22405087; 34056600; 31106992
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACER3 Achchuthan Shanmugasundram gene: ACER3 was added
gene: ACER3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 34281620; 32816236
Phenotypes for gene: ACER3 were set to ACER3-related leukodystrophy, OMIM:617762
DDG2P v3.11 ACBD5 Achchuthan Shanmugasundram gene: ACBD5 was added
gene: ACBD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409; 33427402
Phenotypes for gene: ACBD5 were set to ACBD5 deficiency, OMIM:618863
DDG2P v3.11 ACAT1 Achchuthan Shanmugasundram Publications for gene: ACAT1 were updated from 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617 to 7907600; 4690360; 1715688; 1627655; 9700610; 1346617; 11914035; 1979337
DDG2P v3.11 ACADVL Achchuthan Shanmugasundram Publications for gene: ACADVL were updated from 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 to 8554073; 9546340; 9709714; 7668252; 11158518; 7479827; 10790204
DDG2P v3.11 ACADS Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACADM Achchuthan Shanmugasundram Publications for gene: ACADM were updated from 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 to 7929823; 1684086; 6434827; 1972503; 7603790; 11409868; 11349232; 9158144
DDG2P v3.11 ABL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ABL1.
Mode of pathogenicity for gene ABL1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34587489
Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
DDG2P v3.11 ABCD4 Achchuthan Shanmugasundram Source Expert Review Green was added to ABCD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABCD1 Achchuthan Shanmugasundram Publications for gene: ABCD1 were updated from to 7904210; 8441467; 11748843
DDG2P v3.11 ABCC9 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCC6 Achchuthan Shanmugasundram Publications for gene: ABCC6 were updated from 22209248 to 10835642; 22209248; 10811882; 10835643
DDG2P v3.11 ABCB7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB11 Achchuthan Shanmugasundram Publications for gene: ABCB11 were updated from 10579978; 16039748; 9806540 to 10579978; 16039748; 9806540
DDG2P v3.11 ABAT Achchuthan Shanmugasundram gene: ABAT was added
gene: ABAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 28411234; 27903293; 27376954
Phenotypes for gene: ABAT were set to ABAT-related GABA-transaminase Deficiency
DDG2P v3.11 AASS Achchuthan Shanmugasundram Source Expert Review Green was added to AASS.
Publications for gene: AASS were updated from 934735; 10775527 to 23570448; 10775527; 934735
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AARS Achchuthan Shanmugasundram Source Expert Review Green was added to AARS.
Publications for gene: AARS were updated from 25817015 to 25817015; 34446925
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AAAS Achchuthan Shanmugasundram Publications for gene: AAAS were updated from 11701718; 11159947; 18628786; 15173230; 11062474 to 11701718; 11062474; 15173230; 11159947; 18628786
Mosaic skin disorders - Deep sequencing v2.37 AKT2 Arina Puzriakova commented on gene: AKT2
Mosaic skin disorders - Deep sequencing v2.37 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Mosaic skin disorders - Deep sequencing v2.36 AKT2 Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - Deep sequencing v2.35 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Overgrowth syndrome (not always mosaic in this case) to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Mosaic skin disorders - Deep sequencing v2.34 KITLG Arina Puzriakova Phenotypes for gene: KITLG were changed from Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation to Linear and whorled nevoid hypermelanosis (LWNH); Hyperpigmentation with or without hypopigmentation, OMIM:145250
Mosaic skin disorders - Deep sequencing v2.33 KITLG Arina Puzriakova Publications for gene: KITLG were set to
Mosaic skin disorders - Deep sequencing v2.32 KITLG Arina Puzriakova Classified gene: KITLG as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.32 KITLG Arina Puzriakova Added comment: Comment on list classification: Upgrading rating from Grey (removed) to Amber. One patient has been reported with congenital linear and mottled hyperpigmentation on trunk and limbs due to a de novo postzygotic KITLG variant (p.Asp110Gly). Immunohistochemistry suggested that this variant results in increased epidermal expression of KITLG and an increased number of epidermal melanocytes (PMID: 28257793).

The germline phenotype (OMIM:145250) is more likely to be tested under R236 and as there is only one somatic case with a mosaic presentation, suggesting an Amber rating while awaiting further evidence (added 'watchlist' tag).
Mosaic skin disorders - Deep sequencing v2.32 KITLG Arina Puzriakova Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v2.31 KITLG Arina Puzriakova Tag curated_removed was removed from gene: KITLG.
Tag watchlist tag was added to gene: KITLG.
Pigmentary skin disorders v3.2 KITLG Arina Puzriakova Phenotypes for gene: KITLG were changed from HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation; FPHH to Hyperpigmentation with or without hypopigmentation, OMIM:145250; Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation; FPHH
Dystonia, chorea or related movement disorder, childhood onset v3.48 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Intellectual disability v5.285 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Early onset or syndromic epilepsy v4.102 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Monogenic hearing loss v4.18 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Hereditary spastic paraplegia, childhood onset v4.18 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Severe microcephaly v4.31 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Early onset dystonia v1.135 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Mitochondrial disorders v4.93 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Intellectual disability v5.285 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Early onset or syndromic epilepsy v4.102 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Monogenic hearing loss v4.18 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
DDG2P v3.10 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Fetal anomalies v3.109 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Structural eye disease v3.21 ALX1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALX1.
Tag Q3_23_NHS_review tag was added to gene: ALX1.
Clefting v4.98 ALX1 Sarah Leigh Phenotypes for gene: ALX1 were changed from ?Frontonasal dysplasia 3, 613456 to Frontonasal dysplasia 3, OMIM:613456; frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Clefting v4.97 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 27324866; 26610632
Clefting v4.96 ALX1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALX1.
Clefting v4.96 ALX1 Sarah Leigh Classified gene: ALX1 as Amber List (moderate evidence)
Clefting v4.96 ALX1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Clefting v4.96 ALX1 Sarah Leigh Gene: alx1 has been classified as Amber List (Moderate Evidence).
Clefting v4.95 ALX1 Sarah Leigh reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.21 ALX1 Sarah Leigh Classified gene: ALX1 as Amber List (moderate evidence)
Structural eye disease v3.21 ALX1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.21 ALX1 Sarah Leigh Gene: alx1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.20 ALX1 Sarah Leigh reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.20 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578; 27324866; 32914578
Structural eye disease v3.19 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578; 27324866
Structural eye disease v3.18 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813; 32914578
Structural eye disease v3.17 ALX1 Sarah Leigh Deleted their review
Structural eye disease v3.17 ALX1 Sarah Leigh Deleted their comment
Structural eye disease v3.17 ALX1 Sarah Leigh Added comment: Comment on phenotypes: Frontonasal dysplasia 3, OMIM:613456;frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Structural eye disease v3.17 ALX1 Sarah Leigh Phenotypes for gene: ALX1 were changed from Frontonasal Dysplasia 3, FND3, 613456 to Frontonasal dysplasia 3, OMIM:613456; frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
Structural eye disease v3.16 ALX1 Sarah Leigh Publications for gene: ALX1 were set to 20451171; 23059813
Structural eye disease v3.15 OFD1 Sarah Leigh edited their review of gene: OFD1: Added comment: OFD1 variants have been associated with Joubert syndrome 10 (OMIM:300804) and as definitive Gen2Phen gene for the same condition. Ocular colobomas have been seen in at least four male patients with hemizygous OFD1 variants (PMIDs 28173652;35398350;30895720;28505061) and microphthalmia was seen in one case (PMID: 30895720).; Changed rating: GREEN
Structural eye disease v3.15 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Structural eye disease v3.14 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608
Structural eye disease v3.13 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720; 28505061; 30401917; 31366608; 31373179
Structural eye disease v3.12 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652; 35398350; 30895720
Structural eye disease v3.11 OFD1 Sarah Leigh Classified gene: OFD1 as Amber List (moderate evidence)
Structural eye disease v3.11 OFD1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.11 OFD1 Sarah Leigh Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.10 OFD1 Sarah Leigh Phenotypes for gene: OFD1 were changed from ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; X-linked Joubert syndrome; Oral-facial-digital syndrome I to Joubert syndrome 10, OMIM:300804; Joubert syndrome 10, MONDO:0010431
Structural eye disease v3.9 OFD1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: OFD1.
Tag Q3_23_NHS_review tag was added to gene: OFD1.
Structural eye disease v3.9 OFD1 Sarah Leigh Publications for gene: OFD1 were set to 28173652
Structural eye disease v3.8 MIR204 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204.
Tag Q3_23_NHS_review tag was added to gene: MIR204.
Retinal disorders v4.32 MIR204 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204.
Tag Q3_23_NHS_review tag was added to gene: MIR204.
Retinal disorders v4.32 NBAS Sarah Leigh edited their review of gene: NBAS: Added comment: Based on the evidence cited by Siying Lin (Moorfields Eye Hospital)(PMIDs: 20577004, 28115293, 36479642, 34110364) and the case found in their clinical practice; cone dysfunction is a feature of the ocular phenotype associated with biallelic NBAS variants.; Changed rating: GREEN
Retinal disorders v4.32 NBAS Sarah Leigh Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.31 NBAS Sarah Leigh Classified gene: NBAS as Amber List (moderate evidence)
Retinal disorders v4.31 NBAS Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v4.31 NBAS Sarah Leigh Gene: nbas has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.30 NBAS Sarah Leigh Tag Q3_23_promote_green tag was added to gene: NBAS.
Tag Q3_23_NHS_review tag was added to gene: NBAS.
Retinal disorders v4.30 NBAS Sarah Leigh Phenotypes for gene: NBAS were changed from to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800; short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Retinal disorders v4.29 NBAS Sarah Leigh Publications for gene: NBAS were set to
Retinal disorders v4.28 MIR204 Sarah Leigh Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.
Retinal disorders v4.28 MIR204 Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v3.8 MIR204 Sarah Leigh Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism.
Structural eye disease v3.8 MIR204 Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v3.7 MIR204 Sarah Leigh Classified gene: MIR204 as Amber List (moderate evidence)
Structural eye disease v3.7 MIR204 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.7 MIR204 Sarah Leigh Gene: mir204 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.27 MIR204 Sarah Leigh Classified gene: MIR204 as Amber List (moderate evidence)
Retinal disorders v4.27 MIR204 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Retinal disorders v4.27 MIR204 Sarah Leigh Gene: mir204 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.26 MIR204 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: MIR204.
Structural eye disease v3.6 MIR204 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: MIR204.
Structural eye disease v3.6 MIR204 Sarah Leigh Publications for gene: MIR204 were set to 26056285
Structural eye disease v3.5 MIR204 Sarah Leigh reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v4.26 MIR204 Sarah Leigh reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v3.5 MIR204 Sarah Leigh Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722 to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Retinal disorders v4.26 MIR204 Sarah Leigh Phenotypes for gene: MIR204 were changed from to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747
Retinal disorders v4.25 MIR204 Sarah Leigh Publications for gene: MIR204 were set to
Congenital muscular dystrophy v4.13 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from Walker Warburg Syndrome to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Congenital muscular dystrophy v4.12 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620; 18160688; 20818663
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: COL4A1.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: Based on the review published by Rannikmäe et al (PMID: 32842921), numerous COL4A1 variants have been associated with muscle phenotypes (supplementary table IIIA).; Changed rating: GREEN; Changed publications to: 32842921
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Classified gene: COL4A1 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.10 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620
Hereditary neuropathy or pain disorder v3.56 RFC1 Sarah Leigh reviewed gene: RFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v4.102 CRELD1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: CRELD1.
Early onset or syndromic epilepsy v4.102 CRELD1 Sarah Leigh edited their review of gene: CRELD1: Changed rating: GREEN
Early onset or syndromic epilepsy v4.102 CRELD1 Sarah Leigh Classified gene: CRELD1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.102 CRELD1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v4.102 CRELD1 Sarah Leigh Gene: creld1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.101 CRELD1 Sarah Leigh changed review comment from: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

This data has been submitted for publication

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.; to: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

This data has been accepted for publication.

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.
Neonatal diabetes - small panel v1.3 Achchuthan Shanmugasundram Panel version 1.2 has been signed off on 2023-09-26
Neonatal diabetes - small panel v1.2 KCNJ11 Achchuthan Shanmugasundram changed review comment from: KCNJ11 has been added to the panel for R143 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.; to: KCNJ11 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.
Neonatal diabetes - small panel v1.2 ABCC8 Achchuthan Shanmugasundram changed review comment from: ABCC8 has been added to the panel for R143 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.; to: ABCC8 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.
Neonatal diabetes - small panel v1.2 Achchuthan Shanmugasundram List of related panels changed from R143; Neonatal diabetes to R143.1; Neonatal diabetes
Retinal disorders v4.24 NBAS Siying Lin reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 20577004, 28115293, 36479642, 34110364; Phenotypes: Optic atrophy, Cone dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SEC63.
Tag Q3_23_NHS_review tag was added to gene: SEC63.
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Classified gene: SEC63 as Amber List (moderate evidence)
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 2 with both renal and hepatic cysts.
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Gene: sec63 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v4.14 SEC63 Achchuthan Shanmugasundram Publications for gene: SEC63 were set to 15133510,
Cystic kidney disease v4.13 SEC63 Achchuthan Shanmugasundram Publications for gene: SEC63 were set to
Cystic kidney disease v4.12 SEC63 Achchuthan Shanmugasundram Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Cystic kidney disease v4.11 SEC63 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC63 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.10 SEC63 Achchuthan Shanmugasundram reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 2 with or without kidney cysts, OMIM:617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.10 PRKCSH Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 1 with renal cysts.; to: Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 1 with both renal and hepatic cysts.
Cystic kidney disease v4.10 PRKCSH Achchuthan Shanmugasundram Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Cystic kidney disease v4.9 PRKCSH Achchuthan Shanmugasundram Publications for gene: PRKCSH were set to 12529853; 12577059; 24886261
Cystic kidney disease v4.9 PRKCSH Achchuthan Shanmugasundram Publications for gene: PRKCSH were set to
Cystic kidney disease v4.8 PRKCSH Achchuthan Shanmugasundram Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.7 PRKCSH Achchuthan Shanmugasundram Classified gene: PRKCSH as Amber List (moderate evidence)
Cystic kidney disease v4.7 PRKCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 1 with renal cysts.
Cystic kidney disease v4.7 PRKCSH Achchuthan Shanmugasundram Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v4.6 PRKCSH Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PRKCSH.
Tag Q3_23_NHS_review tag was added to gene: PRKCSH.
Cystic kidney disease v4.6 PRKCSH Achchuthan Shanmugasundram reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 1 with or without kidney cysts, OMIM:174050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 OFD1 Hannah Knight reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35398350, 30895720; Phenotypes: Joubert syndrome 10, 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CAP2.
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Classified gene: CAP2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Gene: cap2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.34 CAP2 Achchuthan Shanmugasundram Phenotypes for gene: CAP2 were changed from Cardiomyopathy, dilated, 2I (MIM#620462) to Cardiomyopathy, dilated, 2I, OMIM:620462
Paediatric or syndromic cardiomyopathy v3.33 CAP2 Achchuthan Shanmugasundram reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I, OMIM:620462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.33 LDB3 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal".; to: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal" and the rating should be updated to green in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.33 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493; dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v3.32 LDB3 Achchuthan Shanmugasundram Publications for gene: LDB3 were set to
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram edited their review of gene: LDB3: Changed publications to: 16427346, 17097056, 36253531; Changed phenotypes to: Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493, dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, there are five unrelated cases reported with biallelic LDB3 variants and lethal paediatric dilated cardiomyopathy in PMID:36253531. It was also reported that these biallelic loss-of-function variants lead to an early-onset and more severe phenotype of cardiomyopathy and myopathy.

Monoallelic variants in LDB3 are associated with dilated cardiomyopathy with or without left ventricular noncompaction in both OMIM (MIM #601493) and Gene2Phenotype (with 'limited' rating in the DD panel). Two unrelated families reported in PMID:16427346, of which twin sisters from a family presented with isolated LVNC shortly after the brith, while male proband from second family was diagnosed at 13 years of age. The six unrelated patients with hypertrophic cardiomyopathy were diagnosed in the third to seventh decades of life.; to: As reviewed by Dmitrijs Rots, there are five unrelated cases reported with biallelic LDB3 variants and lethal paediatric dilated cardiomyopathy in PMID:36253531. It was also reported that these biallelic loss-of-function variants lead to an early-onset and more severe phenotype of cardiomyopathy and myopathy.

Monoallelic variants in LDB3 are associated with dilated cardiomyopathy with or without left ventricular noncompaction in both OMIM (MIM #601493) and Gene2Phenotype (with 'limited' rating in the DD panel). Two unrelated families reported in PMID:16427346, of which twin sisters from a family presented with isolated LVNC shortly after the brith, while male proband from second family was diagnosed at 13 years of age. The six unrelated patients with hypertrophic cardiomyopathy were diagnosed in the third to seventh decades of life (PMID:17097056).
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal".
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: LDB3.
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16427346, 36253531; Phenotypes: dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Deleted their comment
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Deleted their comment
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.17 GPR156 Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss disorder, MONDO:0020678 to sensorineural hearing loss disorder, MONDO:0020678
Monogenic hearing loss v4.17 GPR156 Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss to sensorineural hearing loss disorder, MONDO:0020678
Monogenic hearing loss v4.16 GPR156 Achchuthan Shanmugasundram Publications for gene: GPR156 were set to 36928819
Monogenic hearing loss v4.15 GPR156 Achchuthan Shanmugasundram Publications for gene: GPR156 were set to PMID:36928829
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: GPR156.
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: GPR156.
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928819; Phenotypes: sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.4 KDM6A Hannah Knight reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36672956; Phenotypes: Kabuki syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v3.4 PQBP1 Hannah Knight reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31718390; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.4 RHOA Hannah Knight reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35178721; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 SMG8 Hannah Knight gene: SMG8 was added
gene: SMG8 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 34761517
Phenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome
Review for gene: SMG8 was set to AMBER
Added comment: PMID: 34761517 describe a patient with Alzahrani-Kuwahara syndrome and unilateral microphthalmia.
There is some evidence that SMG9 may cause microphthalmia (PMID: 27018474), and these two genes work together
Sources: Literature
Structural eye disease v3.4 NUP188 Hannah Knight reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 36158057; Phenotypes: Sandestig-Stefanova syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT81 Ronnie Wright reviewed gene: KRT81: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9665406, 9402962; Phenotypes: Monilethrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT83 Ronnie Wright reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15744029, 25557232; Phenotypes: Monilethrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT86 Ronnie Wright gene: KRT86 was added
gene: KRT86 was added to Ectodermal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715
Phenotypes for gene: KRT86 were set to Monilethrix
Penetrance for gene: KRT86 were set to Incomplete
Review for gene: KRT86 was set to GREEN
Added comment: We've had clinician enquiries in North West GLH about Keratin Genes associated with Monilethrix (see also KRT81 and KRT83) not being present in Ectodermal dysplasia panel. It may be worth reviewing the evidence for all 3 of these genes. There are few publications for KRT81 and KRT83 but I think there are sufficient for KRT86 and for all 3 genes the reported variants seem to be consistent with pathogenic enriched regions in Keratin genes (see PER viewer for whole Keratin gene family https://per.broadinstitute.org/).
Sources: NHS GMS
Retinal disorders v4.24 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 26056285, 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 PFKM Achchuthan Shanmugasundram commented on gene: PFKM
Structural eye disease v3.4 GDF3 Hannah Knight reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29260090; Phenotypes: Klippel-Feil Syndrome 3, Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 EPHA2 Hannah Knight reviewed gene: EPHA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35918037; Phenotypes: Bilateral microphthalmia, microcornea, congenital cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple exostoses v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
POLG-related disorder v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
POLG-related disorder v1.0 Sarah Leigh promoted panel to version 1.0
POLG-related disorder v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Phenylketonuria v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Phenylketonuria v1.0 Sarah Leigh promoted panel to version 1.0
Phenylketonuria v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Peutz Jeghers Syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Peutz Jeghers Syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Peutz Jeghers Syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Nijmegen breakage syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Nijmegen breakage syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Nijmegen breakage syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Niemann-Pick disease type A or B v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Niemann-Pick disease type A or B v1.0 Sarah Leigh promoted panel to version 1.0
Niemann-Pick disease type A or B v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Niemann Pick disease type C v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Niemann Pick disease type C v1.0 Sarah Leigh promoted panel to version 1.0
Niemann Pick disease type C v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Krabbe disease - Saposin A deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - Saposin A deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Neutropaenia consistent with ELANE variants v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - Saposin A deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neutropaenia consistent with ELANE variants v1.0 Sarah Leigh promoted panel to version 1.0
Neutropaenia consistent with ELANE variants v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Krabbe disease - GALC deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - GALC deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Neuronal ceroid lipofuscinosis type 2 v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - GALC deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neuronal ceroid lipofuscinosis type 2 v1.0 Sarah Leigh promoted panel to version 1.0
Neuronal ceroid lipofuscinosis type 2 v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Neurofibromatosis type 1 (GMS) v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Neurofibromatosis type 1 (GMS) v1.0 Sarah Leigh promoted panel to version 1.0
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v1.0 Eleanor Williams promoted panel to version 1.0
Neurofibromatosis type 1 (GMS) v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neonatal diabetes - small panel v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Neonatal diabetes - small panel v1.0 Sarah Leigh promoted panel to version 1.0
Neonatal diabetes - small panel v0.4 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v1.0 Eleanor Williams promoted panel to version 1.0
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
NARP syndrome or maternally inherited Leigh syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
NARP syndrome or maternally inherited Leigh syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Inherited parathyroid cancer v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
NARP syndrome or maternally inherited Leigh syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Inherited parathyroid cancer v1.0 Eleanor Williams promoted panel to version 1.0
Inherited parathyroid cancer v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Incontinentia pigmenti v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Incontinentia pigmenti v1.0 Eleanor Williams promoted panel to version 1.0
Incontinentia pigmenti v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Multiple exostoses v1.0 Sarah Leigh promoted panel to version 1.0
Multiple exostoses v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Multiple endocrine neoplasia type 2 v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Multiple endocrine neoplasia type 2 v1.0 Sarah Leigh promoted panel to version 1.0
Multiple endocrine neoplasia type 2 v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Hereditary angioedema types I and II v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Hereditary angioedema types I and II v1.0 Eleanor Williams promoted panel to version 1.0
Hereditary angioedema types I and II v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Wiskott-Aldrich syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor II deficiency v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Wiskott-Aldrich syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Mucopolysaccharidosis type VI v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Wiskott-Aldrich syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor II deficiency v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Mucopolysaccharidosis type VI v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type VI v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Factor II deficiency v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Wilson disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Haemophagocytic syndrome with absent XIAP expression v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Wilson disease v1.0 Mafalda Gomes promoted panel to version 1.0
Wilson disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent XIAP expression v1.0 Eleanor Williams promoted panel to version 1.0
Haemophagocytic syndrome with absent XIAP expression v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
von Willebrand disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Facioscapulohumeral muscular dystrophy - extended testing v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
von Willebrand disease v1.0 Mafalda Gomes promoted panel to version 1.0
von Willebrand disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Facioscapulohumeral muscular dystrophy - extended testing v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Facioscapulohumeral muscular dystrophy - extended testing v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IVA v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Von Hippel Lindau syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Von Hippel Lindau syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Mucopolysaccharidosis type IVA v1.0 Sarah Leigh promoted panel to version 1.0
Von Hippel Lindau syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent perforin expression v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IVA v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent perforin expression v1.0 Eleanor Williams promoted panel to version 1.0
Variegate porphyria v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Haemophagocytic syndrome with absent perforin expression v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Variegate porphyria v1.0 Mafalda Gomes promoted panel to version 1.0
Variegate porphyria v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Fabry disease v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IIIB v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IIIB v1.0 Sarah Leigh promoted panel to version 1.0
Fabry disease v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Mucopolysaccharidosis type IIIB v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Fabry disease v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Tuberous sclerosis v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Tuberous sclerosis v1.0 Mafalda Gomes promoted panel to version 1.0
Tuberous sclerosis v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Elastin-related phenotypes v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Elastin-related phenotypes v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.0 Eleanor Williams promoted panel to version 1.0
Elastin-related phenotypes v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IIIA v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IIIA v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type IIIA v0.4 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Duchenne or Becker muscular dystrophy v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Duchenne or Becker muscular dystrophy v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Duchenne or Becker muscular dystrophy v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Glycogen storage disease V v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Glycogen storage disease V v1.0 Eleanor Williams promoted panel to version 1.0
Mucopolysaccharidosis type II v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Glycogen storage disease V v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type II v1.0 Sarah Leigh promoted panel to version 1.0
DICER1-related cancer predisposition v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type II v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
DICER1-related cancer predisposition v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
DICER1-related cancer predisposition v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Cystinosis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Cystinosis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Cystinosis v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Glucokinase-related fasting hyperglycaemia v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Glucokinase-related fasting hyperglycaemia v1.0 Eleanor Williams promoted panel to version 1.0
Glucokinase-related fasting hyperglycaemia v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Cystic fibrosis - Diagnostic v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Cystic fibrosis - Diagnostic v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Cystic fibrosis - Diagnostic v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Generalised arterial calcification in infancy v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Generalised arterial calcification in infancy v1.0 Eleanor Williams promoted panel to version 1.0
Generalised arterial calcification in infancy v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Congenital adrenal hyperplasia v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Congenital adrenal hyperplasia v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Congenital adrenal hyperplasia v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IH or S v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Gaucher disease v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IH or S v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type IH or S v0.5 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Gaucher disease v1.0 Eleanor Williams promoted panel to version 1.0
Combined vitamin K-dependent clotting factor deficiency v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Gaucher disease v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Combined vitamin K-dependent clotting factor deficiency v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Combined vitamin K-dependent clotting factor deficiency v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Fumarate hydratase-related tumour syndromes v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Fumarate hydratase-related tumour syndromes v1.0 Eleanor Williams promoted panel to version 1.0
Fumarate hydratase-related tumour syndromes v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucolipidosis II and III Alpha or Beta v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mucolipidosis II and III Alpha or Beta v1.0 Sarah Leigh promoted panel to version 1.0
Central congenital hypoventilation v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucolipidosis II and III Alpha or Beta v0.5 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Central congenital hypoventilation v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Central congenital hypoventilation v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Familial tumours of the nervous system v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Monitoring for G(M)CSF escape variants v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Familial tumours of the nervous system v1.0 Eleanor Williams promoted panel to version 1.0
Carney complex v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Carney complex v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Monitoring for G(M)CSF escape variants v1.0 Sarah Leigh promoted panel to version 1.0
Carney complex v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Monitoring for G(M)CSF escape variants v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Familial tumours of the nervous system v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Thiamine metabolism dysfunction syndrome 2 v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Calcium-sensing receptor phenotypes v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Thiamine metabolism dysfunction syndrome 2 v1.0 Mafalda Gomes promoted panel to version 1.0
Thiamine metabolism dysfunction syndrome 2 v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Calcium-sensing receptor phenotypes v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Calcium-sensing receptor phenotypes v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial neurogastrointestinal encephalopathy v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mitochondrial neurogastrointestinal encephalopathy v1.0 Sarah Leigh promoted panel to version 1.0
Mitochondrial neurogastrointestinal encephalopathy v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
CADASIL v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
CADASIL v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
CADASIL v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial Complex V deficiency, TMEM70 type v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Thanatophoric dysplasia v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Familial dysalbuminaemic hyperthyroxinaemia v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mitochondrial Complex V deficiency, TMEM70 type v1.0 Sarah Leigh promoted panel to version 1.0
Blepharophimosis ptosis and epicanthus inversus v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Familial dysalbuminaemic hyperthyroxinaemia v1.0 Eleanor Williams promoted panel to version 1.0
Mitochondrial Complex V deficiency, TMEM70 type v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Blepharophimosis ptosis and epicanthus inversus v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Thanatophoric dysplasia v1.0 Mafalda Gomes promoted panel to version 1.0
Thanatophoric dysplasia v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Blepharophimosis ptosis and epicanthus inversus v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Familial dysalbuminaemic hyperthyroxinaemia v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Beckwith-Wiedemann syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Beckwith-Wiedemann syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Factor XIII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Beckwith-Wiedemann syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor XIII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor XIII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Barth syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Sickle cell, thalassaemia and other haemoglobinopathies v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Sickle cell, thalassaemia and other haemoglobinopathies v1.0 Mafalda Gomes promoted panel to version 1.0
Sickle cell, thalassaemia and other haemoglobinopathies v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Barth syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Barth syndrome v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lysosomal acid lipase deficiency v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Lysosomal acid lipase deficiency v1.0 Sarah Leigh promoted panel to version 1.0
Lysosomal acid lipase deficiency v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
BAP1 associated tumour predisposition syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
BAP1 associated tumour predisposition syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Tay-Sachs disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
BAP1 associated tumour predisposition syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Tay-Sachs disease v1.0 Mafalda Gomes promoted panel to version 1.0
Tay-Sachs disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Syndromic and non syndromic craniosynostosis involving midline sutures v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Autoimmune Polyendocrine Syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Syndromic and non syndromic craniosynostosis involving midline sutures v1.0 Mafalda Gomes promoted panel to version 1.0
Syndromic and non syndromic craniosynostosis involving midline sutures v0.4 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Autoimmune Polyendocrine Syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Autoimmune Polyendocrine Syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lymphoproliferative syndrome with absent SAP expression v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v1.0 Mafalda Gomes promoted panel to version 1.0
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor XI deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Lymphoproliferative syndrome with absent SAP expression v1.0 Sarah Leigh promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Spinal muscular atrophy - Diagnostic v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor XI deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Spinal muscular atrophy - Diagnostic v1.0 Mafalda Gomes promoted panel to version 1.0
Factor XI deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Spinal muscular atrophy - Diagnostic v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Smith-Lemli-Opitz syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Smith-Lemli-Opitz syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Smith-Lemli-Opitz syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor X deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Factor X deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor X deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Sitosterolaemia v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Ataxia telangiectasia - mutation testing v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Sitosterolaemia v1.0 Mafalda Gomes promoted panel to version 1.0
Sitosterolaemia v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Ataxia telangiectasia - mutation testing v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Ataxia telangiectasia - mutation testing v0.9 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lymphoproliferative syndrome with absent SAP expression v0.4 Sarah Leigh Panel version 0.3 has been signed off on 2023-09-14
APC associated Polyposis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Short stature - SHOX deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
APC associated Polyposis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Short stature - SHOX deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Short stature - SHOX deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
APC associated Polyposis v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Severe combined immunodeficiency with PNP deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Severe combined immunodeficiency with PNP deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Severe combined immunodeficiency with PNP deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alveolar capillary dysplasia with misalignment of pulmonary veins v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Severe combined immunodeficiency with adenosine deaminase deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Alveolar capillary dysplasia with misalignment of pulmonary veins v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Severe combined immunodeficiency with adenosine deaminase deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Severe combined immunodeficiency with adenosine deaminase deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alveolar capillary dysplasia with misalignment of pulmonary veins v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor VIII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Segmental or atypical neurofibromatosis type 1 testing v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor VIII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Segmental or atypical neurofibromatosis type 1 testing v1.0 Mafalda Gomes promoted panel to version 1.0
Segmental or atypical neurofibromatosis type 1 testing v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor VIII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Alstrom syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
SCID with features of gamma chain deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Alstrom syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
SCID with features of gamma chain deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
SCID with features of gamma chain deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alstrom syndrome v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Sandhoff disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Sandhoff disease v1.0 Mafalda Gomes promoted panel to version 1.0
Sandhoff disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor VII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Lymphoproliferative syndrome with absent SAP expression v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Retinoblastoma v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor VII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Retinoblastoma v1.0 Mafalda Gomes promoted panel to version 1.0
Retinoblastoma v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Factor VII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Pulmonary alveolar microlithiasis v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Pulmonary alveolar microlithiasis v1.0 Mafalda Gomes promoted panel to version 1.0
Pulmonary alveolar microlithiasis v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor V deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
PTEN Hamartoma Tumor Syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Agammaglobulinaemia with absent BTK expression v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
PTEN Hamartoma Tumor Syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
PTEN Hamartoma Tumor Syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor V deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor V deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Agammaglobulinaemia with absent BTK expression v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Agammaglobulinaemia with absent BTK expression v0.9 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Pseudoxanthoma elasticum v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Pseudoxanthoma elasticum v1.0 Mafalda Gomes promoted panel to version 1.0
Pseudoxanthoma elasticum v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor IX deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Acute intermittent porphyria v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Factor IX deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Primary hyperaldosteronism v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Acute intermittent porphyria v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Factor IX deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Primary hyperaldosteronism v1.0 Mafalda Gomes promoted panel to version 1.0
Primary hyperaldosteronism v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Acute intermittent porphyria v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (4 unrelated cases) for this gene to be promoted to green rating in this panel at the next GMS update.
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram Deleted their review
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.285
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram gene: RAB5C was added
gene: RAB5C was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber
Q3_23_promote_green tags were added to gene: RAB5C.
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.; to: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (12 unrelated cases) for this gene to be promoted to green rating at the next GMS update.
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.284 RAB5C Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: RAB5C.
White matter disorders and cerebral calcification - childhood onset v3.17 ESAM Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM.
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM.
White matter disorders and cerebral calcification - childhood onset v3.17 ESAM Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284
White matter disorders and cerebral calcification - childhood onset v3.17 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature,Expert Review
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM.
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature,Expert Review
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM.
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Intellectual disability v5.284 ESAM Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses.

This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.; to: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine live-born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses.

This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.
Intellectual disability v5.284 ESAM Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
Intellectual disability v5.284 ESAM Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.284 ESAM Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.283 ESAM Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from severe ID; seizures, spasticity to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Intellectual disability v5.282 ESAM Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
Intellectual disability v5.281 ESAM Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ESAM.
Tag Q3_23_NHS_review tag was added to gene: ESAM.
Intellectual disability v5.281 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.98 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.97 PPP1R3F Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.; to: Comment on list classification: There are at least six patients reported with epilepsy and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Early onset or syndromic epilepsy v4.97 PPP1R3F Achchuthan Shanmugasundram changed review comment from: PMID:37531237 - 13 unrelated males were identified with hemizygous variants in PPP1R3F gene and were reported with a novel X-linked recessive neurodevelopmental disorder. Intellectual disability was formally tested in 10 individuals of which 5 had mild ID, two had severe ID, one had moderate ID, one had ID for which severity was not stated and one had no ID.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:37531237 - 13 unrelated males were identified with hemizygous variants in PPP1R3F gene and were reported with a novel X-linked recessive neurodevelopmental disorder. Six of these 13 patients were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Early onset or syndromic epilepsy v4.97 PPP1R3F Achchuthan Shanmugasundram edited their review of gene: PPP1R3F: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.97 PPP1R3F Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.281
Early onset or syndromic epilepsy v4.97 PPP1R3F Achchuthan Shanmugasundram gene: PPP1R3F was added
gene: PPP1R3F was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
Q3_23_promote_green tags were added to gene: PPP1R3F.
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.281 PPP1R3F Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.280 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.279 PPP1R3F Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPP1R3F.
Intellectual disability v5.279 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.280 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.280 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.280 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.279 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.278 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.279 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.278 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Intellectual disability v5.278 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Intellectual disability v5.278 PPP1R3F Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Intellectual disability v5.277 PPP1R3F Achchuthan Shanmugasundram reviewed gene: PPP1R3F: Rating: GREEN; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NR2F2.
Tag Q3_23_NHS_review tag was added to gene: NR2F2.
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.277 NR2F2 Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.276 NR2F2 Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype.

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. Some patients with CHD (MIM #615779) are reported with developmental delays in the OMIM record.

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
Intellectual disability v5.276 NR2F2 Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901).

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype.

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
Intellectual disability v5.276 NR2F2 Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
Intellectual disability v5.276 NR2F2 Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
Intellectual disability v5.276 NR2F2 Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to
Intellectual disability v5.275 NR2F2 Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.275 NR2F2 Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.275 NR2F2 Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.275 NR2F2 Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.274 NR2F2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.274 NR2F2 Achchuthan Shanmugasundram commented on gene: NR2F2: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901).

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
Intellectual disability v5.274 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663647, 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: U2AF2.
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.274
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram gene: U2AF2 was added
gene: U2AF2 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: U2AF2.
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Phenotypes for gene: U2AF2 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: U2AF2.
Tag Q3_23_NHS_review tag was added to gene: U2AF2.
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 33057194
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed publications to: 28135719, 31785789, 33057194, 34112922, 36747105, 37092751, 37134193
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.271 U2AF2 Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31785789, 34112922, 36747105, 37092751, 37134193; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NARP syndrome or maternally inherited Leigh syndrome v0.2 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Dystonia, chorea or related movement disorder, adult onset v3.13 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Retinal disorders v4.24 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Mitochondrial disorders v4.93 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Likely inborn error of metabolism v4.49 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Undiagnosed metabolic disorders v1.600 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Neurodegenerative disorders, adult onset v4.35 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Optic neuropathy v4.11 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Structural basal ganglia disorders v1.38 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v3.1 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Early onset dystonia v1.135 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Infantile nystagmus v1.10 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Mitochondrial disorders v4.93 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Likely inborn error of metabolism v4.49 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Undiagnosed metabolic disorders v1.600 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Hereditary ataxia, adult onset v4.22 RFC1 Sarah Leigh Deleted their comment
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Mitochondrial disorders v4.93 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Likely inborn error of metabolism v4.49 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Undiagnosed metabolic disorders v1.600 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Retinal disorders v4.24 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Mitochondrial disorders v4.93 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Intellectual disability v5.271 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Likely inborn error of metabolism v4.49 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.600 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Optic neuropathy v4.11 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.600 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Mitochondrial disorders v4.93 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Likely inborn error of metabolism v4.49 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Mitochondrial disorders v4.93 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Likely inborn error of metabolism v4.49 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Undiagnosed metabolic disorders v1.600 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Albinism or congenital nystagmus v3.1 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Infantile nystagmus v1.10 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Dystonia, chorea or related movement disorder, adult onset v3.13 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Retinal disorders v4.24 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Mitochondrial disorders v4.93 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Intellectual disability v5.271 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Likely inborn error of metabolism v4.49 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Undiagnosed metabolic disorders v1.600 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Optic neuropathy v4.11 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Structural basal ganglia disorders v1.38 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Mitochondrial disorders v4.93 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Likely inborn error of metabolism v4.49 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Undiagnosed metabolic disorders v1.600 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Albinism or congenital nystagmus v3.1 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Sudden death in young people v1.15 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Infantile nystagmus v1.10 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Mitochondrial disorders v4.93 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Early onset or syndromic epilepsy v4.95 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Likely inborn error of metabolism v4.49 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Undiagnosed metabolic disorders v1.600 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Albinism or congenital nystagmus v3.1 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Infantile nystagmus v1.10 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Acute rhabdomyolysis v1.15 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Mitochondrial disorders v4.93 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Likely inborn error of metabolism v4.49 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Undiagnosed metabolic disorders v1.600 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Rhabdomyolysis and metabolic muscle disorders v3.35 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Structural eye disease v3.4 ARHGAP35 Hannah Knight gene: ARHGAP35 was added
gene: ARHGAP35 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 36450800
Phenotypes for gene: ARHGAP35 were set to Anophthalmia; microphthalmia; coloboma
Review for gene: ARHGAP35 was set to GREEN
Added comment: Novel damaging variants in ARHGAP35 were identified in five individuals with developmental ocular disorders from four families
Family 1 - father and daughter with microphthalmia. c.4251delC p.(Thr1418Argfs*381) shared by both affected individuals. This variant was not present in five unaffected family members: mother, brother, paternal grandmother, and two paternal aunts
Family 2 - simplex case of a boy with corneal opacity with cataract, iris hypoplasia, and glaucoma treated with keratoprostheses. De novo variant identified c.4444delC p.(Gln1482Serfs*317)
Family 3 - simplex case of a boy with bilateral microphthalmia. De novo variant identified c.1849C > T p.(Arg617Ter)
Family 4 - adult male patient with bilateral anophthalmia. Trio exome sequencing identified a novel variant in ARHGAP35, c.4294 T > C p.(Cys1432Arg), inherited from the father, who did not have a MAC phenotype but was reported to wear glasses from a young age with no further details available. Labelled as a VUS
Sources: Literature
Acute rhabdomyolysis v1.15 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Mitochondrial disorders v4.93 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Likely inborn error of metabolism v4.49 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Undiagnosed metabolic disorders v1.600 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Albinism or congenital nystagmus v3.1 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Rhabdomyolysis and metabolic muscle disorders v3.35 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Infantile nystagmus v1.10 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Mitochondrial disorders v4.93 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Likely inborn error of metabolism v4.49 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Undiagnosed metabolic disorders v1.600 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Skeletal muscle channelopathy v3.1 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Paroxysmal central nervous system disorders v3.8 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Skeletal Muscle Channelopathies v1.45 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Structural eye disease v3.4 PDGFRA Hannah Knight gene: PDGFRA was added
gene: PDGFRA was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRA were set to 35034853
Phenotypes for gene: PDGFRA were set to Bilateral chorioretinal coloboma, microphthalmia and global developmental delay
Review for gene: PDGFRA was set to AMBER
Added comment: PMID: 35034853 - patient with bilateral chorioretinal coloboma and microphthalmia as well as global developmental delay with autistic behavior. Heterozygous variant in PDGFRA found - NM_006206.6:c.1295C>T, p.(Thr432Met). Not found in unaffected mother
Knockdown of pdgfaa and pdgfab in zebrafish caused a severe coloboma phenotype
Sources: Literature
Structural eye disease v3.4 CDH4 Hannah Knight gene: CDH4 was added
gene: CDH4 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH4 were set to 35034853
Phenotypes for gene: CDH4 were set to Iris coloboma, intellectual disability, and microcephaly
Review for gene: CDH4 was set to AMBER
Added comment: PMID: 35034853 - patient with an iris coloboma, intellectual disability, and microcephaly. Heterozygous variant in CDH4 found - NM_001794.5:c.1291C>T, p.(Arg431Cys). Not found in unaffected mother
Knockdown of cdh4 in zebrafish led to ocular maldevelopment (as has been previously reported)
Sources: Literature
Hereditary neuropathy or pain disorder v3.56 VWA1 Sarah Leigh Tag STR tag was added to gene: VWA1.
Structural eye disease v3.4 BMPR1B Hannah Knight gene: BMPR1B was added
gene: BMPR1B was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 35034853
Phenotypes for gene: BMPR1B were set to Ocular coloboma
Review for gene: BMPR1B was set to GREEN
Added comment: Four unrelated families with BMPR1B variants reported:
1. Two affected siblings with bilateral optic disc coloboma. Mother confirmed heterozygote - NM_001203.2:c.272G>T, p.(Arg91Ile)
2. Single proband with unilateral right microphthalmia, right dense cataract and persistent hyperplastic primary vitreous. No family history. De novo variant - NM_001203.2:c.1127G>A, p.(Arg376Glu)
3. Patient with bilateral iris and chorioretinal coloboma - c.671G>A, p.(Arg224His)
4. Patient with right iris and bilateral chorioretinal coloboma - c.671G>T, p.(Arg224Leu)
Sources: Literature
Structural eye disease v3.4 ALX1 Hannah Knight reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914578; Phenotypes: Frontonasal Dysplasia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.4 ANK3 Hannah Knight gene: ANK3 was added
gene: ANK3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK3 were set to 35034853
Phenotypes for gene: ANK3 were set to Ocular coloboma
Review for gene: ANK3 was set to AMBER
Added comment: PMID: 35034853 identified two patients with ocular coloboma, each with a different heterozygous missense mutation in ANK3. In one of these families, the variant was confirmed as de novo. In the other, the unaffected mother was confirmed not to carry it.
Knockdown of ank3a and ank3b in zebrafish resulted in microphthalmia and penetrant coloboma phenotype
Sources: Literature
NARP syndrome or maternally inherited Leigh syndrome v0.2 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Dystonia, chorea or related movement disorder, childhood onset v3.48 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary neuropathy or pain disorder v3.56 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Dystonia, chorea or related movement disorder, adult onset v3.13 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Retinal disorders v4.24 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary ataxia, adult onset v4.22 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Mitochondrial disorders v4.93 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Intellectual disability v5.271 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary neuropathy v1.472 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Likely inborn error of metabolism v4.49 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Undiagnosed metabolic disorders v1.600 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Neurodegenerative disorders, adult onset v4.35 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Skeletal muscle channelopathy v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Optic neuropathy v4.11 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Paroxysmal central nervous system disorders v3.8 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Structural basal ganglia disorders v1.38 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Albinism or congenital nystagmus v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary ataxia v1.331 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Ataxia and cerebellar anomalies - childhood onset v4.34 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Skeletal Muscle Channelopathies v1.45 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Infantile nystagmus v1.10 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Wiskott-Aldrich syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Wilson disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
von Willebrand disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Von Hippel Lindau syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Variegate porphyria v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Tuberous sclerosis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Thiamine metabolism dysfunction syndrome 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Thanatophoric dysplasia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sickle cell, thalassaemia and other haemoglobinopathies v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Tay-Sachs disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Syndromic and non syndromic craniosynostosis involving midline sutures v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Spinal muscular atrophy - Diagnostic v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Smith-Lemli-Opitz syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sitosterolaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Short stature - SHOX deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Severe combined immunodeficiency with PNP deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Severe combined immunodeficiency with adenosine deaminase deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Segmental or atypical neurofibromatosis type 1 testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
SCID with features of gamma chain deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sandhoff disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Retinoblastoma v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Pulmonary alveolar microlithiasis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
PTEN Hamartoma Tumor Syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Pseudoxanthoma elasticum v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Primary hyperaldosteronism v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
POLG-related disorder v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Phenylketonuria v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Peutz Jeghers Syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Nijmegen breakage syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Niemann-Pick disease type A or B v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Niemann Pick disease type C v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neutropaenia consistent with ELANE variants v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neuronal ceroid lipofuscinosis type 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neurofibromatosis type 1 (GMS) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neonatal diabetes - small panel v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
NARP syndrome or maternally inherited Leigh syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Multiple exostoses v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Multiple endocrine neoplasia type 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type VI v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IVA v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IIIB v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IIIA v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type II v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IH or S v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucolipidosis II and III Alpha or Beta v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
Monitoring for G(M)CSF escape variants v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mitochondrial neurogastrointestinal encephalopathy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mitochondrial Complex V deficiency, TMEM70 type v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Lysosomal acid lipase deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Lymphoproliferative syndrome with absent SAP expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Krabbe disease - Saposin A deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Krabbe disease - GALC deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Inherited parathyroid cancer v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Incontinentia pigmenti v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Hereditary angioedema types I and II v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Haemophagocytic syndrome with absent XIAP expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Haemophagocytic syndrome with absent perforin expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Glycogen storage disease V v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Glucokinase-related fasting hyperglycaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Generalised arterial calcification in infancy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Gaucher disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Fumarate hydratase-related tumour syndromes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Familial tumours of the nervous system v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Familial dysalbuminaemic hyperthyroxinaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor XIII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor XI deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor X deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor VIII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor VII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor V deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor IX deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor II deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Facioscapulohumeral muscular dystrophy - extended testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Fabry disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Elastin-related phenotypes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Duchenne or Becker muscular dystrophy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
DICER1-related cancer predisposition v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Cystinosis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Cystic fibrosis - Diagnostic v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Congenital adrenal hyperplasia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Combined vitamin K-dependent clotting factor deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Central congenital hypoventilation v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Carney complex v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Calcium-sensing receptor phenotypes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
CADASIL v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Blepharophimosis ptosis and epicanthus inversus v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Beckwith-Wiedemann syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Barth syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
BAP1 associated tumour predisposition syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Autoimmune Polyendocrine Syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Autoimmune lymphoproliferative syndrome with defective apoptosis v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Ataxia telangiectasia - mutation testing v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
APC associated Polyposis v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Alveolar capillary dysplasia with misalignment of pulmonary veins v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Alstrom syndrome v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Agammaglobulinaemia with absent BTK expression v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
Acute intermittent porphyria v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Early onset or syndromic epilepsy v4.95 STARD7 Sarah Leigh Tag STR tag was added to gene: STARD7.
Hereditary ataxia, adult onset v4.22 FGF14_GAA Sarah Leigh Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174 to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Hereditary ataxia, adult onset v4.21 FGF14_GAA Sarah Leigh Publications for STR: FGF14_GAA were set to 36516086; 36493768
Corneal dystrophy v3.5 TCF4 Sarah Leigh Deleted their comment
Corneal dystrophy v3.5 TCF4 Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
Early onset or syndromic epilepsy v4.95 SAMD12 Sarah Leigh Publications for gene: SAMD12 were set to 30194086; 29507423; 29939203; 32203200
Intellectual disability v5.271 PPP1R3F Zornitza Stark gene: PPP1R3F was added
gene: PPP1R3F was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: 13 unrelated hemizygous individuals reported with functional evidence
Sources: Literature
Intellectual disability v5.271 RAB5C Zornitza Stark gene: RAB5C was added
gene: RAB5C was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Review for gene: RAB5C was set to GREEN
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Skeletal dysplasia v4.18 AXIN1 Zornitza Stark gene: AXIN1 was added
gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Ichthyosis and erythrokeratoderma v3.3 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Ichthyosis (MONDO#0019269), DBR1-related
Review for gene: DBR1 was set to AMBER
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Paediatric or syndromic cardiomyopathy v3.30 CAP2 Zornitza Stark gene: CAP2 was added
gene: CAP2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four individuals from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Literature
Gaucher disease v0.1 GBA Eleanor Williams commented on gene: GBA
Barth syndrome v0.1 TAZ Eleanor Williams commented on gene: TAZ
NARP syndrome or maternally inherited Leigh syndrome v0.1 MT-ATP6 Eleanor Williams commented on gene: MT-ATP6
NARP syndrome or maternally inherited Leigh syndrome v0.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
NARP syndrome or maternally inherited Leigh syndrome v0.1 MT-ND6 Eleanor Williams commented on gene: MT-ND6
NARP syndrome or maternally inherited Leigh syndrome v0.1 MT-ND6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND6.
Familial tumours of the nervous system v0.1 DGCR8 Eleanor Williams commented on gene: DGCR8
Familial tumours of the nervous system v0.1 DGCR8 Eleanor Williams Tag gene-checked tag was added to gene: DGCR8.
Primary lymphoedema v3.3 ERG Andrew Mumford gene: ERG was added
gene: ERG was added to Primary lymphoedema. Sources: Research
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ERG were set to primary lymphoedema
Penetrance for gene: ERG were set to Complete
Review for gene: ERG was set to GREEN
Added comment: The association between monoallelic high impact LoF variants in ERG was identified in 4 independent pedigrees in the 100KGP RD main programme and supported by functional evidence of ERG functionality in lymphatic endothelial cells (PMID:36928819)
Sources: Research
Monogenic hearing loss v4.14 GPR156 Andrew Mumford gene: GPR156 was added
gene: GPR156 was added to Monogenic hearing loss. Sources: Research
Mode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR156 were set to PMID:36928829
Phenotypes for gene: GPR156 were set to sensorineural hearing loss
Penetrance for gene: GPR156 were set to Complete
Review for gene: GPR156 was set to GREEN
Added comment: The association between biallelic LoF variants in GPR156 and non-syndromic sensorineural hearing loss was identified in an association analysis in the 100KGP RD main programme in two pedigrees and replicated in a further large independent pedigree (reported in PMID:36928819). A causal association is supported by replication of the phenotype in a GPR156-/- mouse model and credible mechanistic evidence in primary cel cultures (PMID:34001891).
Sources: Research
Thoracic aortic aneurysm or dissection (GMS) v3.1 PMEPA1 Andrew Mumford gene: PMEPA1 was added
gene: PMEPA1 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Research
Mode of inheritance for gene: PMEPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMEPA1 were set to PMID:36928819
Phenotypes for gene: PMEPA1 were set to thoracic aortic aneurysm; tall stature; dolichocephaly; abnormal axial skeletal morphology; pes planus
Penetrance for gene: PMEPA1 were set to Complete
Review for gene: PMEPA1 was set to GREEN
Added comment: Association between chain truncation variants in cytoplasmic domain of PMEPA1 and 'Loeys-Dietz' phenotype was established in an association analysis in 100KGP RD main programme, but reproduced in multiple independent pedigrees reported in PMID:36928819. Gene encodes regulator of TGFBeta signalling, a pathway implicated in other familial thoracic aneurysm disorders.
Sources: Research
Intellectual disability v5.271 NR2F2 Katherine Lachlan reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37500725; Phenotypes: intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, vascular malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.271 ATM Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Dmitrijs Rots reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v4.6 PRKCSH Ian Berry changed review comment from: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.; to: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.

OMIM disorder name is polycystic liver disease-1 with or without kidney cysts (PCLD1)
Cystic kidney disease v4.6 SEC63 Ian Berry changed review comment from: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.; to: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.

OMIM disorder name is polycystic liver disease-2 with or without kidney cysts (PCLD2)
Cystic kidney disease v4.6 SEC63 Ian Berry reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.6 PRKCSH Ian Berry reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.271 ESAM Julia Baptista gene: ESAM was added
gene: ESAM was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to PMID: 36996813
Phenotypes for gene: ESAM were set to severe ID; seizures, spasticity
Review for gene: ESAM was set to GREEN
Added comment: Lecca et al 2023 reported thirteen patients from eight unrelated families with biallelic loss of function variants (nonsense, frameshift, canonical splice site, all predicted to result in a transcript targeted for nonsense-mediated decay). Protein staining assays in one of the brain fetal samples confirmed loss the loss of protein.
The phenotype reported in this cohort is of a severe neurodevelopmental disorder with brain anomalies (calcifications, hydrocephalus, enlarged ventricles, cerebral atrophy, etc), and dysmorphic features.
Sources: Literature, Expert Review
Fetal anomalies v3.109 ESAM Julia Baptista gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to PMID: 36996813
Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies
Review for gene: ESAM was set to GREEN
Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant.
Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features.
Sources: Literature
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to obesity.

The phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOIU should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".; to: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to obesity and this gene can be promoted to green rating at the next major update.

The phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOI should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".
Rhabdomyolysis and metabolic muscle disorders v3.35 AMPD1 Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram Classified gene: ADCY3 as Amber List (moderate evidence)
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants of this gene to obesity.

The phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOIU should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".
Severe early-onset obesity v4.7 ADCY3 Achchuthan Shanmugasundram Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v4.6 ADCY3 Achchuthan Shanmugasundram Phenotypes for gene: ADCY3 were changed from Monogenic severe obesity to Monogenic severe obesity; {Obesity, susceptibility to, BMIQ19}, OMIM:617885
Severe early-onset obesity v4.5 ADCY3 Achchuthan Shanmugasundram changed review comment from: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.; to: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.

Autosomal recessive variants in this gene have been associated with phenotype in OMIM (MIM #617885). But, dominant variants have not yet been associated with relevant phenotypes in OMIM.
Severe early-onset obesity v4.5 ADCY3 Achchuthan Shanmugasundram edited their review of gene: ADCY3: Changed publications to: 29311636, 29311637, 35026759
Severe early-onset obesity v4.5 ADCY3 Achchuthan Shanmugasundram Publications for gene: ADCY3 were set to 2931163; 29311637; 35026759
Severe early-onset obesity v4.4 ADCY3 Achchuthan Shanmugasundram Publications for gene: ADCY3 were set to 29311637; 35026759
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ADCY3.
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram edited their review of gene: ADCY3: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe early-onset obesity v4.3 ADCY3 Achchuthan Shanmugasundram reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2931163, 29311637, 35026759; Phenotypes: {Obesity, susceptibility to, BMIQ19}, OMIM:617885; Mode of inheritance: None
Intellectual disability v5.271 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome; 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Clefting v4.95 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292; Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; Limb-mammary syndrome, 603543; ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3; Cleft lip to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Fetal anomalies v3.109 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Ectodermal dysplasia without a known gene mutation v1.24 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400; Orofac; Adult Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Limb-Mammary Syndrome; Rapp-Hodgkin Syndrome; Split-Hand/foot Malformation 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Ectodermal dysplasia v3.8 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Skeletal dysplasia v4.18 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543; Split-hand/foot malformation 4, OMIM:605289
Limb disorders v4.9 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543; Split-hand/foot malformation 4, OMIM:605289
Skeletal dysplasia v4.17 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; ULT syndrome 103285; Split-hand/foot malformation 4 605289; Limb-mammary syndrome 603543 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543
Limb disorders v4.8 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; Limb-mammary syndrome 603543; Orofacial cleft 8 129400; Rapp-Hodgkin syndrome 129400; Split-hand/foot malformation 4 605289 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543
Mosaic skin disorders - Deep sequencing v2.31 TP63 Arina Puzriakova Tag watchlist tag was added to gene: TP63.
Tag somatic tag was added to gene: TP63.
Mosaic skin disorders - Deep sequencing v2.31 TP63 Arina Puzriakova Classified gene: TP63 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.31 TP63 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). This gene is associated with a number of phenotypes, some of which lead to dermatologic abnormalities. Mosaicism is not common - there is only one paper confirming somatic mosaicism in one individual (PMID: 18792980), plus another case mentioned by Tom Cullup from Kinsler lab. There is also a report of suspected mosaicism (but not confirmed) in a patient due to the Blaschko distributions of hypopigmented patches on their skin and hair loss (PMID: 34703865).

The phenotype fits the scope and this is likely the only panel to pick up somatic cases. However, the evidence supporting somatic mosaicism is borderline. Only one case has been published since 2008, and at least one additional confirmed case is needed to corroborate the association. Leaving rating as Amber with watchlist tag to monitor for additional evidence.
Mosaic skin disorders - Deep sequencing v2.31 TP63 Arina Puzriakova Gene: tp63 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
Intellectual disability v5.270 ERMARD Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
Intellectual disability v5.269 ERMARD Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
Acute rhabdomyolysis v1.15 MYH1 Achchuthan Shanmugasundram Classified gene: MYH1 as Amber List (moderate evidence)
Acute rhabdomyolysis v1.15 MYH1 Achchuthan Shanmugasundram Gene: myh1 has been classified as Amber List (Moderate Evidence).
Acute rhabdomyolysis v1.14 MYH1 Achchuthan Shanmugasundram gene: MYH1 was added
gene: MYH1 was added to Acute rhabdomyolysis. Sources: Literature
Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH1 were set to 33755318
Phenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290
Review for gene: MYH1 was set to AMBER
Added comment: There is one patient identified with homozygous MYH1 variant (c.1295A>C; p.Lys432Thr) and a horse model with the same phenotype. Hence, this gene can be rated amber for now.
Sources: Literature
Rhabdomyolysis and metabolic muscle disorders v3.35 MYH1 Achchuthan Shanmugasundram Classified gene: MYH1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.35 MYH1 Achchuthan Shanmugasundram Gene: myh1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.34 MYH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None
Rhabdomyolysis and metabolic muscle disorders v3.33 MYH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from None to None
Rhabdomyolysis and metabolic muscle disorders v3.33 MYH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Rhabdomyolysis and metabolic muscle disorders v3.32 MYH1 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.31 MYH1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, there is one patient identified with homozygous MYH1 variant and a horse model with the same phenotype. Hence, this gene can be rated amber for now.; to: There is one patient identified with homozygous MYH1 variant (c.1295A>C; p.Lys432Thr) and a horse model with the same phenotype. Hence, this gene can be rated amber for now.
Rhabdomyolysis and metabolic muscle disorders v3.31 MYH1 Achchuthan Shanmugasundram Publications for gene: MYH1 were set to PMID: 33755318
Rhabdomyolysis and metabolic muscle disorders v3.30 MYH1 Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from rhabdomyolysis, MONDO:0005290 to rhabdomyolysis, MONDO:0005290
Rhabdomyolysis and metabolic muscle disorders v3.29 MYH1 Achchuthan Shanmugasundram Phenotypes for gene: MYH1 were changed from Rhabdomyolysis to rhabdomyolysis, MONDO:0005290
Rhabdomyolysis and metabolic muscle disorders v3.28 MYH1 Achchuthan Shanmugasundram reviewed gene: MYH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33755318; Phenotypes: rhabdomyolysis, MONDO:0005290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Classified gene: DIAPH1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating at the next major update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 DIAPH1 Achchuthan Shanmugasundram Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.34 DIAPH1 Achchuthan Shanmugasundram Phenotypes for gene: DIAPH1 were changed from microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632
Primary immunodeficiency or monogenic inflammatory bowel disease v4.33 DIAPH1 Achchuthan Shanmugasundram Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 DIAPH1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DIAPH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 DIAPH1 Achchuthan Shanmugasundram reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33662367; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, OMIM:616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 OTULIN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Boaz Palterer, there is sufficient evidence for the association of monoallelic OTULIN variants to immunodeficiency. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 OTULIN Achchuthan Shanmugasundram Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.31 OTULIN Achchuthan Shanmugasundram Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Fever, diarrhoea, dermatitis; Autoinflammatory Disorders to {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986; Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Primary immunodeficiency or monogenic inflammatory bowel disease v4.30 OTULIN Achchuthan Shanmugasundram Publications for gene: OTULIN were set to 27559085; 27523608
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 OTULIN Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 OTULIN Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986, Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DOCK11.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Classified gene: DOCK11 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.29 DOCK11 Achchuthan Shanmugasundram Gene: dock11 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.28 DOCK11 Achchuthan Shanmugasundram Phenotypes for gene: DOCK11 were changed from early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy to Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Primary immunodeficiency or monogenic inflammatory bowel disease v4.27 DOCK11 Achchuthan Shanmugasundram Publications for gene: DOCK11 were set to 36952639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 DOCK11 Achchuthan Shanmugasundram reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36952639, 37342957; Phenotypes: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ARPC5.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Classified gene: ARPC5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases and supporting functional evidence available for the association of this gene with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.26 ARPC5 Achchuthan Shanmugasundram Gene: arpc5 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.25 ARPC5 Achchuthan Shanmugasundram Phenotypes for gene: ARPC5 were changed from immunodeficiency; autoimmunity; inflammation; dysmorphisms; impaired wound healing; scoliosis; pneumatoceles; anemia to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.24 ARPC5 Achchuthan Shanmugasundram Publications for gene: ARPC5 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ARPC5 Achchuthan Shanmugasundram edited their review of gene: ARPC5: Changed phenotypes to: combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ARPC5 Achchuthan Shanmugasundram reviewed gene: ARPC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37349293, 37382373; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v4.34 DAB1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark, there is only one case reported with cerebellar ataxia and identified with biallelic DAB1 variants. Hence, this gene should remain red in this panel.; to: As reviewed by Zornitza Stark, there is only one case reported with cerebellar ataxia and identified with biallelic DAB1 variants. Hence, this gene should remain red in this panel.

Note that repeat expansions in this gene have an established association with disease (MIM #615945) and it is caused by monoallelic inheritance.
Ataxia and cerebellar anomalies - childhood onset v4.34 DAB1 Achchuthan Shanmugasundram Phenotypes for gene: DAB1 were changed from Spinocerebellar ataxia 37 to cerebellar ataxia, MONDO:0000437
Ataxia and cerebellar anomalies - childhood onset v4.33 DAB1 Achchuthan Shanmugasundram Mode of inheritance for gene: DAB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v4.32 DAB1 Achchuthan Shanmugasundram reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: 33928188; Phenotypes: cerebellar ataxia, MONDO:0000437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - childhood onset v4.32 TRIP4 Achchuthan Shanmugasundram Classified gene: TRIP4 as Red List (low evidence)
Ataxia and cerebellar anomalies - childhood onset v4.32 TRIP4 Achchuthan Shanmugasundram Gene: trip4 has been classified as Red List (Low Evidence).
Ataxia and cerebellar anomalies - childhood onset v4.31 TRIP4 Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: RED; Mode of pathogenicity: None; Publications: 34075209; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.268 U2AF2 Celia Duff-Farrier changed review comment from: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71.
total variants reported
1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA
2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105)
3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193)
4) 9x additional pathogenic or likely pathogenic variants on LOVD
5) 2x additional likely pathogenic variants on ClinVar

References
1.       PubMed: 28135719 McRae (2017)-DDD data
2.       PubMed: 31785789 Turner (2019)-DDD data
3.       PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W
4.       PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del
5.       PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W
Possible emerging phenotype of hypomyelinating leukodystrophy
6.       PubMed: 37134193 Kuroda (2023); to: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71.
total variants/patients identified
1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA
2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105)
3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193)
4) 9x additional pathogenic or likely pathogenic variants on LOVD
5) 2x additional likely pathogenic variants on ClinVar
6) We are collaborating with a researcher in the USA with a cohort of 40+ cases.


References
1.       PubMed: 28135719 McRae (2017)-DDD data
2.       PubMed: 31785789 Turner (2019)-DDD data
3.       PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W
4.       PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del
5.       PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W
Possible emerging phenotype of hypomyelinating leukodystrophy
6.       PubMed: 37134193 Kuroda (2023)
Ataxia and cerebellar anomalies - childhood onset v4.31 RFXANK Achchuthan Shanmugasundram Classified gene: RFXANK as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v4.31 RFXANK Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, this gene should be rated amber with the current evidence.
Ataxia and cerebellar anomalies - childhood onset v4.31 RFXANK Achchuthan Shanmugasundram Gene: rfxank has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v4.30 RFXANK Achchuthan Shanmugasundram reviewed gene: RFXANK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bare lymphocyte syndrome, type II, complementation group B, OMIM:209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.268 U2AF2 Celia Duff-Farrier reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 28135719):(PMID: 31785789):(PMID: 34112922):(PMID: 36747105):(PMID: 37092751):(PMID 37134193); Phenotypes: intellectual disability, global developmental delay, dysmorphism, epilepsy, brain malformation, microcephaly, possible emerging phenotype of hypomyelinating leukodystrophy.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe microcephaly v4.31 ATP6V0C Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP6V0C.
Tag Q3_23_promote_green tag was added to gene: ATP6V0C.
Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
Severe microcephaly v4.31 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Severe microcephaly v4.31 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating in the next GMS review.
Severe microcephaly v4.31 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Severe microcephaly v4.30 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Severe microcephaly v4.29 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 33190975; 33090716
Severe microcephaly v4.28 ATP6V0C Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Intellectual disability v5.268 NEUROG1 Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.266 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NEUROG1.
Tag Q3_23_NHS_review tag was added to gene: NEUROG1.
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Intellectual disability v5.267 NEUROG1 Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850
Intellectual disability v5.266 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.266 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.266 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.266 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.265 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.265 NEUROG1 Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Intellectual disability v5.264 NEUROG1 Achchuthan Shanmugasundram reviewed gene: NEUROG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23419067, 26077850, 33439489, 36647078; Phenotypes: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.93 SLC52A2 Sarah Leigh Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; brown-Vialetto-van Laere syndrome 2, MONDO:0013867
Mitochondrial disorders v4.92 SLC52A2 Sarah Leigh Publications for gene: SLC52A2 were set to
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PLA2G6.
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Classified gene: PLA2G6 as Amber List (moderate evidence)
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.90 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Added comment: Phospholipase A2 group VI (PLA2G6) is located in the mitochondrial membrane, in addition to the cytosol and endoplasmic reticulum (PMID: 32357911). Studies in PLA2G6 variant Drosophilia and PLA2G6 knock-down human fibrocytes suggest that PLA2G6 plays an important role in endolysosomal and mitochondrial function in disease (PMID: 30528460). PLA2G6 variants have been associated with Infantile neuroaxonal dystrophy 1, (OMIM:256600), Neurodegeneration with brain iron accumulation 2B (OMIM:610217) and Parkinson disease 14, autosomal recessive (OMIM:612953)(PMID: 35803092, 16783378, 30528460.; Changed rating: GREEN; Changed publications to: 32357911
Mitochondrial disorders v4.90 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953 to Infantile neuroaxonal dystrophy 1, OMIM:256600; neurodegeneration with brain iron accumulation 2A, MONDO:0024457; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; neurodegeneration with brain iron accumulation 2B, MONDO:0012444; Parkinson disease 14, autosomal recessive, OMIM:612953; autosomal recessive Parkinson disease 14 MONDO:0013060
Mitochondrial disorders v4.89 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to 29903433; 25348461; 26001724; 26506412; 30528460; 16783378
Mitochondrial disorders v4.88 PLA2G6 Sarah Leigh Mode of inheritance for gene: PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh changed review comment from: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.; to: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

This data has been submitted for publication

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh changed review comment from: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :
16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.; to: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh commented on gene: CRELD1: Personal communication from Natalie Trump
There are now a total of 18 affected probands (14 families) with recessive variants in CRELD1 :
16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

1 compound heterozygous for two missense variants (C192Y & A391P)

0 homozygous or compound het for putative null alleles

All 18 probands has epilepsy, hypotonia, speech delay and motor delay.
Breast cancer pertinent cancer susceptibility v2.5 ATRIP Dmitrijs Rots reviewed gene: ATRIP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37592023; Phenotypes: Breast cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematological malignancies cancer susceptibility v4.2 PTPN13 Dmitrijs Rots gene: PTPN13 was added
gene: PTPN13 was added to Haematological malignancies cancer susceptibility. Sources: Literature
Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN13 were set to PMID: 35643866
Phenotypes for gene: PTPN13 were set to bone marrow failure and acute lymphoblastic leukemia
Review for gene: PTPN13 was set to AMBER
Added comment: PMID: 35643866 described two families with biallelic PTPN13 and bone marrow failure and acute lymphoblastic leukemia and some functional evidence. In gnomAD (under variant co-occurence) no rare truncating and strong missense in comp het or homozygous states.
Sources: Literature
Mitochondrial disorders v4.87 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to 29903433
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PITRM1.
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.85 PITRM1 Sarah Leigh commented on gene: PITRM1: The review article "Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration" (PMID:34356897) outlines the role of PITRM1 in normal mitochondrial function, it also presents the published evidence which demonstrates the consequences of variant PITRM1, in humans and functional studies.
Mitochondrial disorders v4.85 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Changed publications to: 33835239, 34356897
Intellectual disability v5.264 CMIP Sarah Leigh reviewed gene: CMIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v5.264 CMIP Sarah Leigh Classified gene: CMIP as Red List (low evidence)
Intellectual disability v5.264 CMIP Sarah Leigh Gene: cmip has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v3.30 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Paediatric or syndromic cardiomyopathy v3.29 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Intellectual disability v5.263 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Fetal anomalies v3.108 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Likely inborn error of metabolism v4.49 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex III deficiency, nuclear type 3 615158; Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex III deficiency
Possible mitochondrial disorder, nuclear genes v3.49 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Undiagnosed metabolic disorders v1.600 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex III deficiency, nuclear type 3 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Mitochondrial disorder with complex III deficiency v2.3 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Mitochondrial disorders v4.85 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Mitochondrial disorders v4.84 UQCRB Arina Puzriakova Publications for gene: UQCRB were set to 12709789; 25446085; 23454382; 28604960
Skeletal dysplasia v4.16 PKDCC Arina Puzriakova Phenotypes for gene: PKDCC were changed from Rhizomelia; dysmorphism to Rhizomelic limb shortening with dysmorphic features, OMIM:618821
Intellectual disability v5.262 CMIP Sarah Leigh Publications for gene: CMIP were set to PMID: 22689534; 28504353
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh Classified gene: CRELD1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.94 CRELD1 Sarah Leigh Gene: creld1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.93 CRELD1 Sarah Leigh Publications for gene: CRELD1 were set to PMID 32437232
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP6V0C.
Tag Q3_23_promote_green tag was added to gene: ATP6V0C.
Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Early onset or syndromic epilepsy v4.92 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.91 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 35600075; 36074901; 37161035
Early onset or syndromic epilepsy v4.90 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Early onset or syndromic epilepsy v4.89 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Early onset or syndromic epilepsy v4.89 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Early onset or syndromic epilepsy v4.89 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Early onset or syndromic epilepsy v4.88 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 33190975; 33090716
Early onset or syndromic epilepsy v4.87 ATP6V0C Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24623842, 33190975, 35600075, 36074901, 37161035; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.87 MAGI2 Zornitza Stark commented on gene: MAGI2: In addition, note the gene-disease relationship to epilepsy has been assessed as DISPUTED by ClinGen.
Early onset or syndromic epilepsy v4.87 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Epilepsy, juvenile myoclonic, susceptibility to, 6}, MIM# 607682, {Epilepsy, idiopathic generalized, susceptibility to, 9}, MIM#607682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.261 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP6V0C.
Tag Q3_23_promote_green tag was added to gene: ATP6V0C.
Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Intellectual disability v5.260 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Intellectual disability v5.259 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
Intellectual disability v5.259 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
Intellectual disability v5.258 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
Intellectual disability v5.258 ATP6V0C Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 33190975; 33090716
Intellectual disability v5.257 ATP6V0C Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 36074901, 37161035
Intellectual disability v5.257 ATP6V0C Achchuthan Shanmugasundram changed review comment from: 17 of 32 total patients had impaired intellectual development.; to: PMID:36074901 - 16 of 27 patients identified with monoallelic ATP6V0C variants, including a patient each from PMID:24623842 and PMID:33190975 had impaired intellectual development, while 21 patients had developmental delay.

PMID:37161035 - One of three patients identified with monoallelic ATP6V0C variant had impaired intellectual development and language delay, while another had developmental delay and speech delay.

This gene has been associated with relevant phenotypes in OMIM (MIM #620465) and Gene2Phenotype (with 'strong' rating in the DD panel).
Intellectual disability v5.257 ATP6V0C Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 35600075, 36074901, 37161035
Intellectual disability v5.257 ATP6V0C Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33190975, 35600075, 36074901, 37161035; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.56 SYT2 Achchuthan Shanmugasundram Classified gene: SYT2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v3.56 SYT2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene to this panel (six unrelated cases and functional studies) and this gene should therefore be promoted to green rating in the next GMS review.
Hereditary neuropathy or pain disorder v3.56 SYT2 Achchuthan Shanmugasundram Gene: syt2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v3.55 SYT2 Achchuthan Shanmugasundram Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040
Hereditary neuropathy or pain disorder v3.54 SYT2 Achchuthan Shanmugasundram Publications for gene: SYT2 were set to 26519543; 30533528
Hereditary neuropathy or pain disorder v3.53 SYT2 Achchuthan Shanmugasundram Mode of inheritance for gene: SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.52 SYT2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SYT2.
Hereditary neuropathy or pain disorder v3.52 SYT2 Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 26519543, 30533528, 33105646, 34037996; Phenotypes: Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, OMIM:616040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Classified gene: DHTKD1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Hereditary neuropathy or pain disorder v3.52 DHTKD1 Achchuthan Shanmugasundram Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v3.51 DHTKD1 Achchuthan Shanmugasundram Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 to ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Hereditary neuropathy or pain disorder v3.50 DHTKD1 Achchuthan Shanmugasundram Publications for gene: DHTKD1 were set to
Hereditary neuropathy or pain disorder v3.49 DHTKD1 Achchuthan Shanmugasundram Mode of inheritance for gene: DHTKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.48 DHTKD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DHTKD1.
Hereditary neuropathy or pain disorder v3.48 DHTKD1 Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141294, 28902413, 29661920, 34571524; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and metabolic muscle disorders v3.28 COQ8A Achchuthan Shanmugasundram Classified gene: COQ8A as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.28 COQ8A Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.28 COQ8A Achchuthan Shanmugasundram Gene: coq8a has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.27 COQ8A Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ8A.
Tag Q3_23_NHS_review tag was added to gene: COQ8A.
Rhabdomyolysis and metabolic muscle disorders v3.27 COQ8A Achchuthan Shanmugasundram gene: COQ8A was added
gene: COQ8A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to 26818466; 22036850; 18319074; 18319072; 32337771
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, OMIM:612016
Review for gene: COQ8A was set to GREEN
Added comment: Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ8A/ADCK3). Variants in COQ8A cause a juvenile-onset cerebellar ataxia with primary CoQ10 deficiency. Some patients display muscle weakness and exercise intolerance (typically with elevated serum lactate) early in the course of disease but it is not clear if this is associated with rhabdomyolysis although this may be plausible following physical exertion.

PMID:32337771 reported a cohort of 59 individuals with 44 pathogenic COQ8A variants and presenting with variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus.
Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.26 MT-CO1 Achchuthan Shanmugasundram Phenotypes for gene: MT-CO1 were changed from Leber hereditary optic neuropathy; Myoglobinuria to Leber hereditary optic neuropathy, MONDO:0010788; myoglobinuria, MONDO:0000866
Rhabdomyolysis and metabolic muscle disorders v3.25 MT-CO1 Achchuthan Shanmugasundram edited their review of gene: MT-CO1: Changed phenotypes to: Leber hereditary optic neuropathy, MONDO:0010788, myoglobinuria, MONDO:0000866
Rhabdomyolysis and metabolic muscle disorders v3.25 MT-CO2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO2.
Tag Q3_23_NHS_review tag was added to gene: MT-CO2.
Rhabdomyolysis and metabolic muscle disorders v3.25 MT-CO2 Achchuthan Shanmugasundram Classified gene: MT-CO2 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.25 MT-CO2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.25 MT-CO2 Achchuthan Shanmugasundram Gene: mt-co2 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.24 MT-CO2 Achchuthan Shanmugasundram gene: MT-CO2 was added
gene: MT-CO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 14733964; 23616164; 25929793; 28521807
Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866
Review for gene: MT-CO2 was set to GREEN
Added comment: Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.23 MT-CO1 Achchuthan Shanmugasundram Classified gene: MT-CO1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.23 MT-CO1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.23 MT-CO1 Achchuthan Shanmugasundram Gene: mt-co1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.22 MT-CO1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MT-CO1.
Tag Q3_23_NHS_review tag was added to gene: MT-CO1.
Rhabdomyolysis and metabolic muscle disorders v3.22 MT-CO1 Achchuthan Shanmugasundram gene: MT-CO1 was added
gene: MT-CO1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 10980727; 25929793
Phenotypes for gene: MT-CO1 were set to Leber hereditary optic neuropathy; Myoglobinuria
Review for gene: MT-CO1 was set to GREEN
Added comment: Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.21 COQ4 Achchuthan Shanmugasundram Classified gene: COQ4 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.21 COQ4 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.21 COQ4 Achchuthan Shanmugasundram Gene: coq4 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.20 COQ4 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: COQ4.
Tag Q3_23_NHS_review tag was added to gene: COQ4.
Rhabdomyolysis and metabolic muscle disorders v3.20 COQ4 Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed publications to: 28472853, 26185144, 25658047
Rhabdomyolysis and metabolic muscle disorders v3.20 COQ4 Achchuthan Shanmugasundram gene: COQ4 was added
gene: COQ4 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Review for gene: COQ4 was set to GREEN
Added comment: Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ4). Literature review revealed only one patient who had displayed lethal rhabdomyolysis but importantly this individual only harboured a single heterozygous c.483 G >C (p.E161D) variant in COQ4 (PMID: 28472853)
Sources: Expert list, Expert Review
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Hereditary ataxia, adult onset v4.20 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Hereditary ataxia, adult onset v4.19 COQ4 Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.47 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism v4.47 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Undiagnosed metabolic disorders v1.599 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Hereditary spastic paraplegia, adult onset v3.17 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Hereditary spastic paraplegia, adult onset v3.16 COQ4 Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Ataxia and cerebellar anomalies - childhood onset v4.30 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Childhood-onset spinocerebellar ataxia; Adult-onset ataxia-spasticity spectrum disease; Hereditary spastic paraparesis, MONDO:0019064; Cerebellar ataxia, MONDO:0000437 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Ataxia and cerebellar anomalies - childhood onset v4.29 COQ4 Achchuthan Shanmugasundram edited their review of gene: COQ4: Changed phenotypes to: Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Acute rhabdomyolysis v1.13 PHKB Achchuthan Shanmugasundram Classified gene: PHKB as Green List (high evidence)
Acute rhabdomyolysis v1.13 PHKB Achchuthan Shanmugasundram Added comment: Comment on list classification: PHKB gene was demoted to Red in 'Rhabdomyolysis and metabolic muscle disorders' panel (https://panelapp.genomicsengland.co.uk/panels/66/gene/PHKB/) in agreement with the NHS Genomic Medicine Service. Hence, we propose that this gene should be reviewed for demotion to red in this panel.
Acute rhabdomyolysis v1.13 PHKB Achchuthan Shanmugasundram Gene: phkb has been classified as Green List (High Evidence).
Acute rhabdomyolysis v1.12 PHKB Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: PHKB.
Tag Q3_23_demote_red tag was added to gene: PHKB.
Acute rhabdomyolysis v1.12 PHKB Achchuthan Shanmugasundram reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v3.48 COX11 Hannah Knight reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: None; Publications: 36030551; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.48 COX5A Hannah Knight reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35246835; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.19 CHKB Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.; to: Comment on list classification: This gene is proposed for promotion to green rating as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.19 OBSCN Achchuthan Shanmugasundram Phenotypes for gene: OBSCN were changed from {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
Rhabdomyolysis and metabolic muscle disorders v3.19 OBSCN Achchuthan Shanmugasundram Phenotypes for gene: OBSCN were changed from to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Tag watchlist was removed from gene: OBSCN.
Tag Q3_23_promote_green tag was added to gene: OBSCN.
Tag Q3_23_NHS_review tag was added to gene: OBSCN.
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Deleted their comment
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Classified gene: OBSCN as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Gene: obscn has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Classified gene: OBSCN as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.18 OBSCN Achchuthan Shanmugasundram Gene: obscn has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.17 OBSCN Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.16 OBSCN Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.16 OBSCN Achchuthan Shanmugasundram Mode of inheritance for gene: OBSCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.15 OBSCN Achchuthan Shanmugasundram Publications for gene: OBSCN were set to 18477606
Rhabdomyolysis and metabolic muscle disorders v3.14 OBSCN Achchuthan Shanmugasundram reviewed gene: OBSCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34957489; Phenotypes: {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Deleted their comment
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Classified gene: FLAD1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Gene: flad1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Classified gene: FLAD1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.14 FLAD1 Achchuthan Shanmugasundram Gene: flad1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.13 FLAD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: FLAD1.
Tag Q3_23_NHS_review tag was added to gene: FLAD1.
Rhabdomyolysis and metabolic muscle disorders v3.13 FLAD1 Achchuthan Shanmugasundram gene: FLAD1 was added
gene: FLAD1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100
Review for gene: FLAD1 was set to GREEN
Added comment: FLAD1 gene encodes flavin adenine dinucleotide synthetase enzyme and it has been associated with lipid storage myopathy in OMIM (MIM #255100).

This gene also has green rating in Rhabdomyolysis and Metabolic Myopathy panel from PanelApp Australia (https://panelapp.agha.umccr.org/panels/3084/gene/FLAD1/) based on the evidence of more than 10 families reported in literature.
Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.12 DGUOK Achchuthan Shanmugasundram Classified gene: DGUOK as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.12 DGUOK Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.12 DGUOK Achchuthan Shanmugasundram Gene: dguok has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.11 DGUOK Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DGUOK.
Tag Q3_23_NHS_review tag was added to gene: DGUOK.
Rhabdomyolysis and metabolic muscle disorders v3.11 DGUOK Achchuthan Shanmugasundram gene: DGUOK was added
gene: DGUOK was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
Review for gene: DGUOK was set to GREEN
Added comment: DGUOK gene encodes mitochondrial deoxyguanosine kinase enzyme. This gene is associated with relevant phebnotypes in OMIM (MIMs #251880 & #617070). Mitochondrial myopathy and muscle weaknesses are recorded as clinical manifestations of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (MIM #617070) in OMIM.
Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.10 CHKB Achchuthan Shanmugasundram Classified gene: CHKB as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.10 CHKB Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.10 CHKB Achchuthan Shanmugasundram Gene: chkb has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.9 CHKB Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CHKB.
Tag Q3_23_NHS_review tag was added to gene: CHKB.
Rhabdomyolysis and metabolic muscle disorders v3.9 CHKB Achchuthan Shanmugasundram gene: CHKB was added
gene: CHKB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 37011121
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, OMIM:602541
Review for gene: CHKB was set to GREEN
Added comment: CHKB encodes choline kinase beta enzyme and it has been associated with congenital muscular dystrophy in OMIM (MIM #602541).

PMID:37011121 - 44 cases with biallelic CHKB variants had congenital muscular dystrophy and 3 cases had limb-girdle muscular dystrophy. Of these 3 cases with LGMD, two had presented with adolescent- or adult-onset rhabdomyolysis.
Sources: Expert list, Expert Review
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Classified gene: AMPD1 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.
Rhabdomyolysis and metabolic muscle disorders v3.8 AMPD1 Achchuthan Shanmugasundram Gene: ampd1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v2.30 TEK Arina Puzriakova Phenotypes for gene: TEK were changed from Venous malformations, multiple cutaneous and mucosal, 600195 to Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Unifocal and multifocal sporadic venous malformations; Blue rubber bleb naevus
Mosaic skin disorders - Deep sequencing v2.29 TEK Arina Puzriakova Publications for gene: TEK were set to 27519652
Rhabdomyolysis and metabolic muscle disorders v3.7 AMPD1 Achchuthan Shanmugasundram reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy due to myoadenylate deaminase deficiency, OMIM:615511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mosaic skin disorders - Deep sequencing v2.28 TEK Arina Puzriakova Mode of pathogenicity for gene: TEK was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - Deep sequencing v2.27 TEK Arina Puzriakova Tag somatic tag was added to gene: TEK.
Tag Q3_23_promote_green tag was added to gene: TEK.
Tag Q3_23_NHS_review tag was added to gene: TEK.
Mosaic skin disorders - Deep sequencing v2.27 TEK Arina Puzriakova Classified gene: TEK as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.27 TEK Arina Puzriakova Added comment: Comment on list classification: Multiple cases of sporadic vascular malformations due to cutaneous mosaicism of a TEK variant (PMID: 19079259; 30677207; 34850385; 35460567; 35740480; 36924216). Different variants reported but the L914F substitution is most common and as are double variants found in cis. Somatic variants may not be picked up via other panels for the phenotype (R326) and therefore this gene should be promoted to Green at then next GMS panel update.
Mosaic skin disorders - Deep sequencing v2.27 TEK Arina Puzriakova Gene: tek has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.48 MRM2 Hannah Knight reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36002240; Phenotypes: ?Mitochondrial DNA depletion syndrome 17; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.48 PTCD3 Hannah Knight reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36450274; Phenotypes: Combined oxidative phosphorylation deficiency 51; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.87 CRELD1 Sarah Leigh Phenotypes for gene: CRELD1 were changed from Developmental epileptic encephalopathy; intractable seizures; global developmental delay and cognitive delay; treatment resistant epileptic seizures; adrenal insufficiency; severe bilateral neural hearing loss; immature eye development; acute respiratory distress; submucosal cleft palate to Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217; {Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217; atrioventricular septal defect, susceptibility to, 2, MONDO:0011650
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Tag Q3_23_promote_green tag was added to gene: HMGCR.
Tag Q3_23_MOI tag was added to gene: HMGCR.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh edited their review of gene: HMGCR: Added comment: HMGCR variants have been associated with Muscular dystrophy, limb-girdle, autosomal recessive 28 (OMIM:620375), but with a phenotype in Gen2Phen. PMIDs 37167966; 36745799 report seven HMGCR variants in four unrelated cases. Segregation of the variants and the condition was seen all of the families and in vitro studies revealed that the variant protein had a reduced activity (PMID: 36745799).; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Classified gene: HMGCR as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Gene: hmgcr has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.21 HMGCR Sarah Leigh Phenotypes for gene: HMGCR were changed from Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy to Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375
Mosaic skin disorders - Deep sequencing v2.26 PTCH1 Arina Puzriakova Publications for gene: PTCH1 were set to
Mosaic skin disorders - Deep sequencing v2.25 PTCH1 Arina Puzriakova Classified gene: PTCH1 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.25 PTCH1 Arina Puzriakova Added comment: Comment on list classification: New gene on this panel added by Tom Cullup (GOSH). Multiple cases have been reported where linear and segmental basal cell carcinomas developed due to cutaneous mosaicism of a heterozygous variant in the PTCH1 gene (PMID: 23746055; 27658957; 30520020; 32298489; 35235545; 36002246). These variants may not be picked up via other panels for the phenotype and therefore this gene should be promoted to Green at then next GMS panel update.
Mosaic skin disorders - Deep sequencing v2.25 PTCH1 Arina Puzriakova Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.48 ATP5E Hannah Knight reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.82 ATP5B Hannah Knight reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 36239646, 36860166; Phenotypes: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder, nuclear genes v3.48 ATP5B Hannah Knight reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 36239646, 36860166; Phenotypes: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v2.24 PTCH1 Arina Puzriakova Tag mosaicism tag was added to gene: PTCH1.
Tag somatic tag was added to gene: PTCH1.
Mosaic skin disorders - Deep sequencing v2.24 PTCH1 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PTCH1.
Tag Q3_23_NHS_review tag was added to gene: PTCH1.
Mosaic skin disorders - Deep sequencing v2.24 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome / basal cell naevus syndrome to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh edited their review of gene: PIK3CA: Added comment: Somatic PIK3CA variants are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538. At least three somatic PIK3CA variants have been reported (PMID: 34496175).; Changed rating: RED
Genodermatoses with malignancies v1.10 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400; Basal cell carcinoma, somatic, 605462; Holoprosencephaly-7, 610828; Nevoid Basal Cell Carcinoma Syndrome (aka Gorlin syndrome); Basal Cell Nevus Syndrome (aka Gorlin syndrome); Basal cell nevus syndrome; Nevoid Basal Cell Carcinoma Syndrome; (originally on Gorlin syndrome gene panel) to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome
Childhood solid tumours v4.7 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Adult solid tumours for rare disease v1.37 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome, BCC to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Adult solid tumours cancer susceptibility v2.25 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome, BCC to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Childhood solid tumours cancer susceptibility v1.25 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Bilateral congenital or childhood onset cataracts v4.3 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME to Basal cell nevus syndrome 1, OMIM:109400
Childhood solid tumours v4.6 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from 109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Intellectual disability v5.257 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400Basal cell carcinoma, somatic, 605462Holoprosencephaly-7, 610828; HOLOPROSENCEPHALY-7 to Holoprosencephaly 7, OMIM:610828
Early onset or syndromic epilepsy v4.86 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400; Holoprosencephaly 7, 610828; Basal cell carcinoma, somatic, 605462 to Holoprosencephaly 7, OMIM:610828
Clefting v4.94 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME; BCNS, HOLOPROSENCEPHALY 7; HPE7 to Holoprosencephaly 7, OMIM:610828; Basal cell nevus syndrome 1, OMIM:109400
Fetal anomalies v3.107 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, OMIM:610828
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh Added comment: Comment on mode of inheritance: Somatic PIK3CA variant are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538.
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Holoprosencephaly v4.2 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828 to Holoprosencephaly 7, OMIM:610828
Pituitary hormone deficiency v3.2 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (610828) to Holoprosencephaly 7, OMIM:610828
Cerebral vascular malformations v3.4 PIK3CA Sarah Leigh Tag somatic tag was added to gene: PIK3CA.
Cerebral vascular malformations v3.4 PIK3CA Sarah Leigh Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 ; Cerebral Malformation Disorders; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic to Cerebral cavernous malformations 4, somatic, OMIM:619538
Cerebral vascular malformations v3.3 PIK3CA Sarah Leigh Publications for gene: PIK3CA were set to
Cerebral vascular malformations v3.2 PIK3CA Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Parkinson Disease and Complex Parkinsonism v1.120 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 23913003
Dystonia, chorea or related movement disorder, childhood onset v3.48 PDGFB Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.; Changed rating: GREEN
Parkinson Disease and Complex Parkinsonism v1.119 PDGFB Sarah Leigh Classified gene: PDGFB as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.119 PDGFB Sarah Leigh Gene: pdgfb has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Deleted their comment
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483), which includes Parkinsonism. No phenotype has been associated with PDGFB in Gen2Phen. PMID: 23913003 reports three unrelated cases of OMIM:615483 who have Parkinsonism, and PMID: 35747618 notes Parkinsonism in the proband's paternal grandmother and great grandmother, however, no genetic analysis was possible for these deceased family members.; Changed rating: GREEN
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Classified gene: PDGFB as Amber List (moderate evidence)
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Parkinson Disease and Complex Parkinsonism v1.118 PDGFB Sarah Leigh Gene: pdgfb has been classified as Amber List (Moderate Evidence).
Parkinson Disease and Complex Parkinsonism v1.117 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, MIM# 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
Dystonia, chorea or related movement disorder, childhood onset v3.48 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, OMIM:615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
Dystonia, chorea or related movement disorder, childhood onset v3.47 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140; 35747618
Dystonia, chorea or related movement disorder, childhood onset v3.46 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140
Dystonia, chorea or related movement disorder, childhood onset v3.45 PDGFB Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Dystonia, chorea or related movement disorder, childhood onset v3.44 PDGFB Sarah Leigh Deleted their comment
Dystonia, chorea or related movement disorder, childhood onset v3.44 PDGFB Sarah Leigh Added comment: Comment on publications: ;23913003;30952898;30609140
Dystonia, chorea or related movement disorder, childhood onset v3.44 PDGFB Sarah Leigh Publications for gene: PDGFB were set to 26129893
Dystonia, chorea or related movement disorder, childhood onset v3.43 OCLN Sarah Leigh Tag Q3_23_expert_review tag was added to gene: OCLN.
Tag Q3_23_demote_red tag was added to gene: OCLN.
Dystonia, chorea or related movement disorder, childhood onset v3.43 OCLN Sarah Leigh edited their review of gene: OCLN: Added comment: It would appear that there are no published reports of dystonia, chorea or related movement disorder in cases carrying OCLN variants (PMID:20727516;34704946;34573918;28386946).; Changed rating: RED; Changed publications to: 20727516, 34704946, 34573918, 28386946
Dystonia, chorea or related movement disorder, childhood onset v3.43 OCLN Sarah Leigh Classified gene: OCLN as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.43 OCLN Sarah Leigh Added comment: Comment on list classification: To date, there are no reports of dystonia, chorea or other movement disorders associated with OCLN variants (PMID: 20727516;34704946;34573918;28386946). Therefore this gene should not be green on this panel.
Dystonia, chorea or related movement disorder, childhood onset v3.43 OCLN Sarah Leigh Gene: ocln has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.42 KCNQ2 Sarah Leigh Classified gene: KCNQ2 as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.42 KCNQ2 Sarah Leigh Added comment: Comment on list classification: There is only one case (PMID:12742592), of dystonia in a patient carrying a KCNQ2 variant. To date, there are no reports of relevant chorea or other movement disorders associated with KCNQ2 variants (PMID: 22275249;22926866;23621294;31418850;35780567;33794528). Therefore this gene should not be green on this panel.
Dystonia, chorea or related movement disorder, childhood onset v3.42 KCNQ2 Sarah Leigh Gene: kcnq2 has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.41 KCNQ2 Sarah Leigh Tag Q3_23_expert_review tag was added to gene: KCNQ2.
Dystonia, chorea or related movement disorder, childhood onset v3.41 KCNQ2 Sarah Leigh Tag Q3_23_demote_red tag was added to gene: KCNQ2.
Dystonia, chorea or related movement disorder, childhood onset v3.41 KCNQ2 Sarah Leigh reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dystonia, chorea or related movement disorder, childhood onset v3.41 KCNQ2 Sarah Leigh Publications for gene: KCNQ2 were set to 12742592
Dystonia, chorea or related movement disorder, childhood onset v3.40 KCNQ2 Sarah Leigh Phenotypes for gene: KCNQ2 were changed from Myokymia, 121200; Dystonia to Developmental and epileptic encephalopathy 7, OMIM:613720; developmental and epileptic encephalopathy, 7, MONDO:0013387; Myokymia, OMIM:121200; Seizures, benign neonatal, 1, OMIM:121200; seizures, benign familial neonatal, 1, MONDO:0007365
Dystonia, chorea or related movement disorder, childhood onset v3.39 KCNQ2 Sarah Leigh Publications for gene: KCNQ2 were set to
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh Tag gene-checked was removed from gene: HPDL.
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh Deleted their comment
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh edited their review of gene: HPDL: Added comment: Biallelic HPDL variants have been associated with Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (OMIM:619026) and Spastic paraplegia 83, autosomal recessive (OMIM:619027) in OMIM and as a Strong gene for HPDL Neurodegenerative Disease in Gen2Phen.
PMIDs 32707086 and 33188300 report white matter changes in 16/28 individuals from 9/18 families where MRI assessments were available.; Changed rating: GREEN
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh Classified gene: HPDL as Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be Green at the next major review.
White matter disorders and cerebral calcification - childhood onset v3.16 HPDL Sarah Leigh Gene: hpdl has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - childhood onset v3.15 HPDL Sarah Leigh Entity copied from Severe microcephaly v4.28
White matter disorders and cerebral calcification - childhood onset v3.15 HPDL Sarah Leigh gene: HPDL was added
gene: HPDL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Green
gene-checked tags were added to gene: HPDL.
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086; 33188300
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Hereditary spastic paraplegia, childhood onset v4.18 HPDL Sarah Leigh Deleted their comment
Hereditary spastic paraplegia, childhood onset v4.18 HPDL Sarah Leigh Deleted their comment
Monogenic hearing loss v4.14 GOSR2 Achchuthan Shanmugasundram gene: GOSR2 was added
gene: GOSR2 was added to Monogenic hearing loss. Sources: Literature
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 37074134
Phenotypes for gene: GOSR2 were set to hearing loss, autosomal recessive, MONDO:0019588
Review for gene: GOSR2 was set to RED
Added comment: Four children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant appeared once in the gnomAD database, as a heterozygote, and not in any of ~2000 in-house controls of Palestinian ancestry.

All previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).
Sources: Literature
Intellectual disability v5.256 NEUROG1 Julia Baptista gene: NEUROG1 was added
gene: NEUROG1 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850
Phenotypes for gene: NEUROG1 were set to developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex
Review for gene: NEUROG1 was set to GREEN
Added comment: Five affected individuals from four independently reported families (Middle Eastern, Portuguese, Indian and Turkish backgrounds) with biallelic microdeletion, missense, nonsense or frameshift variants.

Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking, sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII was reported. Developmental delay, poor speech, autistic behavior and dysmorphic facial features were also present.
Sources: Literature
Severe microcephaly v4.28 ATP6V0C Julia Baptista reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.256 ATP6V0C Julia Baptista reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.85 ATP6V0C Julia Baptista reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 HMGCR Julia Baptista gene: HMGCR was added
gene: HMGCR was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Expert Review,Literature
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to 37167966; 36745799
Phenotypes for gene: HMGCR were set to Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy
Review for gene: HMGCR was set to GREEN
Added comment: Several families reported and OMIM entry now available.

Morales-Rosado et al. (2023) reported 9 patients from 5 unrelated families with LGMDR28. Symptoms included hypotonia, delayed motor milestones, and axial and neck muscle weakness. Progressive proximal muscle weakness of the upper and lower limbs, waddling gait, muscle atrophy, and increased serum creatine kinase were also described. Biallelic pathogenic variants identified by exome sequencing including missense, in-frame deletion and splice site.

Yogev et al (2023) reported 6 affected members of a large consanguineous Bedouin kindred with LGMDR28. In vitro functional studies of the missense variant supported a partial loss of function effect.
Sources: Expert Review, Literature
Cytopenia - NOT Fanconi anaemia v3.2 RAP1B Hannah Knight reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451551; Phenotypes: Syndromic thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v3.2 TCIRG1 Hannah Knight gene: TCIRG1 was added
gene: TCIRG1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCIRG1 were set to 24753205
Phenotypes for gene: TCIRG1 were set to Congenital neutropenia
Penetrance for gene: TCIRG1 were set to unknown
Review for gene: TCIRG1 was set to AMBER
Added comment: A specific, novel variant in TCIRG1 (R736S) identified as the probable cause for SCN in a large multigenerational family through exome sequencing (Makaryan et al. 2014 - PMID 24753205)
In 2022, a new family identified in Taiwan to have a variant affecting the same amino acid (R736C) - https://doi.org/10.1182/blood-2022-159214
Sources: Literature
Stickler syndrome v4.1 LRP2 Dmitrijs Rots reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v4.15 UBA2 Tracy Lester reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder, nuclear genes v3.48 QARS Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: QARS.
Possible mitochondrial disorder, nuclear genes v3.48 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.48 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: QARS encodes t-RNA synthetase and it should be included in this panel with green rating in line with other t-RNA synthetases.
Possible mitochondrial disorder, nuclear genes v3.48 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.47 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Possible mitochondrial disorder, nuclear genes v3.46 QARS Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.256 DNAH14 Sarah Leigh Publications for gene: DNAH14 were set to 35438214
Intellectual disability v5.256 DNAH14 Sarah Leigh Classified gene: DNAH14 as Red List (low evidence)
Intellectual disability v5.256 DNAH14 Sarah Leigh Gene: dnah14 has been classified as Red List (Low Evidence).
Intellectual disability v5.255 DNAH14 Sarah Leigh reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: 26036949, 30125339, 26636390, 32848021; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.; to: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.81 QARS Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: QARS.
Mitochondrial disorders v4.81 QARS Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mitochondrial disorders v4.80 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Mitochondrial disorders v4.79 QARS Achchuthan Shanmugasundram Mode of inheritance for gene: QARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.78 QARS Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.48 SPTAN1 Sarah Leigh Added comment: Comment on mode of inheritance: Three unrelated cases have been reported with biallelic SPTAN1 variants (PMID: 31515523 & 34526651) . Neuropathy or pain was not part of the complex phenotypes that was seen in these cases.
Hereditary neuropathy or pain disorder v3.48 SPTAN1 Sarah Leigh Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia, childhood onset v4.18 SPTAN1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, the age of onset of these cases were 33, 15 and 12 years (PMID:31515523; PMID:34526651). As the number of childhood-onset biallelic cases are not sufficient for green rating, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Hereditary spastic paraplegia, childhood onset v4.18 SPTAN1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia, adult onset v4.19 SPTAN1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, they do not present with ataxia (PMID:31515523; PMID:34526651). Hence, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Hereditary ataxia, adult onset v4.19 SPTAN1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - childhood onset v4.29 SPTAN1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, they do not present with ataxia (PMID:31515523; PMID:34526651). Hence, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Ataxia and cerebellar anomalies - childhood onset v4.29 SPTAN1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.7 LRP6 Mafalda Gomes Publications for gene: LRP6 were set to
Ectodermal dysplasia v3.6 LRP6 Mafalda Gomes Deleted their comment
Ectodermal dysplasia v3.6 LRP6 Mafalda Gomes edited their review of gene: LRP6: Added comment: Massink et al. (2015) report the first association between LRP6 and oligodontia. LRP6 is a major component of the Wnt receptor complex in the canonical Wnt pathway. Other genes involved in this pathway, such as WNT10A, have been shown to be associated with oligodontia as well.
4 unrelated individuals with nonsyndromic oligodontia (12-20 missing teeth each) are reported: 3 carry heterozygous truncating variants in the LRP6 gene, and 1 carries a missense variant (p.Ala19Val) of a conserved residue located at the cleavage site of the protein's signal peptide. Functional studies showed that the missense variant results in altered glycosylation and improper subcellular localisation of the protein, resulting in abrogated activation of the Wnt pathway. Segregation studies confirmed presence of the variants in 6 additional affected family members across the 3 families with truncating variants. Incomplete penetrance was observed in the family of the individual with the missense variant, where the mother was found to be a carrier and is unaffected.
Lastly, an affected father and 2 daughters showed minor anatomical variation of the ear and underdevelopment of the thumb. No other anomalies described in the cohort.
Ockeloen et al. (2016) report 2 additional probands with oligodontia, one of which also had orofacial cleft, and perform a study among 67 patients with tooth agenesis, 1,073 patients with orofacial clefts, and 706 controls. They found significant enrichment of LRP6 rare variants in patients with tooth agenesis, but not in patients with nonsyndromic orofacial clefts. Five variants were identified in patients with tooth agenesis and shown to segregate in the 4 families (1 variant was de novo). Immunochemistry studies on embryonic mice showed that the gene is expressed in areas of bone formation, including the tooth follicle, suggesting a role in early tooth development.
Therefore, this gene should be promoted GREEN in this panel.; Changed rating: GREEN; Changed phenotypes to: Tooth agenesis, selective, 7, OMIM:616724
Ectodermal dysplasia v3.6 LRP6 Mafalda Gomes Phenotypes for gene: LRP6 were changed from to Tooth agenesis, selective, 7, OMIM:616724
Ectodermal dysplasia v3.5 LRP6 Mafalda Gomes Classified gene: LRP6 as Amber List (moderate evidence)
Ectodermal dysplasia v3.5 LRP6 Mafalda Gomes Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Ectodermal dysplasia v3.4 LRP6 Mafalda Gomes Tag Q3_23_promote_green tag was added to gene: LRP6.
Ectodermal dysplasia v3.4 LRP6 Mafalda Gomes reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26387593, 26963285; Phenotypes: Tooth agenesis, selective, 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v3.4 LRP6 Mafalda Gomes gene: LRP6 was added
gene: LRP6 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Penetrance for gene: LRP6 were set to Incomplete
Intellectual disability v5.255 FAM111A Tracy Lester reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: 23684011, 37023242; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 11479594; 12510040; 25778941; 28863176
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Possible mitochondrial disorder, nuclear genes v3.46 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to
Possible mitochondrial disorder, nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram edited their review of gene: PANK2: Changed publications to: 11479594, 12510040, 25778941, 28863176
Possible mitochondrial disorder, nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to green rating in the next major update.
Possible mitochondrial disorder, nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.44 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PANK2.
Possible mitochondrial disorder, nuclear genes v3.44 PANK2 Achchuthan Shanmugasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 11479594, 12510040, 28863176, 25778941; Phenotypes: HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PANK2.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram commented on gene: PANK2: This gene has been associated with relevant phenotypes in both OMIM (MIMs #607236 & #234200) and in Gene2Phenotype (HARP syndrome with 'definitive' rating in the eye panel).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 to HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.73 PANK2 Achchuthan Shanmugasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.255 CMIP Tord Jonson edited their review of gene: CMIP: Changed phenotypes to: HP:0012759 Neurodevelopmental abnormality, HP:0000717 Autism, HP:0007018 Attention deficit hyperactivity disorder, HP:0001250 Seizure, HP:0011471 Gastrostomy tube feeding in infancy
Intellectual disability v5.255 CMIP Tord Jonson changed review comment from: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.
Sources: Other; to: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.
Intellectual disability v5.255 CMIP Tord Jonson gene: CMIP was added
gene: CMIP was added to Intellectual disability - microarray and sequencing. Sources: Other
Mode of inheritance for gene: CMIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CMIP were set to PMID: 22689534; 28504353
Phenotypes for gene: CMIP were set to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471
Penetrance for gene: CMIP were set to unknown
Review for gene: CMIP was set to GREEN
gene: CMIP was marked as current diagnostic
Added comment: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.
Sources: Other
Hereditary neuropathy or pain disorder v3.47 SPTAN1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SPTAN1.
Hereditary neuropathy or pain disorder v3.47 SPTAN1 Sarah Leigh edited their review of gene: SPTAN1: Added comment: SPTAN1 variants have been associated with Developmental and epileptic encephalopathy 5 (OMIM:613477) and as definitive Gen2Phen gene for the same condition.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v3.47 SPTAN1 Sarah Leigh Classified gene: SPTAN1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v3.47 SPTAN1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Hereditary neuropathy or pain disorder v3.47 SPTAN1 Sarah Leigh Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia, adult onset v4.18 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Fetal anomalies v3.106 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Hereditary spastic paraplegia, adult onset v3.16 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Hereditary spastic paraplegia, childhood onset v4.17 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Ataxia and cerebellar anomalies - childhood onset v4.28 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Hereditary neuropathy or pain disorder v3.46 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Bleeding and platelet disorders v3.2 BLOC1S5 Hannah Knight reviewed gene: BLOC1S5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34685610, 34058075; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v3.8 RHOBTB2 Sarah Leigh edited their review of gene: RHOBTB2: Added comment: RHOBTB2 variant have been associated with Developmental and epileptic encephalopathy 64 (OMIM:618004) and as strong Gen2Phen gene for the same condition. PMID: 29276004 reports five RHOBTB2 variants in unrelated cases of OMIM:618004. The authors also present supportive functional studies.; Changed rating: GREEN; Changed publications to: 29276004
Paroxysmal central nervous system disorders v3.8 RHOBTB2 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: RHOBTB2.
Tag Q3_23_MOI tag was added to gene: RHOBTB2.
Paroxysmal central nervous system disorders v3.8 RHOBTB2 Sarah Leigh Phenotypes for gene: RHOBTB2 were changed from Developmental and epileptic encephalopathy 64 618004; Alternating hemiplegia to Developmental and epileptic encephalopathy 64, OMIM:618004; developmental and epileptic encephalopathy, 64, MONDO:0033373
Paroxysmal central nervous system disorders v3.7 RHOBTB2 Sarah Leigh Classified gene: RHOBTB2 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v3.7 RHOBTB2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Paroxysmal central nervous system disorders v3.7 RHOBTB2 Sarah Leigh Gene: rhobtb2 has been classified as Amber List (Moderate Evidence).
Paroxysmal central nervous system disorders v3.6 ALPK1 Sarah Leigh changed review comment from: ALPK1 variants have been associated with ROSAH syndrome (OMIM:614979) and as strong Gen2Phen gene for the same condition. To date, 20 patients from 12 unrelated families carry NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)(PMID: 30967659; 31939038; 35868845) and one case negative for this variant carried: ALPK1(NM_025144.4):c.761A>G (p.Tyr254Cys)(PMID: 35868845). These variants are in the ligand binding domain of ALPK1 and have a gain-of-function action, resulting in enhanced NF-κB activation in transfected cells and fibroblasts from patients with ROSAH syndrome (PMID: 35868845)..; to: ALPK1 variants have been associated with ROSAH syndrome (OMIM:614979) and as strong Gen2Phen gene for the same condition. To date, 20 patients from 12 unrelated families carry NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)(PMID: 30967659; 31939038; 35868845) and one case negative for this variant carried: ALPK1(NM_025144.4):c.761A>G (p.Tyr254Cys)(PMID: 35868845). These variants are in the ligand binding domain of ALPK1 and have a gain-of-function action, resulting in enhanced NF-κB activation in transfected cells and fibroblasts from patients with ROSAH syndrome (PMID: 35868845).
Paroxysmal central nervous system disorders v3.6 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31939038; 35868845
Optic neuropathy v4.11 ALPK1 Sarah Leigh reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v4.24 ALPK1 Sarah Leigh reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v3.5 ALPK1 Sarah Leigh edited their review of gene: ALPK1: Added comment: ALPK1 variants have been associated with ROSAH syndrome (OMIM:614979) and as strong Gen2Phen gene for the same condition. To date, 20 patients from 12 unrelated families carry NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)(PMID: 30967659; 31939038; 35868845) and one case negative for this variant carried: ALPK1(NM_025144.4):c.761A>G (p.Tyr254Cys)(PMID: 35868845). These variants are in the ligand binding domain of ALPK1 and have a gain-of-function action, resulting in enhanced NF-κB activation in transfected cells and fibroblasts from patients with ROSAH syndrome (PMID: 35868845)..; Changed rating: GREEN
Paroxysmal central nervous system disorders v3.5 ALPK1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALPK1.
Tag Q3_23_MOI tag was added to gene: ALPK1.
Paroxysmal central nervous system disorders v3.5 ALPK1 Sarah Leigh Classified gene: ALPK1 as Amber List (moderate evidence)
Paroxysmal central nervous system disorders v3.5 ALPK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Paroxysmal central nervous system disorders v3.5 ALPK1 Sarah Leigh Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.24 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31939038; 31053777; 34159509
Optic neuropathy v4.11 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31053777; 31939038; 34159509
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 35868845
Paroxysmal central nervous system disorders v3.4 ALPK1 Sarah Leigh Phenotypes for gene: ALPK1 were changed from ROSAH syndrome to ROSAH syndrome, OMIM:614979; optic nerve edema-splenomegaly syndrome, MONDO:0013999
Paroxysmal central nervous system disorders v3.3 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 30967659; 31939038
Paroxysmal central nervous system disorders v3.2 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to PMID: 30967659
Intellectual disability v5.255 PABPC1 Sarah Leigh Tag Q3_23_phenotype tag was added to gene: PABPC1.
Early onset or syndromic epilepsy v4.85 PABPC1 Sarah Leigh edited their review of gene: PABPC1: Added comment: PABPC1 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35511136 reports four de novo PABPC1 variants in four unrelated cases with a phenotype of global DD, movement coordination disorders,
seizures, behavioral disorders and mild facial dysmorphisms. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed.
Molecular modeling of the variants suggested that they would result in a reduced binding affinity to the messenger RNA metabolism-related protein - PAIP2. This predicted effect was seen in coimmunoprecipitation assays between variant PABPC1 and PAIP2 (PMID: 35511136). Further functional studies in PMID: 35511136, showed that the proliferation of neural progenitor cells in Pabpc1 knockdown mouse embryo brains were decreased, this effect was rescued by the wild-type Pabpc1, but not by the variants c.1691A>G (p.Glu564Gly) or c.1709T>C (p.Ile570Thr).
Other variants were identified in 3/4 cases in PMID: 35511136, two of these had a ACMG VUS classification (RBBP4: c.845A>G, p.(Asn282Ser), IGF2R: c.1850G>A p.Cys617Tyr), while the third variant was monoallelic, whereas bialleic variants in this gene are associated with disease (KDM5B: c.2265dupA, p.(Tyr755*))(PMID: 35511136, table 1).; Changed rating: GREEN
Intellectual disability v5.255 PABPC1 Sarah Leigh edited their review of gene: PABPC1: Added comment: PABPC1 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35511136 reports four de novo PABPC1 variants in four unrelated cases with a phenotype of global DD, movement coordination disorders,
seizures, behavioral disorders and mild facial dysmorphisms. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed.
Molecular modeling of the variants suggested that they would result in a reduced binding affinity to the messenger RNA metabolism-related protein - PAIP2. This predicted effect was seen in coimmunoprecipitation assays between variant PABPC1 and PAIP2 (PMID: 35511136). Further functional studies in PMID: 35511136, showed that the proliferation of neural progenitor cells in Pabpc1 knockdown mouse embryo brains were decreased, this effect was rescued by the wild-type Pabpc1, but not by the variants c.1691A>G (p.Glu564Gly) or c.1709T>C (p.Ile570Thr).
Other variants were identified in 3/4 cases in PMID: 35511136, two of these had a ACMG VUS classification (RBBP4: c.845A>G, p.(Asn282Ser), IGF2R: c.1850G>A p.Cys617Tyr), while the third variant was monoallelic, whereas bialleic variants in this gene are associated with disease (KDM5B: c.2265dupA, p.(Tyr755*))(PMID: 35511136, table 1).; Changed rating: GREEN
Intellectual disability v5.255 PABPC1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PABPC1.
Tag Q3_23_MOI tag was added to gene: PABPC1.
Early onset or syndromic epilepsy v4.85 PABPC1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PABPC1.
Tag Q3_23_MOI tag was added to gene: PABPC1.
Intellectual disability v5.255 PABPC1 Sarah Leigh Classified gene: PABPC1 as Amber List (moderate evidence)
Intellectual disability v5.255 PABPC1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability v5.255 PABPC1 Sarah Leigh Gene: pabpc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.85 PABPC1 Sarah Leigh Classified gene: PABPC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.85 PABPC1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v4.85 PABPC1 Sarah Leigh Gene: pabpc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Classified gene: OXCT1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available, this gene can be promoted to green rating in this panel in the next major update.
Possible mitochondrial disorder, nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.43 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were set to
Possible mitochondrial disorder, nuclear genes v3.42 OXCT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: OXCT1.
Possible mitochondrial disorder, nuclear genes v3.42 OXCT1 Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8751852, 10964512, 11757586, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:24505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: OXCT1.
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Classified gene: OXCT1 as Amber List (moderate evidence)
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (at least three unrelated cases and functional evidence) in support of the association of this gene to Succinyl CoA:3-oxoacid CoA transferase deficiency (a mitochondrial enzyme).

In addition, this gene has been associated with this phenotype in both OMIM (MIM #245050) and Gene2Phenotype ('definitive' rating in the DD panel.

This gene can therefore be promoted to green rating in the next GMS update.
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.72 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were set to
Mitochondrial disorders v4.71 OXCT1 Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8751852, 10964512, 11757586, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting v4.93 TBL1XR1 Achchuthan Shanmugasundram Classified gene: TBL1XR1 as Amber List (moderate evidence)
Clefting v4.93 TBL1XR1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although three patients are reported with clefting in total, this represents a small fraction of total cases with monoallelic TBL1XR1 variants. Hence, this gene should be rated amber.
Clefting v4.93 TBL1XR1 Achchuthan Shanmugasundram Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence).
Clefting v4.92 TBL1XR1 Achchuthan Shanmugasundram gene: TBL1XR1 was added
gene: TBL1XR1 was added to Clefting. Sources: Literature
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBL1XR1 were set to 28687524; 37010288
Phenotypes for gene: TBL1XR1 were set to Pierpont syndrome, OMIM:602342
Review for gene: TBL1XR1 was set to AMBER
Added comment: PMID:28687524 - A seven year-old boy reported with severe developmental delays, hypotonia and dysmorphic features and identified with a de novo heterozygous variant (p.Tyr446Cys) in TBL1XR1 gene had submucous cleft palate.

DECIPHER database - One of 34 patients with heterozygous sequence variants in TBL1XR1 gene in DECIPHER database had orofacial cleft and another patient had unilateral cleft lip and palate.
Sources: Literature
Clefting v4.91 CDK13 Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature; to: Clefting was reported only in a minor proportion of patients with monoallelic CDK13 variants.

PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature
Clefting v4.91 CDK13 Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature; to: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature
Clefting v4.91 CDK13 Achchuthan Shanmugasundram gene: CDK13 was added
gene: CDK13 was added to Clefting. Sources: Literature
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK13 were set to 29222009; 37010288
Review for gene: CDK13 was set to RED
Added comment: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature
Clefting v4.90 NEB Achchuthan Shanmugasundram changed review comment from: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father.

PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate.

PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T).

DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula.
Sources: Literature; to: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father.

PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate.

PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T).

DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula.

Cleft palate has been associated as one of the clinical presentations of Arthrogryposis multiplex congenita 6 (MIM #619334) in OMIM.
Sources: Literature
Clefting v4.90 NEB Achchuthan Shanmugasundram Publications for gene: NEB were set to 12207937; 21798101; 33376055
Clefting v4.89 NEB Achchuthan Shanmugasundram edited their review of gene: NEB: Changed publications to: 12207937, 21798101, 33376055, 37010288
Clefting v4.89 ECEL1 Achchuthan Shanmugasundram Classified gene: ECEL1 as Amber List (moderate evidence)
Clefting v4.89 ECEL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three cases reported with clefting, it is only present in a small subsection (<10%) of patients with ECEL1 biallelic variants. Hence, this gene should be rated amber.
Clefting v4.89 ECEL1 Achchuthan Shanmugasundram Gene: ecel1 has been classified as Amber List (Moderate Evidence).
Clefting v4.88 NEB Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in some families .; to: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in at least one family with clefting.
Clefting v4.88 NEB Achchuthan Shanmugasundram Classified gene: NEB as Amber List (moderate evidence)
Clefting v4.88 NEB Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in some families .
Clefting v4.88 NEB Achchuthan Shanmugasundram Gene: neb has been classified as Amber List (Moderate Evidence).
Clefting v4.87 NEB Achchuthan Shanmugasundram gene: NEB was added
gene: NEB was added to Clefting. Sources: Literature
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 12207937; 21798101; 33376055
Phenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6, OMIM:619334
Review for gene: NEB was set to AMBER
Added comment: PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father.

PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate.

PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T).

DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula.
Sources: Literature
Clefting v4.86 ECEL1 Achchuthan Shanmugasundram changed review comment from: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed only three patients from a total of 34 had cleft palate (9%).

DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate.

This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder.
Sources: Literature; to: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed that only three patients from a total of 34 patients with biallelic ECEL1 variants had cleft palate (9%).

DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate.

This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder.
Sources: Literature
Clefting v4.86 ECEL1 Achchuthan Shanmugasundram gene: ECEL1 was added
gene: ECEL1 was added to Clefting. Sources: Literature
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECEL1 were set to 30131190; 37010288
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, OMIM:615065
Review for gene: ECEL1 was set to AMBER
Added comment: PMID:3013119 - Seven individuals from four unrelated families were reported with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D and were identified with biallelic variants in ECEL1 gene. Of these two individuals from two different families presented with cleft palate. However, literature review in this publication showed only three patients from a total of 34 had cleft palate (9%).

DECIPHER database - The only patient reported in DECIPHER with compound heterozygous sequence variants in ECEL1 gene had cleft soft palate.

This gene was associated with distal arthrogryposis in both OMIM (MIM #615065) and Gene2Phenotype ('definitive' rating in the DD panel). OMIM recorded cleft palate as one of the clinical manifestations affecting some patients with this disorder.
Sources: Literature
Short stature - SHOX deficiency v0.1 SHOX Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Barth syndrome v0.1 TAZ Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TAZ.
Gaucher disease v0.1 GBA Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GBA.
Clefting v4.85 CDKL5 Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: Of 16 patients with sequence variants in CDKL5 in the DECIPHER database (https://www.deciphergenomics.org/), one of them had median cleft palate and another one had orofacial cleft.
Sources: Literature
Clefting v4.85 CDKL5 Achchuthan Shanmugasundram gene: CDKL5 was added
gene: CDKL5 was added to Clefting. Sources: Literature
Mode of inheritance for gene: CDKL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKL5 were set to 37010288
Review for gene: CDKL5 was set to RED
Added comment: Sources: Literature
Clefting v4.83 CSNK2A1 Achchuthan Shanmugasundram gene: CSNK2A1 was added
gene: CSNK2A1 was added to Clefting. Sources: Literature
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK2A1 were set to 37010288
Review for gene: CSNK2A1 was set to RED
Added comment: Of 21 patients with sequence variants in CSNK2A1 gene in the DECIPHER database (https://www.deciphergenomics.org/), two of them had cleft palate.
Sources: Literature
Clefting v4.82 SOX5 Achchuthan Shanmugasundram gene: SOX5 was added
gene: SOX5 was added to Clefting. Sources: Literature
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX5 were set to 37010288
Review for gene: SOX5 was set to RED
Added comment: Of 19 patients with sequence variants in SOX5 gene in the DECIPHER database (https://www.deciphergenomics.org/), one had cleft palate and another one had bifid uvula/ submucous cleft hard palate.
Sources: Literature
Clefting v4.81 WDR26 Achchuthan Shanmugasundram gene: WDR26 was added
gene: WDR26 was added to Clefting. Sources: Literature
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR26 were set to 37010288
Review for gene: WDR26 was set to RED
Added comment: Of 15 patients with sequence variants in WDR26 in the DECIPHER database (https://www.deciphergenomics.org/), two of them had (median) cleft palate.
Sources: Literature
Mitochondrial disorders v4.71 MRPS23 Achchuthan Shanmugasundram reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v3.12 GIPC1 Sarah Leigh Classified gene: GIPC1 as Red List (low evidence)
Distal myopathies v3.12 GIPC1 Sarah Leigh Added comment: Comment on list classification: This gene will remain red as it is only the GIPC1_GGC expansion that has been associated with disease.
Distal myopathies v3.12 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence).
Distal myopathies v3.11 GIPC1 Sarah Leigh reviewed gene: GIPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v3.11 GIPC1 Sarah Leigh Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy 2, OMIM:618940 to Oculopharyngodistal myopathy 2, OMIM:618940; oculopharyngodistal myopathy 2, MONDO:0030134
Distal myopathies v3.10 GIPC1 Sarah Leigh Tag STR tag was added to gene: GIPC1.
Distal myopathies v3.10 GIPC1 Sarah Leigh Classified gene: GIPC1 as Red List (low evidence)
Distal myopathies v3.10 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence).
Distal myopathies v3.9 GIPC1 Sarah Leigh Classified gene: GIPC1 as Amber List (moderate evidence)
Distal myopathies v3.9 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.8 SMPX Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SMPX.
Tag Q3_23_MOI tag was added to gene: SMPX.
Distal myopathies v3.8 SMPX Sarah Leigh edited their review of gene: SMPX: Added comment: Hemizygous variants in SMPX have been associated with Myopathy, distal, 7, adult-onset, X-linked (OMIM:301075), but not been associated with phenotype in Gen2Phen. PMID: 33974137 reports four SMPX variants in seven families without shared haplotypes. In vitro studies suggested a gain-of-function action of these variants, resulting a protein that was less soluble compared to wildtype, which in some cases had a tendency to aggregate.; Changed rating: GREEN
Dystonia, chorea or related movement disorder, childhood onset v3.38 L2HGDH Achchuthan Shanmugasundram changed review comment from: PMID:15824270 - A 15 year-old boy with L-2-hydroxyglutaric aciduria was reported with early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy.

PMID:18780161 - Of seven patients from three unrelated Tunisian families with L-2-hydroxyglutaric aciduria and with homozygous variants in L2HGDH gene, three patients from two different families had dystonia.

PMID:24753671 - Two siblings were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid.; to: PMID:15824270 - A 15 year-old boy with L-2-hydroxyglutaric aciduria was reported with early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy.

PMID:18780161 - Of seven patients from three unrelated Tunisian families with L-2-hydroxyglutaric aciduria and with homozygous variants in L2HGDH gene, three patients from two different families had dystonia. The age of onset of the disorder in these patients is around six years.

PMID:24753671 - Two siblings (13 and 16 years of age with disease onset at 10 years of age) were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid.
Dystonia, chorea or related movement disorder, childhood onset v3.38 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated children with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Dystonia, chorea or related movement disorder, childhood onset v3.38 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with childhood-onset dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Distal myopathies v3.8 SMPX Sarah Leigh Phenotypes for gene: SMPX were changed from Distal myopathy to Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075; myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
Distal myopathies v3.7 SMPX Sarah Leigh Publications for gene: SMPX were set to PMID: 33974137
Distal myopathies v3.6 SMPX Sarah Leigh Classified gene: SMPX as Amber List (moderate evidence)
Distal myopathies v3.6 SMPX Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Distal myopathies v3.6 SMPX Sarah Leigh Gene: smpx has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v4.15 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800 to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Likely inborn error of metabolism v4.46 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Dystonia, chorea or related movement disorder, childhood onset v3.38 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Undiagnosed metabolic disorders v1.598 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Ductal plate malformation v1.27 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (263800) to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Renal tubulopathies v4.14 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Dystonia, chorea or related movement disorder, childhood onset v3.37 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism v4.45 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Ductal plate malformation v1.26 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Renal tubulopathies v4.14 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Renal tubulopathies v4.13 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Dystonia, chorea or related movement disorder, childhood onset v3.37 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Dystonia, chorea or related movement disorder, childhood onset v3.37 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Likely inborn error of metabolism v4.45 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to 27604308
Likely inborn error of metabolism v4.44 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Undiagnosed metabolic disorders v1.597 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to 27604308
Ductal plate malformation v1.26 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Renal tubulopathies v4.13 SLC12A3 Sarah Leigh commented on gene: SLC12A3
Dystonia, chorea or related movement disorder, childhood onset v3.36 SLC12A3 Sarah Leigh commented on gene: SLC12A3
Likely inborn error of metabolism v4.44 SLC12A3 Sarah Leigh commented on gene: SLC12A3: Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Undiagnosed metabolic disorders v1.596 SLC12A3 Sarah Leigh commented on gene: SLC12A3: Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Ductal plate malformation v1.25 SLC12A3 Sarah Leigh commented on gene: SLC12A3
Undiagnosed metabolic disorders v1.596 SLC12A3 Sarah Leigh Tag monogenic - polygenic tag was added to gene: SLC12A3.
Neonatal diabetes - small panel v0.2 Achchuthan Shanmugasundram List of related panels changed from R143 to R143; Neonatal diabetes
Ductal plate malformation v1.25 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Mucopolysaccharidosis type IH or S v0.3 Achchuthan Shanmugasundram List of related panels changed from R277 to R277; Mucopolysaccharidosis type IH/S
Mucolipidosis II and III Alpha or Beta v0.3 Achchuthan Shanmugasundram List of related panels changed from R289 to R289; Mucolipidosis II and III Alpha/Beta
Renal tubulopathies v4.13 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Fetal anomalies v3.105 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Nephrocalcinosis or nephrolithiasis v4.9 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Renal tubulopathies v4.13 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to 8640224; 30999883; 32506365; 26770037; 27103762; 8640224; 9355073; 28095294; 32506365
Monogenic nephrogenic diabetes insipidus v1.11 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Renal tubulopathies v4.12 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Nephrocalcinosis or nephrolithiasis v4.9 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Monogenic nephrogenic diabetes insipidus v1.11 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Renal tubulopathies v4.12 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Bartter syndrome, type 1, 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Nephrocalcinosis or nephrolithiasis v4.9 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios; Hyperprostagladinuria; Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Antenatal Bartter Syndrome; Bartter syndrome, type 1, 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Monogenic nephrogenic diabetes insipidus v1.11 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis; associated with Barter syndrome and secondary inherited NDI only to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Renal tubulopathies v4.11 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to 8640224; 30999883; 32506365; 26770037; 27103762
Fetal anomalies v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Nephrocalcinosis or nephrolithiasis v4.8 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to PMID: 21631963; 21189980; 20219833; 19513753; 19096086; 18830715; 17998760; 16807401
Monogenic nephrogenic diabetes insipidus v1.10 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to 28095294; 32506365
Monogenic nephrogenic diabetes insipidus v1.9 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to 28095294
Renal tubulopathies v4.10 CLCNKA Sarah Leigh Classified gene: CLCNKA as Red List (low evidence)
Renal tubulopathies v4.10 CLCNKA Sarah Leigh Gene: clcnka has been classified as Red List (Low Evidence).
Renal tubulopathies v4.9 CLCNKA Sarah Leigh Classified gene: CLCNKA as Red List (low evidence)
Renal tubulopathies v4.9 CLCNKA Sarah Leigh Added comment: Comment on list classification: The rating of this gene is being changed to Red from Amber, to reflect that GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Renal tubulopathies v4.9 CLCNKA Sarah Leigh Gene: clcnka has been classified as Red List (Low Evidence).
Intellectual disability v5.254 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, 613090; Infantile Bartter syndrome with sensorineural deafness, intellectual disability to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Renal tubulopathies v4.8 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, OMIM:613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
DDG2P v3.10 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from BARTTER SYNDROME TYPE 4B 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Nephrocalcinosis or nephrolithiasis v4.7 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Intellectual disability v5.253 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to
Intellectual disability v5.253 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Intellectual disability v5.253 CLCNKA Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from to Other
Nephrocalcinosis or nephrolithiasis v4.6 CLCNKA Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.9 CLCNKA Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Renal tubulopathies v4.7 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Renal tubulopathies v4.7 CLCNKA Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Renal tubulopathies v4.6 CLCNKA Sarah Leigh Tag polygenic tag was added to gene: CLCNKA.
Renal tubulopathies v4.6 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to 18310267; 32488762
DDG2P v3.9 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to
Nephrocalcinosis or nephrolithiasis v4.6 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to 15044642; 18310267
DDG2P v3.8 CLCNKA Sarah Leigh Tag polygenic tag was added to gene: CLCNKA.
DDG2P v3.8 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.8 CLCNKA Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.5 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Nephrocalcinosis or nephrolithiasis v4.5 CLCNKA Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Nephrocalcinosis or nephrolithiasis v4.4 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to
Nephrocalcinosis or nephrolithiasis v4.3 CLCNKA Sarah Leigh Tag polygenic tag was added to gene: CLCNKA.
Dystonia, chorea or related movement disorder, childhood onset v3.36 SLC18A2 Achchuthan Shanmugasundram Classified gene: SLC18A2 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.36 SLC18A2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (at least four unrelated cases and functional evidence) available for the association of this gene to movement disorders including dystonia. Hence, this gene can be promoted to green rating at the next GMS review.
Dystonia, chorea or related movement disorder, childhood onset v3.36 SLC18A2 Achchuthan Shanmugasundram Gene: slc18a2 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.35 SLC18A2 Achchuthan Shanmugasundram Phenotypes for gene: SLC18A2 were changed from Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency to ?Parkinsonism-dystonia, infantile, 2, OMIM:618049
Dystonia, chorea or related movement disorder, childhood onset v3.34 SLC18A2 Achchuthan Shanmugasundram Publications for gene: SLC18A2 were set to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308
Dystonia, chorea or related movement disorder, childhood onset v3.33 SLC18A2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SLC18A2.
Dystonia, chorea or related movement disorder, childhood onset v3.33 SLC18A2 Achchuthan Shanmugasundram changed review comment from: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action.

PMID:26497564 - Two male siblings from a consanguineous fancy was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His).; to: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action.

PMID:26497564 - Two male siblings from a consanguineous family was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His).

PMID:31240161 - A child from a consanguineous family presented with hypotonia, mental disability, epilepsy, uncontrolled movements, and gastrointestinal problems and was identified with a homozygous SLC18A2 variant (p.Pro316Ala).

PMID:34078222 - A 6-month-old male infant who presented with developmental delay and suspected cerebral palsy was also diagnosed with infantile parkinsonism-dystonia-2 and was identified with the homozygous variant (p.Pro237His) reported in PMID:26497564.

This gene has been associated with relevant phenotypes in OMIM (PMID:618049), but not in Gene2Phenotype.
Dystonia, chorea or related movement disorder, childhood onset v3.33 SLC18A2 Achchuthan Shanmugasundram commented on gene: SLC18A2: PMID:23363473 - Eight children from an extended consanguineous Saudi Arabian family had a complex neurological disorder apparent since infancy. This disorder is characterised by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. They were identified with a homozygous SLC18A2 variant (p.Pro387Leu). Functional evaluation showed that protein harbouring this variant has dramatically reduced activity than wild type protein, suggesting severe, but not complete loss of function as mechanism of action.

PMID:26497564 - Two male siblings from a consanguineous fancy was reported with a disorder comprising truncal hypotonia, a general paucity of movements, extrapyramidal signs and cognitive delay. They were identified with a homozygous SLC18A2 variant (p.Pro237His).
Early onset or syndromic epilepsy v4.84 TMEM63B Annalisa Vetro reviewed gene: TMEM63B: Rating: ; Mode of pathogenicity: None; Publications: 37421948; Phenotypes: abnormal myelination, developmental and epileptic encephalopathy, hemolytic anemia, infantile spasms; Mode of inheritance: None
Renal tubulopathies v4.5 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Renal tubulopathies v4.5 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v4.4 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Intellectual disability v5.252 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Intellectual disability v5.252 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.251 CLCNKB Sarah Leigh Tag digenic was removed from gene: CLCNKB.
Tag monogenic-polygenic tag was added to gene: CLCNKB.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v1.25 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Ductal plate malformation v1.25 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.3 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), this phenotype is not relevant to this panel and the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Nephrocalcinosis or nephrolithiasis v4.3 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ductal plate malformation v1.24 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Tag Q3_23_MOI tag was added to gene: CLCNKB.
Ductal plate malformation v1.24 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 120550, 9326936, 15717167; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v3.33 SLC18A2 Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473, 26497564, 31240161, 34078222; Phenotypes: ?Parkinsonism-dystonia, infantile, 2, OMIM:618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v3.33 TBC1D24 Achchuthan Shanmugasundram Classified gene: TBC1D24 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.33 TBC1D24 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases reported with dystonia as a feature of the overall phenotype. Hence, this gene can be promoted to green rating at the next major update.
Dystonia, chorea or related movement disorder, childhood onset v3.33 TBC1D24 Achchuthan Shanmugasundram Gene: tbc1d24 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.32 TBC1D24 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D24 were changed from Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 to Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105; Developmental and epileptic encephalopathy 16, OMIM:615338
Dystonia, chorea or related movement disorder, childhood onset v3.31 TBC1D24 Achchuthan Shanmugasundram Publications for gene: TBC1D24 were set to 31257402
Dystonia, chorea or related movement disorder, childhood onset v3.30 TBC1D24 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TBC1D24.
Dystonia, chorea or related movement disorder, childhood onset v3.30 TBC1D24 Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21087195, 23343562, 31257402; Phenotypes: Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105, Developmental and epileptic encephalopathy 16, OMIM:615338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v3.30 SYT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update.; to: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of Baker-Gordon syndrome. Hence, this gene should be promoted to green rating at the next major update.
Dystonia, chorea or related movement disorder, childhood onset v3.30 SYT1 Achchuthan Shanmugasundram Classified gene: SYT1 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.30 SYT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the SYT1-associated neurodevelopmental disorder. Hence, this gene should be promoted to green rating at the next major update.
Dystonia, chorea or related movement disorder, childhood onset v3.30 SYT1 Achchuthan Shanmugasundram Gene: syt1 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.29 SYT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SYT1.
Dystonia, chorea or related movement disorder, childhood onset v3.29 SYT1 Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, OMIM:618218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, childhood onset v3.29 SQSTM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SQSTM1.
Dystonia, chorea or related movement disorder, childhood onset v3.29 SQSTM1 Achchuthan Shanmugasundram Classified gene: SQSTM1 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.29 SQSTM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated families) available for promoting this gene to green rating at the next major update.
Dystonia, chorea or related movement disorder, childhood onset v3.29 SQSTM1 Achchuthan Shanmugasundram Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.28 SQSTM1 Achchuthan Shanmugasundram Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles , MIM#617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Dystonia, chorea or related movement disorder, childhood onset v3.27 SQSTM1 Achchuthan Shanmugasundram reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v3.27 L2HGDH Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: L2HGDH.
Dystonia, chorea or related movement disorder, childhood onset v3.27 L2HGDH Achchuthan Shanmugasundram Classified gene: L2HGDH as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v3.27 L2HGDH Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the condition and hence this gene can be promoted to green rating in the next GMS review.
Dystonia, chorea or related movement disorder, childhood onset v3.27 L2HGDH Achchuthan Shanmugasundram Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v3.26 L2HGDH Achchuthan Shanmugasundram Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v3.25 L2HGDH Achchuthan Shanmugasundram Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 to L-2-hydroxyglutaric aciduria, OMIM:236792
Dystonia, chorea or related movement disorder, childhood onset v3.24 L2HGDH Achchuthan Shanmugasundram Publications for gene: L2HGDH were set to
Dystonia, chorea or related movement disorder, childhood onset v3.23 L2HGDH Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15824270, 18780161, 24753671; Phenotypes: L-2-hydroxyglutaric aciduria, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.251 MKL2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.251 MKL2 Achchuthan Shanmugasundram Classified gene: MKL2 as Amber List (moderate evidence)
Intellectual disability v5.251 MKL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are only two unrelated cases reported so far, this gene should be rated amber for now.
Intellectual disability v5.251 MKL2 Achchuthan Shanmugasundram Gene: mkl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.250 MKL2 Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.250 MKL2 Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.250 MKL2 Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.249 MKL2 Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.249 MKL2 Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental phenotype with dysmorphic features to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.249 MKL2 Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
Intellectual disability v5.249 MKL2 Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
Intellectual disability v5.248 MKL2 Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
Intellectual disability v5.248 MKL2 Achchuthan Shanmugasundram Publications for gene: MKL2 were set to PMID:37013900
Intellectual disability v5.247 MKL2 Achchuthan Shanmugasundram commented on gene: MKL2: PMID:37013900 - Two unrelated paediatric cases with de novo variants in MKL2 gene (p.Arg103Gly & p.Ala91Pro) were reported with mild dysmorphic features, severe intellectual disability, global developmental delays, speech apraxia, and impulse control issues. Functional studies in a Drosophila model suggest a gain of function disease mechanism.
Intellectual disability v5.247 MKL2 Achchuthan Shanmugasundram reviewed gene: MKL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37013900; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v2.23 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Overgrowth syndrome (not always mosaic in this case) to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Mosaic skin disorders - Deep sequencing v2.22 AKT3 Arina Puzriakova Publications for gene: AKT3 were set to
Mosaic skin disorders - Deep sequencing v2.21 AKT3 Arina Puzriakova Mode of pathogenicity for gene: AKT3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - Deep sequencing v2.20 AKT3 Arina Puzriakova Classified gene: AKT3 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.20 AKT3 Arina Puzriakova Added comment: Comment on list classification: Variants in this gene cause a spectrum of megalencephaly-related disorders, which in some cases can present as megalencephaly-capillary malformation syndrome (MCAP). Both somatic and germline variants have been reported. Vascular skin anomalies have been identified in at least 2 individuals with germline variants (PMIDs: 22729224; 23745724) and 5 individuals with somatic variants (PMIDs: 25722288; 28969385; 34237354; 36695285; 37395289) meaning that AKT3 can be promoted to green at the next GMS panel update.
Mosaic skin disorders - Deep sequencing v2.20 AKT3 Arina Puzriakova Gene: akt3 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v2.19 AKT3 Arina Puzriakova Tag curated_removed was removed from gene: AKT3.
Tag Q3_23_promote_green tag was added to gene: AKT3.
Tag Q3_23_NHS_review tag was added to gene: AKT3.
Vascular skin disorders v1.52 AKT3 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: AKT3.
Vascular skin disorders v1.52 AKT3 Arina Puzriakova Classified gene: AKT3 as Amber List (moderate evidence)
Vascular skin disorders v1.52 AKT3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). Variants in this gene cause a spectrum of megalencephaly-related disorders, which in some cases can present as megalencephaly-capillary malformation syndrome (MCAP). Both somatic and germline variants have been reported. Vascular skin anomalies have been identified in at least 2 individuals germline variants (PMIDs: 22729224; 23745724) and 5 individuals with somatic variants (PMIDs: 25722288; 28969385; 34237354; 36695285; 37395289). Somatic variants may be missed but given that this panel is a possible referral route for these patients, recommending that AKT3 is promoted to green at the next GMS panel update.
Vascular skin disorders v1.52 AKT3 Arina Puzriakova Gene: akt3 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Classified gene: FN1 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Added comment: Comment on list classification: Copied this gene from the Proteinuric renal disease panel and added it to the Unexplained young onset end-stage renal disease panel. Changing it to Amber for now, until it has been completely reviewed for suitability for this panel and until the next GMS update review.
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Gene: fn1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.4 FN1 Eleanor Williams Entity copied from Proteinuric renal disease v4.1
Unexplained young onset end-stage renal disease v3.4 FN1 Eleanor Williams gene: FN1 was added
gene: FN1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 18268355; 27056061; 31419955
Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, OMIM:601894
Intellectual disability v5.247 ATG4D Achchuthan Shanmugasundram Classified gene: ATG4D as Amber List (moderate evidence)
Intellectual disability v5.247 ATG4D Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases with mild cognitive impairment and hence this gene should be rated amber with the current evidence.
Intellectual disability v5.247 ATG4D Achchuthan Shanmugasundram Gene: atg4d has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.246 ATG4D Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs*37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment.

This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs*37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. Based on the clinical, bioinformatic, and functional data, the authors also concluded that bi-allelic loss-of-function variants in ATG4D contribute to the pathogenesis of syndromic neurodevelopmental disorder.

This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
Intellectual disability v5.246 ATG4D Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs*37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had cognitive impairment.

This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs*37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment.

This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
Intellectual disability v5.246 ATG4D Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.246 ATG4D Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder characterized by speech and motor impairment to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.245 ATG4D Achchuthan Shanmugasundram edited their review of gene: ATG4D: Changed rating: AMBER; Changed publications to: 36765070; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.84 AKT3 Arina Puzriakova Publications for gene: AKT3 were set to
Early onset or syndromic epilepsy v4.83 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Intellectual disability v5.245 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Intellectual disability v5.244 ATG4D Achchuthan Shanmugasundram commented on gene: ATG4D
Neurological segmental overgrowth v2.7 AKT3 Arina Puzriakova Tag mosaicism tag was added to gene: AKT3.
Fetal anomalies v3.102 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.120 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Malformations of cortical development v4.4 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Polymicrogyria, macrocephaly to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Segmental overgrowth disorders - Deep sequencing v3.13 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
Proteinuric renal disease v4.1 FN1 Eleanor Williams commented on gene: FN1: Looking at reports of End-stage renal disease and the age of onset:

PMID: 18268355 - Castelletti et al 2008 - 3 members of the same extended family are reported to have ESRF at ages 74, 32 and 34.
PMID: 27056061- Ohtsubo et al 2016 - 1 patient with ESRD at 34 years, and one other at age 49.
PMID: 31419955 - Gonçalves Dos Reis Monteiro et al 2019 - the father and son reported do not appear to have ESRD.
Intellectual disability v5.244 PSMC3 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.244 PSMC3 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.244 PSMC3 Achchuthan Shanmugasundram Classified gene: PSMC3 as Amber List (moderate evidence)
Intellectual disability v5.244 PSMC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene can be promoted to green rating at the next GMS review.
Intellectual disability v5.244 PSMC3 Achchuthan Shanmugasundram Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Intellectual disability v5.243 PSMC3 Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PSMC3.
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.242 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.241 PSMC3 Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from neurodevelopmental delay to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.241 PSMC3 Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
Intellectual disability v5.241 PSMC3 Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
Intellectual disability v5.241 PSMC3 Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
Intellectual disability v5.240 PSMC3 Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
Intellectual disability v5.240 PSMC3 Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to PMID: 37256937
Intellectual disability v5.239 PSMC3 Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32500975, 37256937; Phenotypes: ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Segmental overgrowth disorders - Deep sequencing v3.12 AKT2 Arina Puzriakova Classified gene: AKT2 as Amber List (moderate evidence)
Segmental overgrowth disorders - Deep sequencing v3.12 AKT2 Arina Puzriakova Added comment: Comment on list classification: At least three unrelated families reported with the same activating mosaic c.49G>A (p.E17K) variant in the AKT2 gene. Mild asymmetric overgrowth was seen in 2/3 cases. Sibs from the third family showed early overgrowth but no signs of body asymmetry. Overall the evidence is borderline amber/green. However, as this gene has been expert reviewed as green by Tom Cullup (GOSH) and is likely to be diagnostically relevant, recommending AKT2 is promoted to green status at the next GMS panel update.
Segmental overgrowth disorders - Deep sequencing v3.12 AKT2 Arina Puzriakova Gene: akt2 has been classified as Amber List (Moderate Evidence).
Segmental overgrowth disorders - Deep sequencing v3.11 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to 28502730
Segmental overgrowth disorders - Deep sequencing v3.10 AKT2 Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Segmental overgrowth disorders - Deep sequencing v3.9 AKT2 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: AKT2.
Tag Q3_23_NHS_review tag was added to gene: AKT2.
Tag recurrent-variant tag was added to gene: AKT2.
Mosaic skin disorders - Deep sequencing v2.19 PIK3R1 Arina Puzriakova Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931
Mosaic skin disorders - Deep sequencing v2.18 PIK3R1 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PIK3R1.
Tag Q3_23_NHS_review tag was added to gene: PIK3R1.
Segmental overgrowth disorders - Deep sequencing v3.9 PIK3R1 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PIK3R1.
Tag Q3_23_NHS_review tag was added to gene: PIK3R1.
Segmental overgrowth disorders - Deep sequencing v3.9 PIK3R1 Arina Puzriakova Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931
Mosaic skin disorders - Deep sequencing v2.18 PIK3R1 Arina Puzriakova Classified gene: PIK3R1 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.18 PIK3R1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum.
Mosaic skin disorders - Deep sequencing v2.18 PIK3R1 Arina Puzriakova Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Segmental overgrowth disorders - Deep sequencing v3.8 PIK3R1 Arina Puzriakova Classified gene: PIK3R1 as Amber List (moderate evidence)
Segmental overgrowth disorders - Deep sequencing v3.8 PIK3R1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum.
Segmental overgrowth disorders - Deep sequencing v3.8 PIK3R1 Arina Puzriakova Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.241 KCNH5 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.241 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.241 KCNH5 Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
Intellectual disability v5.241 KCNH5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
Intellectual disability v5.241 KCNH5 Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.240 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.239 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v5.238 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v5.237 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v5.236 KCNH5 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.236 KCNH5 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.235 KCNH5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KCNH5.
Intellectual disability v5.235 KCNH5 Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23647072, 35874597, 36307226, 24133262; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.82 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v4.81 KCNH5 Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 24133262; 23647072
Early onset or syndromic epilepsy v4.80 KCNH5 Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from epilepsy to developmental and epileptic encephalopathy, MONDO:0100062; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.79 KCNH5 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to epilepsy. Hence, this gene can be promoted to green rating at the next GMS review.
Early onset or syndromic epilepsy v4.78 KCNH5 Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.77 KCNH5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KCNH5.
Early onset or syndromic epilepsy v4.77 KCNH5 Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23647072, 35874597, 36307226, 24133262; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062, epilepsy, MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v4.15 SETD5 Achchuthan Shanmugasundram Phenotypes for gene: SETD5 were changed from Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; skeletal dysplasia, MONDO:0018230; facial dysmorphism
Skeletal dysplasia v4.14 SETD5 Achchuthan Shanmugasundram edited their review of gene: SETD5: Changed phenotypes to: Intellectual developmental disorder, autosomal dominant 23, OMIM:615761, skeletal dysplasia, MONDO:0018230
Skeletal dysplasia v4.14 SETD5 Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v4.14 SETD5 Achchuthan Shanmugasundram Classified gene: SETD5 as Amber List (moderate evidence)
Skeletal dysplasia v4.14 SETD5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, the observed intellectual developmental disorder phenotype includes skeletal abnormalities ( at least 9 cases) and these might appear before ID. Hence, this gene can be promoted to green rating in the next GMS review.
Skeletal dysplasia v4.14 SETD5 Achchuthan Shanmugasundram Gene: setd5 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v4.13 SETD5 Achchuthan Shanmugasundram Classified gene: SETD5 as Amber List (moderate evidence)
Skeletal dysplasia v4.13 SETD5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, the observed intellectual developmental disorder phenotype includes skeletal abnormalities ( at least 9 cases) and these might appear before ID. Hence, this gene can be promoted to green rating in the next GMS review.
Skeletal dysplasia v4.13 SETD5 Achchuthan Shanmugasundram Gene: setd5 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v4.12 SETD5 Achchuthan Shanmugasundram Phenotypes for gene: SETD5 were changed from Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Skeletal dysplasia; intellectual disability; developmental delay; facial dysmorphism
Skeletal dysplasia v4.11 SETD5 Achchuthan Shanmugasundram Publications for gene: SETD5 were set to 28881385
Skeletal dysplasia v4.10 SETD5 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SETD5.
Tag Q3_23_NHS_review tag was added to gene: SETD5.
Skeletal dysplasia v4.10 SETD5 Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680889, 28881385; Phenotypes: Intellectual developmental disorder, autosomal dominant 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Classified gene: ELAC2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for the promotion of this gene to green rating in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Gene: elac2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.27 ELAC2 Achchuthan Shanmugasundram Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, OMIM:615440
Paediatric or syndromic cardiomyopathy v3.26 ELAC2 Achchuthan Shanmugasundram Publications for gene: ELAC2 were set to PMID: 23849775
Paediatric or syndromic cardiomyopathy v3.25 ELAC2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ELAC2.
Tag Q3_23_NHS_review tag was added to gene: ELAC2.
Paediatric or syndromic cardiomyopathy v3.25 ELAC2 Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775; Phenotypes: Combined oxidative phosphorylation deficiency 17, OMIM:615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Classified gene: PPA2 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for this gene to be promoted to green rating at the next GMS review.
Dilated and arrhythmogenic cardiomyopathy v2.14 PPA2 Achchuthan Shanmugasundram Gene: ppa2 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v2.13 PPA2 Achchuthan Shanmugasundram Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced to Sudden cardiac failure, infantile, OMIM:617222; ?Sudden cardiac failure, alcohol-induced, OMIM:617223
Dilated and arrhythmogenic cardiomyopathy v2.12 PPA2 Achchuthan Shanmugasundram Publications for gene: PPA2 were set to PMID: 34400813
Dilated and arrhythmogenic cardiomyopathy v2.11 PPA2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPA2.
Tag Q3_23_NHS_review tag was added to gene: PPA2.
Dilated and arrhythmogenic cardiomyopathy v2.11 PPA2 Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMIM:617222, ?Sudden cardiac failure, alcohol-induced, OMIM:617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.235 CLCNKB Sarah Leigh Tag polygenic was removed from gene: CLCNKB.
Tag digenic tag was added to gene: CLCNKB.
Intellectual disability v5.235 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Fetal anomalies v3.101 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Ductal plate malformation v1.23 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090) to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Nephrocalcinosis or nephrolithiasis v4.2 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364; Type 3 Bartter syndrome; Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Renal tubulopathies v4.4 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, OMIM:607364; Bartter syndrome, type 4b, digenic, OMIM:613090 to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Renal tubulopathies v4.3 CLCNKB Sarah Leigh Deleted their comment
Leukodystrophy, adult onset v3.16 GCDH Sarah Leigh Tag Q3_23_promote_green tag was added to gene: GCDH.
Tag Q3_23_MOI tag was added to gene: GCDH.
Leukodystrophy, adult onset v3.16 GCDH Sarah Leigh edited their review of gene: GCDH: Added comment: GCDH variants are associated with Glutaricaciduria, type I (OMIM:231670) and as definitive Gen2Phen gene for the same condition. Although OMIM:231670 usually manifests in infancy, four unrelated cases, including white matter involvement, have been reported with an age of onset of 16 to 35 years (15985591;12473778; https://doi.org/10.1002/mds.10442).; Changed rating: GREEN; Changed publications to: 15985591, 12473778, https://doi.org/10.1002/mds.10442; Changed phenotypes to: Glutaricaciduria, type I, OMIM:231670; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy, adult onset v3.16 GCDH Sarah Leigh Added comment: Comment on publications: Publication not in PUBMED: https://doi.org/10.1002/mds.10442 "Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl"
Emilio Fernández-Álvarez MD, PhD, Angeles García-Cazorla MD, Anna Sans MD, Cristina Boix PhD, María Antonia Vilaseca PhD, Christianne Busquets PhD, Antonia Ribes PhD
First published: 01 April 2003
Leukodystrophy, adult onset v3.16 GCDH Sarah Leigh Publications for gene: GCDH were set to 15985591
Mosaic skin disorders - Deep sequencing v2.17 NEK9 Arina Puzriakova Tag somatic tag was added to gene: NEK9.
Mosaic skin disorders - Deep sequencing v2.17 NEK9 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases (PMIDs: 27153399; 34184242; 31961058)
Mosaic skin disorders - Deep sequencing v2.17 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to PMID: 27153399; 34184242; 33481271
Mosaic skin disorders - Deep sequencing v2.16 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v2.16 NEK9 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases.
Mosaic skin disorders - Deep sequencing v2.16 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Classified gene: BLM as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with severe insulin resistance and hence it can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.47 BLM Achchuthan Shanmugasundram Gene: blm has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.46 BLM Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: BLM.
Tag Q3_23_NHS_review tag was added to gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.46 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to 7585968; 16763388; 21536711; 27710244; 2823277; 2947793
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 28232778, 29477938
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 28232778, 2947793
Severe insulin resistance and lipodystrophy syndromes v4.45 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to 7585968; 16763388; 2153671; 27710244; 2823277; 2947793
Severe insulin resistance and lipodystrophy syndromes v4.44 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Changed publications to: 7585968, 16763388, 21536711, 27710244, 2823277, 2947793
Severe insulin resistance and lipodystrophy syndromes v4.44 BLM Achchuthan Shanmugasundram Publications for gene: BLM were set to
Severe insulin resistance and lipodystrophy syndromes v4.43 BLM Achchuthan Shanmugasundram Phenotypes for gene: BLM were changed from Bloom Syndrome, severe insulin resistance to Bloom syndrome, OMIM:210900; Insulin resistance, HP:0000855
Mosaic skin disorders - Deep sequencing v2.15 NEK9 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: NEK9.
Tag Q3_23_NHS_review tag was added to gene: NEK9.
Severe insulin resistance and lipodystrophy syndromes v4.42 BLM Achchuthan Shanmugasundram edited their review of gene: BLM: Added comment: Insulin resistance was observed in six individuals and lipid profile abnormalities were reported in five of ten individuals with Bloom syndrome (PMID:16763388).; Changed rating: GREEN; Changed publications to: 7585968, 16763388, 2153671, 27710244, 2823277, 2947793
Mosaic skin disorders - Deep sequencing v2.15 NEK9 Arina Puzriakova Phenotypes for gene: NEK9 were changed from nevus comedonicus (NC) (MIM: 617025) to Nevus comedonicus, somatic, OMIM:617025
Leukodystrophy, adult onset v3.15 GCDH Sarah Leigh Phenotypes for gene: GCDH were changed from Glutaric aciduria, type I 231670 to Glutaricaciduria, type I, OMIM:231670; glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
Leukodystrophy, adult onset v3.14 GCDH Sarah Leigh Classified gene: GCDH as Amber List (moderate evidence)
Leukodystrophy, adult onset v3.14 GCDH Sarah Leigh Gene: gcdh has been classified as Amber List (Moderate Evidence).
Leukodystrophy, adult onset v3.13 RNF216 Sarah Leigh Classified gene: RNF216 as Green List (high evidence)
Leukodystrophy, adult onset v3.13 RNF216 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel at the next major review.
Leukodystrophy, adult onset v3.13 RNF216 Sarah Leigh Gene: rnf216 has been classified as Green List (High Evidence).
Leukodystrophy, adult onset v3.12 RNF216 Sarah Leigh Tag Q3_23_demote_amber tag was added to gene: RNF216.
Leukodystrophy, adult onset v3.12 RNF216 Sarah Leigh changed review comment from: RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840), previously known as Gordon Holmes syndrome (GDHS). No phenotype was associated with RNF216 in Gen2Phen.
At least six variants have been reported in four unrelated cases of OMIM:212840. Three of these variants, in four individuals from two unrelated families, have been associated with a variant of GDHS. The variant GDHS includes Huntingtons-like features including white matter lesions (PMID: 16691578).; to: RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840), previously known as Gordon Holmes syndrome (GDHS). No phenotype was associated with RNF216 in Gen2Phen.
At least six variants have been reported in four unrelated cases of OMIM:212840. Three of these variants, in four individuals from two unrelated families, have been associated with a variant of GDHS. The variant GDHS includes Huntingtons-like features including white matter lesions (PMID: 25841028).
Leukodystrophy, adult onset v3.12 RNF216 Sarah Leigh reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: None; Publications: 25841028; Phenotypes: ; Mode of inheritance: None
Leukodystrophy, adult onset v3.12 RNF216 Sarah Leigh Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Severe insulin resistance and lipodystrophy syndromes v4.42 PSMA3 Achchuthan Shanmugasundram Classified gene: PSMA3 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.42 PSMA3 Achchuthan Shanmugasundram Gene: psma3 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.41 PSMA3 Achchuthan Shanmugasundram Publications for gene: PSMA3 were set to
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMA3 Achchuthan Shanmugasundram Tag digenic tag was added to gene: PSMA3.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMA3 Achchuthan Shanmugasundram changed review comment from: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

The 'digenic' tag has been added as both reported cases had variants in PSMB8 in addition to PSMA3 variants.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMA3 Achchuthan Shanmugasundram edited their review of gene: PSMA3: Added comment: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; Changed rating: AMBER; Changed publications to: 26524591
Leukodystrophy, adult onset v3.11 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMA3 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations in PSMB4 or PSMB8 (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591). PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9. Only DIGENIC cases of CANDLES involving PSMA3 have been reported.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations in PSMB4 or PSMB8 (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591).

PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9. Only DIGENIC cases of CANDLES involving PSMA3 have been reported.
Leukodystrophy, adult onset v3.10 RPS6KA3 Sarah Leigh Classified gene: RPS6KA3 as Green List (high evidence)
Leukodystrophy, adult onset v3.10 RPS6KA3 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.
Leukodystrophy, adult onset v3.10 RPS6KA3 Sarah Leigh Gene: rps6ka3 has been classified as Green List (High Evidence).
Leukodystrophy, adult onset v3.9 RPS6KA3 Sarah Leigh Tag Q3_23_demote_red tag was added to gene: RPS6KA3.
Leukodystrophy, adult onset v3.9 RPS6KA3 Sarah Leigh edited their review of gene: RPS6KA3: Changed publications to: 16691578
Leukodystrophy, adult onset v3.9 RPS6KA3 Sarah Leigh reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB8 Achchuthan Shanmugasundram changed review comment from: The 'digenic' tag has been added as there are two cases reported with heterozygous variants from both PSMB4 and PSMB8 in addition to patients with homozygous PSMB8 variants.; to: The 'digenic' tag has been added as there are four digenic cases reported (two cases each with heterozygous variants in PSMA3/ PSMB8 and PSMB4/ PSMB8) in addition to patients with homozygous PSMB8 variants.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB4 Achchuthan Shanmugasundram changed review comment from: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMA3 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.; to: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB9 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB4 Achchuthan Shanmugasundram commented on gene: PSMB4: The 'digenic' tag has been added as there are four additional cases with heterozygous PSMB4 variants and heterozygous variants in either PSMA3 and PSMB8.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB4 Achchuthan Shanmugasundram Classified gene: PSMB4 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for the association of biallelic variants in PSMB4 with lipodystrophy (two unrelated cases and supporting functional evidence). Hence, this gene can be promoted to green rating in the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.40 PSMB4 Achchuthan Shanmugasundram Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.39 PSMB4 Achchuthan Shanmugasundram Tag digenic tag was added to gene: PSMB4.
Tag Q3_23_promote_green tag was added to gene: PSMB4.
Tag Q3_23_NHS_review tag was added to gene: PSMB4.
Severe insulin resistance and lipodystrophy syndromes v4.39 PSMB4 Achchuthan Shanmugasundram Phenotypes for gene: PSMB4 were changed from Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) to ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Severe insulin resistance and lipodystrophy syndromes v4.38 PSMB4 Achchuthan Shanmugasundram Publications for gene: PSMB4 were set to
Severe insulin resistance and lipodystrophy syndromes v4.37 PSMB4 Achchuthan Shanmugasundram edited their review of gene: PSMB4: Added comment: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMA3 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.; Changed rating: GREEN; Changed publications to: 26524591, 34416217
Severe insulin resistance and lipodystrophy syndromes v4.37 PSMB4 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591). See panel app reviews for autoinflammatory syndromes. PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591). See panel app reviews for autoinflammatory syndromes.

PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.
Severe insulin resistance and lipodystrophy syndromes v4.37 PSMB8 Achchuthan Shanmugasundram Classified gene: PSMB8 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.37 PSMB8 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.37 PSMB8 Achchuthan Shanmugasundram Gene: psmb8 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.36 PSMB8 Achchuthan Shanmugasundram commented on gene: PSMB8: The 'digenic' tag has been added as there are two cases reported with heterozygous variants from both PSMB4 and PSMB8 in addition to patients with homozygous PSMB8 variants.
Severe insulin resistance and lipodystrophy syndromes v4.36 PSMB8 Achchuthan Shanmugasundram Phenotypes for gene: PSMB8 were changed from Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Severe insulin resistance and lipodystrophy syndromes v4.35 PSMB8 Achchuthan Shanmugasundram Publications for gene: PSMB8 were set to
Severe insulin resistance and lipodystrophy syndromes v4.34 PSMB8 Achchuthan Shanmugasundram edited their review of gene: PSMB8: Changed publications to: 20534754, 21129723, 21953331, 26524591
Severe insulin resistance and lipodystrophy syndromes v4.34 PSMB8 Achchuthan Shanmugasundram Tag digenic tag was added to gene: PSMB8.
Tag Q3_23_promote_green tag was added to gene: PSMB8.
Tag Q3_23_NHS_review tag was added to gene: PSMB8.
Severe insulin resistance and lipodystrophy syndromes v4.34 PSMB8 Achchuthan Shanmugasundram edited their review of gene: PSMB8: Added comment: PMID:21129723 - A homozygous missense variant (c.224C>T/ p.Thr75Met) in PSMB8 gene was identified in affected patients from two different families with an autosomal-recessive autoinflammatory syndrome characterised by joint contractures, muscle atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP).

PMID:21953331 - Of nine patients from eight families reported in this publication with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome), four patients were homozygous and two were heterozygous for the previously reported missense variant (c.224C>T), one had no PSMB8 variant and one patient was homozygous for a novel nonsense variant (c.405C>A).

This gene has been associated with relevant phenotypes in OMIM (MIM #256040) and Gene2Phenotype ('definitive' rating in the DD panel for Nakajo syndrome) and lipodystrophy has been included as a part of this phenotype in these resources.; Changed rating: GREEN; Changed publications to: 21129723, 21953331
Congenital myopathy v4.30 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Congenital myopathy v4.30 LETM1 Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), myopathy 6/12 (50%) (PMID: 36055214, figure 1c).
Monogenic hearing loss v4.13 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Hereditary spastic paraplegia, childhood onset v4.16 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Hereditary spastic paraplegia, childhood onset v4.16 LETM1 Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), spasticity 8/15 (53%) (PMID: 36055214, figure 1c).
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), cardiomyopathy (5/14, 36%)(PMID: 36055214, figure 1c).
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Bilateral congenital or childhood onset cataracts v4.2 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Monogenic hearing loss v4.13 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Monogenic hearing loss v4.13 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Monogenic hearing loss. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Hereditary spastic paraplegia, childhood onset v4.16 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Hereditary spastic paraplegia, childhood onset v4.16 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Congenital myopathy v4.30 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Congenital myopathy v4.30 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Congenital myopathy. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Likely inborn error of metabolism v4.44 LETM1 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. PMID: 36055214 reports 12 LETM1 variants in 11 unrelated cases of Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (OMIM: 620089), together with supportive functional studies.; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Mitochondrial disorders v4.71 LETM1 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. PMID: 36055214 reports 12 LETM1 variants in 11 unrelated cases of Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (OMIM: 620089), together with supportive functional studies.; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Intellectual disability v5.234 LETM1 Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Early onset or syndromic epilepsy v4.77 LETM1 Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Possible mitochondrial disorder, nuclear genes v3.42 LETM1 Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Optic neuropathy v4.10 LETM1 Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Acute rhabdomyolysis v1.12 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Acute rhabdomyolysis v1.12 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.24 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.71 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Mitochondrial disorders v4.71 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.234 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.7 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
DDG2P v3.7 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.100 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.42 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.41 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.44 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Likely inborn error of metabolism v4.44 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.596 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.7 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.6 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.7 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Rhabdomyolysis and metabolic muscle disorders v3.7 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v1.21 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.7 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Acute rhabdomyolysis v1.12 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Mitochondrial disorders v4.71 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Intellectual disability v5.233 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
DDG2P v3.7 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Fetal anomalies v3.99 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Possible mitochondrial disorder, nuclear genes v3.41 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Likely inborn error of metabolism v4.44 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Undiagnosed metabolic disorders v1.595 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Short QT syndrome v3.6 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Rhabdomyolysis and metabolic muscle disorders v3.7 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Hyperammonaemia v1.20 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Severe insulin resistance and lipodystrophy syndromes v4.34 PSMB8 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 20534754, 21129723, 21953331) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB4, PSMA3)(PMID: 26524591). PSMB9 has also been implicated in digenic causes but these are in single kindreds and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 20534754, 21129723, 21953331) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB4, PSMA3)(PMID: 26524591).

PSMB9 has also been implicated in digenic causes but these are in single kindreds and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.
Severe insulin resistance and lipodystrophy syndromes v4.34 EPHX1 Achchuthan Shanmugasundram changed review comment from: Two unrelated cases presenting with lipoatrophic diabetes were identified with de novo variants in EPHX1 gene (patient 1: p.Thr333Pro; patient 2: p.Gly430Arg). The disease was characterised by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. Functional analysis showed that these variants protein aggregation within the endoplasmic reticulum and to a loss of its hydrolysis activity. In addition, CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response.; to: Two unrelated cases presenting with lipoatrophic diabetes were identified with de novo variants in EPHX1 gene (patient 1: p.Thr333Pro; patient 2: p.Gly430Arg). The disease was characterised by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. Functional analysis showed that these variants protein aggregation within the endoplasmic reticulum and to a loss of its hydrolysis activity. In addition, CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Severe insulin resistance and lipodystrophy syndromes v4.34 EPHX1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: EPHX1.
Tag Q3_23_NHS_review tag was added to gene: EPHX1.
Severe insulin resistance and lipodystrophy syndromes v4.34 EPHX1 Achchuthan Shanmugasundram Classified gene: EPHX1 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.34 EPHX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) in support of the association of this gene with lipodystrophy and severe insulin resistance. Hence, this gene can be promoted to green rating in the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.34 EPHX1 Achchuthan Shanmugasundram Gene: ephx1 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.33 EPHX1 Achchuthan Shanmugasundram Phenotypes for gene: EPHX1 were changed from Lipodystrophy, Severe Insulin Resistance to lipodystrophy, MONDO:0006573; Insulin resistance, HP:0000855
Severe insulin resistance and lipodystrophy syndromes v4.32 EPHX1 Achchuthan Shanmugasundram Publications for gene: EPHX1 were set to
Severe insulin resistance and lipodystrophy syndromes v4.31 EPHX1 Achchuthan Shanmugasundram edited their review of gene: EPHX1: Changed rating: GREEN
Severe insulin resistance and lipodystrophy syndromes v4.31 EPHX1 Achchuthan Shanmugasundram edited their review of gene: EPHX1: Added comment: Two unrelated cases presenting with lipoatrophic diabetes were identified with de novo variants in EPHX1 gene (patient 1: p.Thr333Pro; patient 2: p.Gly430Arg). The disease was characterised by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. Functional analysis showed that these variants protein aggregation within the endoplasmic reticulum and to a loss of its hydrolysis activity. In addition, CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response.; Changed publications to: 34342583
Intellectual disability v5.233 RPS6KA3 Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPS6KA3.
Intellectual disability v5.233 RPS6KA3 Arina Puzriakova Publications for gene: RPS6KA3 were set to
Intellectual disability v5.232 RPS6KA3 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from XLR to XLD (monoallelic variants in females may cause disease) at the next GMS panel update as several affected female carriers have been reported. ID in female carriers can range from mild to severe which is within the scope of the panel (PMIDs: 12210291; 12030896; 12558110; 17318637). This would also match the current MOI on other GMS panels and OMIM.
Intellectual disability v5.232 RPS6KA3 Arina Puzriakova Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v3.99 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome, OMIM:303600
Leukodystrophy, adult onset v3.9 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600 to Coffin-Lowry syndrome, OMIM:303600
Intellectual disability v5.231 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844; COFFIN-LOWRY SYNDROME (CLS) to Coffin-Lowry syndrome, OMIM:303600; Intellectual developmental disorder, X-linked 19, OMIM:300844
Severe insulin resistance and lipodystrophy syndromes v4.31 EPHX1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: EPHX1 is an epoxide hydroxylase, highly expressed in liver and adipose tissue. De novo missense mutations (p.Thr333Pro and p.Gly430Arg) in EPHX1 carried in heterozygosity were implicated in a lipoatrophic diabetes syndrome in two unrelated probands (PMID: 34342583). In vitro characterisation demonstrated loss of enzyme activity in these two mutants and localisation studies demonstrated aggregation of the mutant EPHX1 isoforms in the ER, suggestive of a dominant negative mechanism of action. Consistent with a causal role for EPHX1 in the affected probands' syndrome, circulating epoxy fatty acids were found to be elevated. Variants implicated in the described clinical syndrome caused EPHX1 to form oligomeric complexes and aggregate in the ER. As such it is likely that simple loss of function mutations in EPHX1 do not cause this syndrome, and a dominant negative effect of the EPHX1 mutants is likely the causal mechanism. Consistent with this EPHX1 appears to be LOF tolerant (pLI gnomad = 0, https://gnomad.broadinstitute.org/gene/ENSG00000143819); to: This gene was added on recommendation of NHSE Genomic Medicine Service:
EPHX1 is an epoxide hydroxylase, highly expressed in liver and adipose tissue. De novo missense mutations (p.Thr333Pro and p.Gly430Arg) in EPHX1 carried in heterozygosity were implicated in a lipoatrophic diabetes syndrome in two unrelated probands (PMID: 34342583). In vitro characterisation demonstrated loss of enzyme activity in these two mutants and localisation studies demonstrated aggregation of the mutant EPHX1 isoforms in the ER, suggestive of a dominant negative mechanism of action. Consistent with a causal role for EPHX1 in the affected probands' syndrome, circulating epoxy fatty acids were found to be elevated. Variants implicated in the described clinical syndrome caused EPHX1 to form oligomeric complexes and aggregate in the ER. As such it is likely that simple loss of function mutations in EPHX1 do not cause this syndrome, and a dominant negative effect of the EPHX1 mutants is likely the causal mechanism. Consistent with this EPHX1 appears to be LOF tolerant (pLI gnomad = 0, https://gnomad.broadinstitute.org/gene/ENSG00000143819).
Severe insulin resistance and lipodystrophy syndromes v4.31 MFN2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MFN2.
Tag Q3_23_NHS_review tag was added to gene: MFN2.
Severe insulin resistance and lipodystrophy syndromes v4.31 MFN2 Achchuthan Shanmugasundram Classified gene: MFN2 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.31 MFN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by NHS, there is sufficient evidence available for associating this gene with lipomatosis and severe insulin resistance and hence this gene can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.31 MFN2 Achchuthan Shanmugasundram Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.30 MFN2 Achchuthan Shanmugasundram Publications for gene: MFN2 were set to 26085578; 28414270; 3015806
Severe insulin resistance and lipodystrophy syndromes v4.29 MFN2 Achchuthan Shanmugasundram edited their review of gene: MFN2: Changed publications to: 26085578, 28414270, 30158064
Severe insulin resistance and lipodystrophy syndromes v4.29 MFN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Autosomal recessive variants in this gene have been associated with cephalothoracic lipodystrophy in OMIM (MIM #151800), but not in Gene2Phenotype.
Severe insulin resistance and lipodystrophy syndromes v4.29 MFN2 Achchuthan Shanmugasundram Phenotypes for gene: MFN2 were changed from MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy to Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800
Severe insulin resistance and lipodystrophy syndromes v4.28 MFN2 Achchuthan Shanmugasundram Publications for gene: MFN2 were set to
Severe insulin resistance and lipodystrophy syndromes v4.27 MFN2 Achchuthan Shanmugasundram edited their review of gene: MFN2: Changed rating: GREEN; Changed publications to: 26085578, 28414270, 3015806
Severe insulin resistance and lipodystrophy syndromes v4.27 MFN2 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Biallelic R707W mutations or R707W in compound heterozygosity with other loss of function variants cause a complex clinical syndrome consisting of multiple lipomas/upper body adipose tissue overgrowth, concomitant lipoatrophy and the development of severe insulin resistance and its metabolic complications. Affected individuals also have a paucisymptomatic axonal neuropathy. This has now been demonstrated in at least 13 patients from 10 independent families (PMID: 30158064, 28414270, 26085578). It is likely that mitochondrial dysfunction in adipose tissue is crucial to the pathogenesis of this condition but the specific cellular and molecular mechanisms remain to be elucidated.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Biallelic R707W mutations or R707W in compound heterozygosity with other loss of function variants cause a complex clinical syndrome consisting of multiple lipomas/upper body adipose tissue overgrowth, concomitant lipoatrophy and the development of severe insulin resistance and its metabolic complications. Affected individuals also have a paucisymptomatic axonal neuropathy. This has now been demonstrated in at least 13 patients from 10 independent families (PMID: 30158064, 28414270, 26085578). It is likely that mitochondrial dysfunction in adipose tissue is crucial to the pathogenesis of this condition but the specific cellular and molecular mechanisms remain to be elucidated.
Severe insulin resistance and lipodystrophy syndromes v4.27 POC1A Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: POC1A.
Tag Q3_23_NHS_review tag was added to gene: POC1A.
Severe insulin resistance and lipodystrophy syndromes v4.27 POC1A Achchuthan Shanmugasundram Classified gene: POC1A as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.27 POC1A Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by the NHS, there is sufficient evidence (9 unrelated cases) in support of the association of this gene with severe dyslipidaemic insulin resistance. Hence, this gene can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.27 POC1A Achchuthan Shanmugasundram Gene: poc1a has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.26 POC1A Achchuthan Shanmugasundram Phenotypes for gene: POC1A were changed from SOFT syndrome, Severe insulin resistance to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813; Insulin resistance, HP:0000855
Severe insulin resistance and lipodystrophy syndromes v4.25 POC1A Achchuthan Shanmugasundram Publications for gene: POC1A were set to
Severe insulin resistance and lipodystrophy syndromes v4.24 POC1A Achchuthan Shanmugasundram edited their review of gene: POC1A: Changed publications to: 22440536, 26336158, 28819016, 33372278, 35234134
Severe insulin resistance and lipodystrophy syndromes v4.24 POC1A Achchuthan Shanmugasundram edited their review of gene: POC1A: Changed rating: GREEN; Changed publications to: 22440536, 26336158, 28819016,33372278, 35234134
Severe insulin resistance and lipodystrophy syndromes v4.24 POC1A Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278, 22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Severe insulin resistance and lipodystrophy syndromes v4.24 POC1A Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: 9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278 ,22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Severe insulin resistance and lipodystrophy syndromes v4.24 CIDEC Achchuthan Shanmugasundram Phenotypes for gene: CIDEC were changed from Lipodystrophy, familial partial, type 5, 615238 to ?Lipodystrophy, familial partial, type 5, OMIM:615238
Severe insulin resistance and lipodystrophy syndromes v4.23 CIDEC Achchuthan Shanmugasundram Classified gene: CIDEC as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.23 CIDEC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is one case with partial lipodystrophy and evidence from mouse models. This gene is already reported in OMIM, but not in Gene2Phenotype. Hence, this gene can only be rated amber with current evidence.
Severe insulin resistance and lipodystrophy syndromes v4.23 CIDEC Achchuthan Shanmugasundram Gene: cidec has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.22 CIDEC Achchuthan Shanmugasundram Publications for gene: CIDEC were set to
Severe insulin resistance and lipodystrophy syndromes v4.21 CIDEC Achchuthan Shanmugasundram edited their review of gene: CIDEC: Changed rating: AMBER; Changed publications to: 20049731, 25565658, 27710244; Changed phenotypes to: ?Lipodystrophy, familial partial, type 5, OMIM:615238
Severe insulin resistance and lipodystrophy syndromes v4.21 PCYT1A Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Compound heterozygous loss of function mutations co-segregate with lipodystrophy and its metabolic sequelae in two independent pedigrees and PCYT1A knockdown impairs adipogenesis in vitro (PMID: 24889630). These patients did not exhibit features of spondylometaphyseal dysplasia or any retinal disesae, despite dedicated assessment. To our knowledge, the basis for the phenotypic heterogeneity in carriers of biallelic loss of function PCYT1A mutations is not understood.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Compound heterozygous loss of function mutations co-segregate with lipodystrophy and its metabolic sequelae in two independent pedigrees and PCYT1A knockdown impairs adipogenesis in vitro (PMID: 24889630). These patients did not exhibit features of spondylometaphyseal dysplasia or any retinal disesae, despite dedicated assessment. To our knowledge, the basis for the phenotypic heterogeneity in carriers of biallelic loss of function PCYT1A mutations is not understood.
Severe insulin resistance and lipodystrophy syndromes v4.21 PCYT1A Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PCYT1A.
Tag Q3_23_NHS_review tag was added to gene: PCYT1A.
Severe insulin resistance and lipodystrophy syndromes v4.21 PCYT1A Achchuthan Shanmugasundram Classified gene: PCYT1A as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.21 PCYT1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) for promoting this gene to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.21 PCYT1A Achchuthan Shanmugasundram Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.20 PCYT1A Achchuthan Shanmugasundram edited their review of gene: PCYT1A: Changed rating: GREEN
Severe insulin resistance and lipodystrophy syndromes v4.20 PCYT1A Achchuthan Shanmugasundram Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, Congenital lipodystrophy to Spondylometaphyseal dysplasia with cone-rod dystrophy, OMIM:608940; congenital generalized lipodystrophy, MONDO:0006536; Insulin resistance, HP:0000855
Severe insulin resistance and lipodystrophy syndromes v4.19 PCYT1A Achchuthan Shanmugasundram Publications for gene: PCYT1A were set to
Severe insulin resistance and lipodystrophy syndromes v4.18 PCYT1A Achchuthan Shanmugasundram edited their review of gene: PCYT1A: Added comment: Two unrelated patients were identified with biallelic loss-of-function PCYT1A variants (patient 1: p.Glu280del/ p.Val142Met; patient 2: p.Glu280del/ p.333fs) and were reported with lipodystrophy, severe insulin resistance and diabetes. Functional studies showed that the presence of these variants result in near-total lack of PCYT1A expression and significantly reduce PC synthesis via the Kennedy pathway (PMID:24889630). Some of the phenotypes seen in patients such as severe fatty liver and low HDL cholesterol levels have also been seen in the liver-specific deletion of murine PCYT1A gene (PMID:18955728).; Changed publications to: 18955728, 24889630
Severe insulin resistance and lipodystrophy syndromes v4.18 PCNT Achchuthan Shanmugasundram Classified gene: PCNT as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.18 PCNT Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.18 PCNT Achchuthan Shanmugasundram Gene: pcnt has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.17 PCNT Achchuthan Shanmugasundram Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, Severe insulin resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Insulin resistance, HP:0000855
Severe insulin resistance and lipodystrophy syndromes v4.16 PCNT Achchuthan Shanmugasundram Publications for gene: PCNT were set to
Severe insulin resistance and lipodystrophy syndromes v4.15 PCNT Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PCNT.
Tag Q3_23_NHS_review tag was added to gene: PCNT.
Severe insulin resistance and lipodystrophy syndromes v4.15 PCNT Achchuthan Shanmugasundram edited their review of gene: PCNT: Added comment: Of 21 patients with biallelic PCNT variants, 18 had insulin resistance, which was severe in the majority of patients. Ten patients had confirmed diabetes (mean age of onset 15 years), and 13 had metabolic dyslipidemia. All patients without insulin resistance were younger than 4 years old. In addition, knockdown of PCNT in adipocytes had no effect on proximal insulin signaling but produced a two-fold impairment in insulin-stimulated glucose uptake, approximately commensurate with an associated defect in cell proliferation and adipogenesis (PMID:21270239).; Changed rating: GREEN; Changed publications to: 21270239
Intellectual disability v5.230 KCNH5 Dmitrijs Rots reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36307226, 35874597; Phenotypes: Neurodevelopmental disorder and Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.77 KCNH5 Dmitrijs Rots reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36307226, 35874597; Phenotypes: NDD with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v3.1 GNB1 Dmitrijs Rots gene: GNB1 was added
gene: GNB1 was added to Rare genetic inflammatory skin disorders. Sources: Literature
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 35119134
Phenotypes for gene: GNB1 were set to Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42
Mode of pathogenicity for gene: GNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB1 was set to GREEN
Added comment: 5 cases reported with cutaneous mastocytosis and a de novo missense variant (mostly recurrent). Although rare feature (to date reported ~60 cases with GNB1-related disorder), enough evidence for green rating due to mastocytosis.
Sources: Literature
Renal tubulopathies v4.3 RMND1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: RMND1.
Tag Q3_23_NHS_review tag was added to gene: RMND1.
Renal tubulopathies v4.3 RMND1 Achchuthan Shanmugasundram Classified gene: RMND1 as Amber List (moderate evidence)
Renal tubulopathies v4.3 RMND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next GMS review.
Renal tubulopathies v4.3 RMND1 Achchuthan Shanmugasundram Gene: rmnd1 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v4.2 RMND1 Achchuthan Shanmugasundram Phenotypes for gene: RMND1 were changed from tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy to Combined oxidative phosphorylation deficiency 11, OMIM:614922; tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy
Renal tubulopathies v4.1 RMND1 Achchuthan Shanmugasundram changed review comment from: PMID:31568715 - Four patients identified with pathogenic variants in RMND1 were reported with renal disease characterised by tubulopathy (3/4), renal tubular acidosis (2/4), interstitial nephritis (1/4), and/or end-stage renal disease (4/4) necessitating renal transplantation (2/4).

PMID:31889854 - A very rare homozygous pathogenic variant in RMND1 (p.Val211Met) was identified in a patient presenting with chronic kidney disease (CKD) and sensorineural hearing loss (SNHL).

PMID:32911714 - Compound heterozygous missense variants in RMND1 (p.Gly195Arg & p.Tyr273Ser) was identified in female siblings presenting with severe-to-profound bilateral SNHL, ovarian dysfunction and CKD that developed in the fourth decade of life.; to: PMID:31568715 - Four patients identified with pathogenic variants in RMND1 were reported with renal disease characterised by tubulopathy (3/4), renal tubular acidosis (2/4), interstitial nephritis (1/4), and/or end-stage renal disease (4/4) necessitating renal transplantation (2/4).

PMID:31889854 - A very rare homozygous pathogenic variant in RMND1 (p.Val211Met) was identified in a patient presenting with chronic kidney disease (CKD) and sensorineural hearing loss (SNHL).

PMID:32911714 - Compound heterozygous missense variants in RMND1 (p.Gly195Arg & p.Tyr273Ser) was identified in female siblings presenting with severe-to-profound bilateral SNHL, ovarian dysfunction and CKD that developed in the fourth decade of life.

This gene has been associated with relevant phenotypes in both OMIM (MIM #614922) and Gene2Phenotype. The clinical manifestations such as cystic kidneys, renal tubular acidosis and renal disease have been recorded as part of the OMIM phenotype.
Renal tubulopathies v4.1 RMND1 Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31568715, 31889854, 32911714; Phenotypes: Combined oxidative phosphorylation deficiency 11, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MPDZ.
Tag Q3_23_NHS_review tag was added to gene: MPDZ.
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Classified gene: MPDZ as Amber List (moderate evidence)
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases and supporting functional evidence available for the association of this gene with this panel and hence this gene can be promoted to green rating at the next GMS review.
Retinal disorders v4.23 MPDZ Achchuthan Shanmugasundram Gene: mpdz has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.22 MPDZ Achchuthan Shanmugasundram Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Retinal disorders v4.21 MPDZ Achchuthan Shanmugasundram Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029
Retinal disorders v4.20 MPDZ Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 36429029, 36594712; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v4.10 HIKESHI Achchuthan Shanmugasundram Tag watchlist was removed from gene: HIKESHI.
Tag Q3_23_promote_green tag was added to gene: HIKESHI.
Tag Q3_23_NHS_review tag was added to gene: HIKESHI.
Optic neuropathy v4.10 HIKESHI Achchuthan Shanmugasundram Classified gene: HIKESHI as Amber List (moderate evidence)
Optic neuropathy v4.10 HIKESHI Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) available now for promoting this gene to green rating at the next GMS review.
Optic neuropathy v4.10 HIKESHI Achchuthan Shanmugasundram Gene: hikeshi has been classified as Amber List (Moderate Evidence).
Optic neuropathy v4.9 HIKESHI Achchuthan Shanmugasundram Publications for gene: HIKESHI were set to 26545878; 28000699
Severe insulin resistance and lipodystrophy syndromes v4.15 PCNT Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Severe insulin resistance in the absence of frank lipodystrophy is a common feature of Microcephalic osteodysplastic primordial dwarfism, type II due to PCNT mutations (PMID: 21270239). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Severe insulin resistance in the absence of frank lipodystrophy is a common feature of Microcephalic osteodysplastic primordial dwarfism, type II due to PCNT mutations (PMID: 21270239). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Classified gene: ALMS1 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.15 ALMS1 Achchuthan Shanmugasundram Gene: alms1 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.14 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Changed phenotypes to: Alstrom syndrome, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.14 ALMS1 Achchuthan Shanmugasundram Phenotypes for gene: ALMS1 were changed from BIALLELIC, autosomal or pseudoautosomal to Alstrom syndrome, OMIM:203800
Severe insulin resistance and lipodystrophy syndromes v4.13 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Changed phenotypes to: Almstrom syndrome, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.13 ALMS1 Achchuthan Shanmugasundram Publications for gene: ALMS1 were set to
Severe insulin resistance and lipodystrophy syndromes v4.12 ALMS1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ALMS1.
Tag Q3_23_NHS_review tag was added to gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.12 ALMS1 Achchuthan Shanmugasundram edited their review of gene: ALMS1: Added comment: Among 12 unrelated cases with Alstrom syndrome, 10 were identified with ALMS1 variants, of which five had potential founder variant in exon 16. These AS patients had severe early-onset obesity, insulin resistance that increased with age, diabetes, hypertriglyceridemia, and hypertension (PMID:16720663).

Evaluation of 38 patients with AS and matched controls showed that frequent abnormalities include obesity, severe insulin resistance, type 2 diabetes mellitus and adult hypogonadism (PMID:29718281).

This gene has been associated with AS in both OMIM (MIM #203800) and Gene2Phenotype (definitive rating).; Changed rating: GREEN; Changed publications to: 16720663, 29718281, 32958032
Severe insulin resistance and lipodystrophy syndromes v4.12 ALMS1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Severe insulin resistance and its metabolic sequalae are common in Almstrom syndrome (PMID: 32958032, 16720663) which is disproportionate to their adiposity (PMID: 29718281). Along with PCNT and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Severe insulin resistance and its metabolic sequalae are common in Almstrom syndrome (PMID: 32958032, 16720663) which is disproportionate to their adiposity (PMID: 29718281). Along with PCNT and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Severe insulin resistance and lipodystrophy syndromes v4.12 BLM Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/174/gene/BLM/#!details), partial lipodystrophy and insulin resistance is a recognised clinical feature of bloom syndrome (PMID: 21536711, 29477938, 16763388) and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/174/gene/BLM/#!details), partial lipodystrophy and insulin resistance is a recognised clinical feature of bloom syndrome (PMID: 21536711, 29477938, 16763388) and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).
Intellectual disability v5.230 LETM1 Sarah Leigh Entity copied from Ataxia and cerebellar anomalies - narrow panel v4.27
Intellectual disability v5.230 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Expert Review
Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: LETM1.
Optic neuropathy v4.8 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.41
Optic neuropathy v4.8 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Optic neuropathy. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Ataxia and cerebellar anomalies - childhood onset v4.27 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.41
Ataxia and cerebellar anomalies - childhood onset v4.27 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Early onset or syndromic epilepsy v4.77 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.41
Early onset or syndromic epilepsy v4.77 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Early onset or syndromic epilepsy. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh edited their review of gene: LETM1: Added comment: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: LETM1.
Tag Q3_23_MOI tag was added to gene: LETM1.
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh Classified gene: LETM1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder, nuclear genes v3.41 LETM1 Sarah Leigh Gene: letm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.71 LETM1 Sarah Leigh Publications for gene: LETM1 were set to 36055214
Laterality disorders and isomerism v3.4 LETM1 Sarah Leigh Publications for gene: LETM1 were set to
Possible mitochondrial disorder, nuclear genes v3.40 LETM1 Sarah Leigh Publications for gene: LETM1 were set to
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Classified gene: WRN as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases) in support of the association of this gene to severe insulin resistance/ diabetes and partial lipodystrophy and hence can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.12 WRN Achchuthan Shanmugasundram Gene: wrn has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.11 WRN Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: WRN.
Tag Q3_23_NHS_review tag was added to gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.11 WRN Achchuthan Shanmugasundram Phenotypes for gene: WRN were changed from Werner's Syndrome, partial lipodystrophy, severe insulin resistance to Werner syndrome, OMIM:277700
Severe insulin resistance and lipodystrophy syndromes v4.10 WRN Achchuthan Shanmugasundram Publications for gene: WRN were set to
Severe insulin resistance and lipodystrophy syndromes v4.9 WRN Achchuthan Shanmugasundram edited their review of gene: WRN: Added comment: PMID:22654791 - A homozygous variant (p.Arg732Xaa) in WRN gene has been identified in a 16-year-old female patient with a syndrome comprising short stature, severe insulin resistance, ptosis, and microcephaly.

PMID:23849162 - Biallelic WRN null variants (p.Gln748Xaa homozygous, and compound heterozygous p.Gln1257Xaa/ p.Met1329fs) were identified in two female patients who presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them also had diabetes.

PMID:35780059 - Compound heterozygous variants (c.1290_1293del/ p.Asn430Lysfs*7 & c.2732+5G>A) in WRN gene was identified in a 28 year-old woman who presented with early onset diabetes associated with partial lipodystrophy, severe dyslipidaemia and rapidly progressive liver fibrosis related to non-alcoholic steatohepatitis in the absence of progeroid features.

This gene has been associated with Werner syndrome in both OMIM (MIM #277700) and Gene2Phenotype.; Changed rating: GREEN; Changed publications to: 22654791, 23849162, 27710244, 35780059
Laterality disorders and isomerism v3.3 LETM1 Sarah Leigh Mode of inheritance for gene: LETM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v3.2 LETM1 Sarah Leigh Phenotypes for gene: LETM1 were changed from to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Possible mitochondrial disorder, nuclear genes v3.39 LETM1 Sarah Leigh Phenotypes for gene: LETM1 were changed from 620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Severe insulin resistance and lipodystrophy syndromes v4.9 WRN Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Premature insulin resistant diabetes is widely recognised as a complication of Werner's syndrome and lipoatrophy is commonly reported. Crucially - 3 independent pedigrees have now reported lipodystrophy and/or severe insulin resistance as presenting features of Werner's syndrome highlighting that this condition needs to be considered in the differential diagnosis of lipodystrophy (PMID: 22654791, 35780059, 23849162). It has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
Premature insulin resistant diabetes is widely recognised as a complication of Werner's syndrome and lipoatrophy is commonly reported. Crucially - 3 independent pedigrees have now reported lipodystrophy and/or severe insulin resistance as presenting features of Werner's syndrome highlighting that this condition needs to be considered in the differential diagnosis of lipodystrophy (PMID: 22654791, 35780059, 23849162). It has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Classified gene: AKT2 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Added comment: Comment on list classification: Two unrelated cases and supporting functional evidence from mouse models suggest that this gene can be promoted to green rating in the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.9 AKT2 Achchuthan Shanmugasundram Gene: akt2 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.8 AKT2 Achchuthan Shanmugasundram Publications for gene: AKT2 were set to 15166380; 17327441
Severe insulin resistance and lipodystrophy syndromes v4.7 AKT2 Achchuthan Shanmugasundram Mode of inheritance for gene: AKT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v4.6 AKT2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AKT2.
Tag Q3_23_NHS_review tag was added to gene: AKT2.
Severe insulin resistance and lipodystrophy syndromes v4.6 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: PMID:15166380 - A missense variant (p.Arg274His) in AKT2 gene was identified in a family with autosomal dominant severe insulin resistance, diabetes mellitus and partial lipodystrophy.

PMID:17327441 - Of 94 probands with severe insulin resistance (35 of which had partial lipodystrophy) that were screened for AKT2 variants, one female identified with p.Arg467Trp variant was reported with type 2 diabetes and partial lipodystrophy, while another female identified with p.Arg208Lys variant had severe insulin resistance and acanthosis nigricans. p.Arg467Trp was present in neither 47 ethnically matched control subjects nor in 2 unaffected sons of the carrier. p.Arg208Lys variant was not present in her affected son but was present in 1 of 47 white control subjects.

PMID:12843127 - Functional studies in mice showed that loss of AKT2 results in severe diabetes, age-dependent lipoatrophy and mild growth deficiency.; Changed rating: GREEN; Changed publications to: 12843127, 15166380, 17327441, 27710244
Optic neuropathy v4.7 MCAT Hannah Knight reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33918393; Phenotypes: Hereditary optic neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v4.7 MCAT Hannah Knight Deleted their review
Optic neuropathy v4.7 MCAT Hannah Knight reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33918393; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.6 PIK3R1 Achchuthan Shanmugasundram Classified gene: PIK3R1 as Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.6 PIK3R1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with lipodystrophy and insulin resistance and hence this gene can be promoted to green rating at the next GMS review.
Severe insulin resistance and lipodystrophy syndromes v4.6 PIK3R1 Achchuthan Shanmugasundram Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Severe insulin resistance and lipodystrophy syndromes v4.5 PIK3R1 Achchuthan Shanmugasundram Phenotypes for gene: PIK3R1 were changed from SHORT syndrome, partial lipodystrophy, severe insulin resistance to SHORT syndrome, OMIM:269880
Severe insulin resistance and lipodystrophy syndromes v4.4 PIK3R1 Achchuthan Shanmugasundram Publications for gene: PIK3R1 were set to
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: PIK3R1.
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PIK3R1.
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram edited their review of gene: PIK3R1: Added comment: PMID:23810378 - Nine affected individuals from eight different families were identified with de novo or inherited PIK3R1 variants, including a mutational hotspot (c.1945C>T/ p.Arg649Trp) present in four families. Insulin resistance was present in seven individuals and lipoatrophy was present in 3 individuals.

PMID:26497935 - Clinical reappraisal of detailed phenotypes of 32 individuals with PIK3R1-associated SHORT syndrome showed that IUGR <= 3rd percentile (19/25), postnatal growth retardation (height < -2SD, 25/31), lipoatrophy (26/29), factual dysmorphism (all 32 cases) and insulin resistance (13/17) are the main features of this disease.

PMID:27766312 - Five patients were reported with SHORT syndrome and C-terminal variants in PIK3R1, of which four had extreme insulin resistance without dyslipidemia or hepatic steatosis.

This gene has been associated with relevant phenotypes in both OMIM (MIM #269880) and Gene2Phenotype ('definitive' rating in the DD panel). Both lipoatrophy (lower face, upper limb, buttock) and insulin resistance diabetes has been associated as clinical manifestations of this OMIM phenotype for SHORT syndrome.; Changed rating: GREEN; Changed publications to: 23810378, 26497935, 27710244, 27766312
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service. Below are the comments from NHS:
PanelApp expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244). SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!); to: This gene was added on recommendation of NHSE Genomic Medicine Service. Below are the comments from NHS:

PanelApp expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).

SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!)
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service:
PanelApp expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244). SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!); to: This gene was added on recommendation of NHSE Genomic Medicine Service. Below are the comments from NHS:
PanelApp expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244). SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!)
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: Panel app expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244). SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!); to: This gene was added on recommendation of NHSE Genomic Medicine Service:
PanelApp expert review green (https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!), Co-segregates with disease in multiple independent pedigrees (PMID: 27766312, 23810378, 26497935), its gene product is a member of the canonical insulin signalling cascade and has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244). SHORT syndrome appears to be caused by C-Terminal mutations affecting the SH2 domain, suggesting a mechanism other than simple loss of function (see Prof Rob Semple's review in Panel app @ https://panelapp.genomicsengland.co.uk/panels/174/gene/PIK3R1/#!)
Severe insulin resistance and lipodystrophy syndromes v4.3 CIDEC Achchuthan Shanmugasundram reviewed gene: CIDEC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Partial Lipodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 AKT2 Achchuthan Shanmugasundram reviewed gene: AKT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe insulin resistance, familial partial lipodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v4.3 PSMA3 Achchuthan Shanmugasundram reviewed gene: PSMA3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 PSMB4 Achchuthan Shanmugasundram reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 PSMB8 Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 EPHX1 Achchuthan Shanmugasundram reviewed gene: EPHX1: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: Lipodystrophy, Severe Insulin Resistance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v4.3 MFN2 Achchuthan Shanmugasundram reviewed gene: MFN2: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 POC1A Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: SOFT syndrome, Severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 PCYT1A Achchuthan Shanmugasundram reviewed gene: PCYT1A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, Congenital lipodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 PCNT Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, Severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 ALMS1 Achchuthan Shanmugasundram reviewed gene: ALMS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 BLM Achchuthan Shanmugasundram reviewed gene: BLM: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom Syndrome, severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 WRN Achchuthan Shanmugasundram reviewed gene: WRN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner's Syndrome, partial lipodystrophy, severe insulin resistance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.3 PIK3R1 Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: SHORT syndrome, partial lipodystrophy, severe insulin resistance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes v4.2 PSMA3 Achchuthan Shanmugasundram gene: PSMA3 was added
gene: PSMA3 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PSMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMA3 were set to Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome)
Severe insulin resistance and lipodystrophy syndromes v4.2 PSMB4 Achchuthan Shanmugasundram gene: PSMB4 was added
gene: PSMB4 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB4 were set to Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome)
Severe insulin resistance and lipodystrophy syndromes v4.2 PSMB8 Achchuthan Shanmugasundram gene: PSMB8 was added
gene: PSMB8 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome)
Severe insulin resistance and lipodystrophy syndromes v4.2 EPHX1 Achchuthan Shanmugasundram gene: EPHX1 was added
gene: EPHX1 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPHX1 were set to Lipodystrophy, Severe Insulin Resistance
Mode of pathogenicity for gene: EPHX1 was set to Other
Severe insulin resistance and lipodystrophy syndromes v4.2 MFN2 Achchuthan Shanmugasundram gene: MFN2 was added
gene: MFN2 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to MFN2-associated multiple lipomatosis, lipodystrophy, severe insulin resistance, axonal sensorimotor neuropathy
Mode of pathogenicity for gene: MFN2 was set to Other
Severe insulin resistance and lipodystrophy syndromes v4.2 POC1A Achchuthan Shanmugasundram gene: POC1A was added
gene: POC1A was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to SOFT syndrome, Severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.2 PCYT1A Achchuthan Shanmugasundram gene: PCYT1A was added
gene: PCYT1A was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, Congenital lipodystrophy
Severe insulin resistance and lipodystrophy syndromes v4.2 PCNT Achchuthan Shanmugasundram gene: PCNT was added
gene: PCNT was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, Severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.2 ALMS1 Achchuthan Shanmugasundram gene: ALMS1 was added
gene: ALMS1 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes v4.2 BLM Achchuthan Shanmugasundram gene: BLM was added
gene: BLM was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom Syndrome, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.2 WRN Achchuthan Shanmugasundram gene: WRN was added
gene: WRN was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner's Syndrome, partial lipodystrophy, severe insulin resistance
Severe insulin resistance and lipodystrophy syndromes v4.2 PIK3R1 Achchuthan Shanmugasundram gene: PIK3R1 was added
gene: PIK3R1 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome, partial lipodystrophy, severe insulin resistance
Mode of pathogenicity for gene: PIK3R1 was set to Other
Insulin resistance (including lipodystrophy) v1.16 PIK3R1 Achchuthan Shanmugasundram Deleted their review
Insulin resistance (including lipodystrophy) v1.16 PIK3R1 Achchuthan Shanmugasundram edited their review of gene: PIK3R1: Changed mode of pathogenicity: Other
Insulin resistance (including lipodystrophy) v1.16 PIK3R1 Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v3.38 IDH3A Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: IDH3A.
Possible mitochondrial disorder, nuclear genes v3.38 CRLS1 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: CRLS1.
Possible mitochondrial disorder, nuclear genes v3.38 C2orf69 Sarah Leigh Phenotypes for gene: C2orf69 were changed from Combined oxidative phosphorylation deficiency 53, OMIM:619423 to Combined oxidative phosphorylation deficiency 53, OMIM:619423; combined oxidative phosphorylation deficiency 53, MONDO:0030378
Possible mitochondrial disorder, nuclear genes v3.37 C2orf69 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: C2orf69.
Mitochondrial disorders v4.70 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Early onset or syndromic epilepsy v4.76 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Likely inborn error of metabolism v4.44 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Fetal anomalies v3.98 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Mitochondrial disorder with complex V deficiency v2.6 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Possible mitochondrial disorder, nuclear genes v3.37 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Possible mitochondrial disorder, nuclear genes v3.36 ATP5O Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: ATP5O.
Intellectual disability v5.229 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Structural eye disease v3.4 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to 29100093
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.172 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to 29100094; 29100093
Fetal anomalies v3.97 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Pneumothorax - familial v3.3 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Pneumothorax - familial v3.2 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Structural eye disease v3.3 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Intellectual disability v5.228 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.171 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome 612289; Gorlin-Chaudhry-Moss to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Added comment: Comment on phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC25A24.
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least nine unrelated cases.; to: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least nine unrelated cases, together with supportive functional studies (PMID: 29100094; 29100093).
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh edited their review of gene: SLC25A24: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Classified gene: SLC25A24 as Amber List (moderate evidence)
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.67 SLC25A24 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC25A24.
Mitochondrial disorders v4.67 SLC25A20 Sarah Leigh Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Classified gene: SLC25A20 as Amber List (moderate evidence)
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Gene: slc25a20 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC25A20.
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh edited their review of gene: SLC25A20: Added comment: SLC25A20 variants have been associated with Carnitine-acylcarnitine translocase deficiency in OMIM and as definitive Gen2Phen gene for the same condition. Numerous variants have been reported in unrelated cases.; Changed rating: GREEN
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh Phenotypes for gene: SLC25A20 were changed from Carnitine-acylcarnitine translocase deficiency, 212138 to Carnitine-acylcarnitine translocase deficiency, OMIM:212138; carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Mitochondrial disorders v4.64 SLC25A20 Sarah Leigh Publications for gene: SLC25A20 were set to
Mitochondrial disorders v4.63 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Mitochondrial disorders v4.63 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941; 28857146
Mitochondrial disorders v4.62 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v3.6 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v3.5 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few instances have been reported in cases carrying heterozygous SLC22A5 variants (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Acute rhabdomyolysis v1.12 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 29895548
Acute rhabdomyolysis v1.11 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Acute rhabdomyolysis v1.11 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.227 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10425211; 15714519; 10480371; 9700603; 2235122; 20027113; 9634512; 11058897; 3974805; 10051646
Intellectual disability v5.227 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Intellectual disability v5.227 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.7 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
DDG2P v3.7 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805
DDG2P v3.6 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.95 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.36 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Possible mitochondrial disorder, nuclear genes v3.35 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.35 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.43 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252
Likely inborn error of metabolism v4.42 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Likely inborn error of metabolism v4.42 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from DCM; Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; HCM, mixed; Carnitine transporter deficiency (primary carnitine deficiency) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Short QT syndrome v3.5 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency; Carnitine deficiency, systemic primary 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Undiagnosed metabolic disorders v1.595 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Acute rhabdomyolysis v1.11 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Intellectual disability v5.226 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Likely inborn error of metabolism v4.42 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Fetal anomalies v3.93 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Possible mitochondrial disorder, nuclear genes v3.34 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Undiagnosed metabolic disorders v1.594 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Propionicacidemia to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Undiagnosed metabolic disorders v1.593 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.592 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Undiagnosed metabolic disorders v1.592 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperammonaemia v1.20 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Propionicacidemia 606054 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Rhabdomyolysis and metabolic muscle disorders v3.7 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Rhabdomyolysis and metabolic muscle disorders v3.6 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Rhabdomyolysis and metabolic muscle disorders v3.6 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 25929793
Rhabdomyolysis and metabolic muscle disorders v3.5 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperammonaemia v1.19 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Hyperammonaemia v1.18 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Hyperammonaemia v1.18 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Deleted their comment
Short QT syndrome v3.4 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 7254270; 7131143; 26190315; 29198778
Short QT syndrome v3.3 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few instances have been reported in cases carrying heterozygous SLC22A5 variants (PMID: 10545605; 11261427).; Changed publications to: 10545605, 11261427
Short QT syndrome v3.3 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Deleted their comment
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be change from monoallelic to biallelic at the next major review of the panel.
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance is being changed from Monoallelic to Biallelic, as there is no published evidence for monoallelic inheritance of conditions associated with variants in SLC22A5 (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen).
Short QT syndrome v3.3 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 24816252; 27604308
Optic neuropathy v4.7 LHX2 Sarah Leigh edited their review of gene: LHX2: Changed rating: GREEN
Optic neuropathy v4.7 LHX2 Sarah Leigh Classified gene: LHX2 as Amber List (moderate evidence)
Optic neuropathy v4.7 LHX2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Optic neuropathy v4.7 LHX2 Sarah Leigh Gene: lhx2 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v4.6 LHX2 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: LHX2.
Optic neuropathy v4.6 LHX2 Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominantly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants.
Seven out of the ten cases reported in table 1 (PMID: 37057675) are listed as having microcephaly, however, due to lack of clinical information, these cases cannot be classified as severe (personal communication with the author, Christiane Zweier).
Sources: Literature; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominantly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants.
Nine out of the thirteen cases reported in table 1 (PMID: 37057675) are listed as having Ophthalmologic abnormalities including macular degeneration, optic neuropathy, and esotropia.
Sources: Literature
Optic neuropathy v4.6 LHX2 Sarah Leigh Entity copied from Severe microcephaly v4.28
Optic neuropathy v4.6 LHX2 Sarah Leigh gene: LHX2 was added
gene: LHX2 was added to Optic neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX2 were set to 37057675
Phenotypes for gene: LHX2 were set to neurodevelopmental disorder
Hypogonadotropic hypogonadism (GMS) v3.4 SOX11 Achchuthan Shanmugasundram Classified gene: SOX11 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v3.4 SOX11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) to promote this gene to green rating at the next major update.
Hypogonadotropic hypogonadism (GMS) v3.4 SOX11 Achchuthan Shanmugasundram Gene: sox11 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v3.3 SOX11 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SOX11.
Hypogonadotropic hypogonadism (GMS) v3.3 SOX11 Achchuthan Shanmugasundram gene: SOX11 was added
gene: SOX11 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 35341651
Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Review for gene: SOX11 was set to GREEN
Added comment: PMID:35341651 reported 38 unrelated patients with SOX11 variants and idiopathic hypogonadotropic hypogonadism was confirmed as a feature of the intellectual developmental disorder phenotype in eight of these patients. In addition, 3 of 15 cases that were previously reported and reviewed in this publication also had hypogonadotropic hypogonadism.

This gene has been associated with neurodevelopmental disorder phenotypes in both OMIM (MIM #615866) and Gene2Phenotype (with 'definitive' rating in the DD panel) and hypogonadotropic hypogonadism was reported as one of the clinical manifestations in OMIM.
Sources: Literature
Ataxia and cerebellar anomalies - childhood onset v4.26 AGTPBP1 Achchuthan Shanmugasundram Classified gene: AGTPBP1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - childhood onset v4.26 AGTPBP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major update.
Ataxia and cerebellar anomalies - childhood onset v4.26 AGTPBP1 Achchuthan Shanmugasundram Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v4.25 AGTPBP1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
Ataxia and cerebellar anomalies - childhood onset v4.25 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had ataxia and all patients had cerebellar atrophy. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature
Intellectual disability v5.225 AGTPBP1 Achchuthan Shanmugasundram Classified gene: AGTPBP1 as Amber List (moderate evidence)
Intellectual disability v5.225 AGTPBP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major update.
Intellectual disability v5.225 AGTPBP1 Achchuthan Shanmugasundram Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.224 AGTPBP1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
Intellectual disability v5.224 AGTPBP1 Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature
Intellectual disability v5.224 AGTPBP1 Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature
Hereditary neuropathy or pain disorder v3.45 AGTPBP1 Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had (axonal) motor neuropathy.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Five unrelated patients had (axonal) motor neuropathy. In addition, functional studies with mouse models have recapitulated the human phenotype.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Intellectual disability v5.224 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact.

This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating).
Sources: Literature
Hereditary spastic paraplegia, adult onset v3.15 Eleanor Williams Panel version 3.14 has been signed off on 2023-07-31
Neurodegenerative disorders, adult onset v4.35 Eleanor Williams Panel version 4.34 has been signed off on 2023-07-31
Dystonia, chorea or related movement disorder, adult onset v3.13 Eleanor Williams Panel version 3.12 has been signed off on 2023-07-31
Hereditary spastic paraplegia, adult onset v3.14 ATXN10_ATTCT Eleanor Williams commented on STR: ATXN10_ATTCT
Hereditary spastic paraplegia, adult onset v3.14 ATXN10_ATTCT Eleanor Williams Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary spastic paraplegia, adult onset v3.14 ATXN10_ATTCT Eleanor Williams Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, adult onset v3.13 ATXN10_ATTCT Eleanor Williams Tag watchlist was removed from STR: ATXN10_ATTCT.
Tag Q3_23_promote_green was removed from STR: ATXN10_ATTCT.
Neurodegenerative disorders, adult onset v4.34 TBP_CAG Eleanor Williams commented on STR: TBP_CAG
Neurodegenerative disorders, adult onset v4.34 TBP_CAG Eleanor Williams Classified STR: TBP_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v4.34 TBP_CAG Eleanor Williams Str: tbp_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v4.33 TBP_CAG Eleanor Williams Tag watchlist was removed from STR: TBP_CAG.
Tag Q3_23_promote_green was removed from STR: TBP_CAG.
Neurodegenerative disorders, adult onset v4.33 JPH3_CTG Eleanor Williams commented on STR: JPH3_CTG
Neurodegenerative disorders, adult onset v4.33 JPH3_CTG Eleanor Williams Classified STR: JPH3_CTG as Green List (high evidence)
Neurodegenerative disorders, adult onset v4.33 JPH3_CTG Eleanor Williams Str: jph3_ctg has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v4.32 JPH3_CTG Eleanor Williams Tag watchlist was removed from STR: JPH3_CTG.
Tag Q3_23_promote_green was removed from STR: JPH3_CTG.
Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams commented on STR: ATN1_CAG
Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams Classified STR: ATN1_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams Str: atn1_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v4.31 ATN1_CAG Eleanor Williams Tag watchlist was removed from STR: ATN1_CAG.
Tag Q3_23_promote_green was removed from STR: ATN1_CAG.
Dystonia, chorea or related movement disorder, adult onset v3.12 PPP2R2B_CAG Eleanor Williams commented on STR: PPP2R2B_CAG
Dystonia, chorea or related movement disorder, adult onset v3.12 PPP2R2B_CAG Eleanor Williams Classified STR: PPP2R2B_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.12 PPP2R2B_CAG Eleanor Williams Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.11 PPP2R2B_CAG Eleanor Williams Tag watchlist was removed from STR: PPP2R2B_CAG.
Tag Q3_23_promote_green was removed from STR: PPP2R2B_CAG.
Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams commented on STR: CSTB_CCCCGCCCCGCG
Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.10 CSTB_CCCCGCCCCGCG Eleanor Williams Tag watchlist was removed from STR: CSTB_CCCCGCCCCGCG.
Tag Q3_23_promote_green was removed from STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v3.10 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG: The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, adult onset v3.10 CACNA1A_CAG Eleanor Williams Classified STR: CACNA1A_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.10 CACNA1A_CAG Eleanor Williams Str: cacna1a_cag has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.9 CACNA1A_CAG Eleanor Williams Tag watchlist was removed from STR: CACNA1A_CAG.
Tag Q3_23_promote_green was removed from STR: CACNA1A_CAG.
Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG: The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams Classified STR: ATXN3_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams Str: atxn3_cag has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.8 ATXN3_CAG Eleanor Williams Tag watchlist was removed from STR: ATXN3_CAG.
Tag Q3_23_promote_green was removed from STR: ATXN3_CAG.
Segmental overgrowth disorders - Deep sequencing v3.7 GJA4 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update.

A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. The same somatic variant has been found in at least three unrelated cases with cutaneous lesions which plausibly could be referred via this panel. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update.

A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel.
Dystonia, chorea or related movement disorder, adult onset v3.8 ATXN2_CAG Eleanor Williams commented on STR: ATXN2_CAG
Dystonia, chorea or related movement disorder, adult onset v3.8 ATXN2_CAG Eleanor Williams Classified STR: ATXN2_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.8 ATXN2_CAG Eleanor Williams Str: atxn2_cag has been classified as Green List (High Evidence).
Segmental overgrowth disorders - Deep sequencing v3.7 GJA4 Arina Puzriakova Tag Q3_23_NHS_review was removed from gene: GJA4.
Dystonia, chorea or related movement disorder, adult onset v3.7 ATXN2_CAG Eleanor Williams Tag watchlist was removed from STR: ATXN2_CAG.
Tag Q3_23_promote_green was removed from STR: ATXN2_CAG.
Segmental overgrowth disorders - Deep sequencing v3.7 GJA4 Arina Puzriakova Entity copied from Mosaic skin disorders - deep sequencing v2.14