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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
DDG2P v3.10 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
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
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.
DDG2P v3.9 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to
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
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
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).
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
DDG2P v3.6 MAP4K4 Irina Ziravecka gene: MAP4K4 was added
gene: MAP4K4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to PMID: 37126546
Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies
Mode of pathogenicity for gene: MAP4K4 was set to Other
Review for gene: MAP4K4 was set to GREEN
Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4.
Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects."
Sources: Literature
DDG2P v3.6 AMOTL1 Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay
DDG2P v3.6 AMOTL1 Irina Ziravecka Deleted their comment
DDG2P v3.6 AMOTL1 Irina Ziravecka changed review comment from: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other; to: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.
DDG2P v3.6 AMOTL1 Irina Ziravecka gene: AMOTL1 was added
gene: AMOTL1 was added to DDG2P. Sources: Other
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to PMID: 36751037
Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature
Mode of pathogenicity for gene: AMOTL1 was set to Other
Review for gene: AMOTL1 was set to GREEN
Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other
DDG2P v3.6 ETFB Sarah Leigh Publications for gene: ETFB were set to
DDG2P v3.5 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v3.4 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v3.3 COASY Sarah Leigh Publications for gene: COASY were set to 24360804
DDG2P v3.2 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG: Removed the Q3_21_rating and Q3_21_expert_review tags because this STR is green on other component panels of the Paediatric disorders superpanel and so does not need to be green here.
DDG2P v3.2 DMPK_CTG Eleanor Williams Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
DDG2P v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2023-03-22
DDG2P v3.1 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
DDG2P v3.1 CRIM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1.
DDG2P v3.1 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
DDG2P v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
DDG2P v3.0 Catherine Snow promoted panel to version 3.0
DDG2P v2.84 HNRNPR Eleanor Williams commented on gene: HNRNPR
DDG2P v2.84 HNRNPR Eleanor Williams Phenotypes for gene: HNRNPR were changed from INTELLECTUAL DISABILITY 616579 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
DDG2P v2.83 HNRNPR Eleanor Williams Tag gene-checked was removed from gene: HNRNPR.
DDG2P v2.83 DDX58 Eleanor Williams commented on gene: DDX58
DDG2P v2.83 DDX58 Eleanor Williams Tag new-gene-name tag was added to gene: DDX58.
DDG2P v2.83 FAM126A Eleanor Williams commented on gene: FAM126A
DDG2P v2.83 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
DDG2P v2.83 ROR2 Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700; BRACHYDACTYLY, TYPE B1 113000; ROR2-RELATED DISORDERS AR 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
DDG2P v2.82 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE 131300 to Camurati-Engelmann disease, OMIM:131300
DDG2P v2.81 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 17120046
DDG2P v2.80 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
DDG2P v2.79 KDM3B Sarah Leigh Phenotypes for gene: KDM3B were changed from Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012
DDG2P v2.78 TERC Eleanor Williams commented on gene: TERC
DDG2P v2.78 RMRP Eleanor Williams commented on gene: RMRP
DDG2P v2.78 COL6A1 Eleanor Williams commented on gene: COL6A1
DDG2P v2.78 EMC1 Eleanor Williams commented on gene: EMC1
DDG2P v2.78 RAB11A Eleanor Williams commented on gene: RAB11A
DDG2P v2.78 CNKSR2 Eleanor Williams commented on gene: CNKSR2
DDG2P v2.78 TPP2 Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.
DDG2P v2.78 TPP2 Eleanor Williams commented on gene: TPP2
DDG2P v2.78 RAP1GDS1 Eleanor Williams Tag curated_removed tag was added to gene: RAP1GDS1.
DDG2P v2.78 RAP1GDS1 Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.
DDG2P v2.78 TAF4 Eleanor Williams commented on gene: TAF4
DDG2P v2.78 TAF4 Eleanor Williams Tag curated_removed tag was added to gene: TAF4.
DDG2P v2.78 TAF4 Eleanor Williams Classified gene: TAF4 as No list
DDG2P v2.78 TAF4 Eleanor Williams Gene: taf4 has been removed from the panel.
DDG2P v2.77 RPGRIP1 Eleanor Williams commented on gene: RPGRIP1
DDG2P v2.77 RASA1 Eleanor Williams commented on gene: RASA1
DDG2P v2.77 RAP1GDS1 Eleanor Williams commented on gene: RAP1GDS1
DDG2P v2.77 MYH6 Eleanor Williams changed review comment from: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel.; to: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel. Q3_22 tags added to flag it only.
DDG2P v2.77 MYH6 Eleanor Williams Tag Q3_22_rating tag was added to gene: MYH6.
Tag Q3_22_expert_review tag was added to gene: MYH6.
DDG2P v2.77 KPNA3 Eleanor Williams Tag curated_removed tag was added to gene: KPNA3.
DDG2P v2.77 KPNA3 Eleanor Williams Classified gene: KPNA3 as No list
DDG2P v2.77 KPNA3 Eleanor Williams Gene: kpna3 has been removed from the panel.
DDG2P v2.76 HYDIN Dmitrijs Rots reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.76 PMS2 Eleanor Williams commented on gene: PMS2
DDG2P v2.76 MYH6 Eleanor Williams commented on gene: MYH6
DDG2P v2.76 KPNA3 Eleanor Williams commented on gene: KPNA3
DDG2P v2.76 DSPP Eleanor Williams commented on gene: DSPP
DDG2P v2.76 BFSP2 Eleanor Williams commented on gene: BFSP2
DDG2P v2.76 ATG7 Eleanor Williams commented on gene: ATG7
DDG2P v2.76 AR Eleanor Williams Tag Q3_22_rating tag was added to gene: AR.
Tag Q3_22_expert_review tag was added to gene: AR.
DDG2P v2.76 AR Eleanor Williams commented on gene: AR
DDG2P v2.76 XPNPEP3 Eleanor Williams commented on gene: XPNPEP3
DDG2P v2.76 XPNPEP3 Eleanor Williams Tag Q1_22_rating was removed from gene: XPNPEP3.
DDG2P v2.76 TMEM260 Eleanor Williams commented on gene: TMEM260
DDG2P v2.76 TMEM260 Eleanor Williams Tag Q4_21_rating was removed from gene: TMEM260.
DDG2P v2.76 PEX6 Eleanor Williams commented on gene: PEX6
DDG2P v2.76 PEX6 Eleanor Williams Tag Q1_22_MOI was removed from gene: PEX6.
DDG2P v2.76 FBN2 Eleanor Williams commented on gene: FBN2
DDG2P v2.76 FBN2 Eleanor Williams Tag Q2_21_MOI was removed from gene: FBN2.
DDG2P v2.76 EDNRB Eleanor Williams commented on gene: EDNRB
DDG2P v2.76 CLP1 Eleanor Williams commented on gene: CLP1
DDG2P v2.76 CLP1 Eleanor Williams Tag Q2_21_rating was removed from gene: CLP1.
DDG2P v2.76 ATAD3A Eleanor Williams Tag Q3_21_MOI was removed from gene: ATAD3A.
DDG2P v2.76 ATAD3A Eleanor Williams commented on gene: ATAD3A
DDG2P v2.76 CLTC Eleanor Williams commented on gene: CLTC
DDG2P v2.76 DMPK Eleanor Williams commented on gene: DMPK
DDG2P v2.76 CRYBB1 Eleanor Williams Tag watchlist was removed from gene: CRYBB1.
Tag Q4_21_MOI was removed from gene: CRYBB1.
DDG2P v2.76 CRYBB1 Eleanor Williams commented on gene: CRYBB1
DDG2P v2.76 ATP6V1A Eleanor Williams Tag Q3_21_rating was removed from gene: ATP6V1A.
DDG2P v2.76 ATP6V1A Eleanor Williams commented on gene: ATP6V1A
DDG2P v2.76 CLTC Anna de Burca reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 29100083; Phenotypes: Developmental & epileptic encephalopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.76 EMC1 Dmitrijs Rots reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.76 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
DDG2P v2.76 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
DDG2P v2.76 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
DDG2P v2.76 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
DDG2P v2.76 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
DDG2P v2.76 TTC37 Sarah Leigh commented on gene: TTC37
DDG2P v2.76 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
DDG2P v2.76 SKIV2L Sarah Leigh commented on gene: SKIV2L
DDG2P v2.76 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
DDG2P v2.76 KIAA1109 Sarah Leigh commented on gene: KIAA1109
DDG2P v2.76 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
DDG2P v2.76 GBA Sarah Leigh commented on gene: GBA
DDG2P v2.76 GNAI1 Sarah Leigh Tag gene-checked was removed from gene: GNAI1.
DDG2P v2.76 ZNF526 Sarah Leigh Phenotypes for gene: ZNF526 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
DDG2P v2.75 SRY Eleanor Williams commented on gene: SRY
DDG2P v2.75 SRY Eleanor Williams Tag y-chromosome tag was added to gene: SRY.
DDG2P v2.75 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME 601005 to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder
DDG2P v2.74 RPGRIP1 Dmitrijs Rots reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.74 DSPP Dmitrijs Rots reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.74 BFSP2 Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.74 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.73 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
DDG2P v2.73 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.73 ACO2 Sarah Leigh Publications for gene: ACO2 were set to 22405087
DDG2P v2.72 FGF5 Eleanor Williams commented on gene: FGF5
DDG2P v2.72 PLCB4 Eleanor Williams commented on gene: PLCB4
DDG2P v2.72 TAZ Arina Puzriakova commented on gene: TAZ
DDG2P v2.72 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
DDG2P v2.72 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
DDG2P v2.72 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
DDG2P v2.72 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
DDG2P v2.72 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
DDG2P v2.72 C8orf37 Arina Puzriakova commented on gene: C8orf37
DDG2P v2.72 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
DDG2P v2.72 SIM1 Eleanor Williams Tag gene-checked tag was added to gene: SIM1.
DDG2P v2.72 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
DDG2P v2.72 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
DDG2P v2.72 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
DDG2P v2.72 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
DDG2P v2.72 HNRNPR Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPR.
DDG2P v2.72 GNAI1 Arina Puzriakova Tag gene-checked tag was added to gene: GNAI1.
DDG2P v2.72 GNAI1 Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
DDG2P v2.71 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 267750 to Knobloch syndrome, type 1, OMIM:267750
DDG2P v2.70 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to 10942434
DDG2P v2.69 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
DDG2P v2.68 PEX6 Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).
DDG2P v2.68 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
DDG2P v2.67 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.67 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
DDG2P v2.67 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.66 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
DDG2P v2.66 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from ZELLWEGER SYNDROME 214100; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
DDG2P v2.65 ANO5 Sarah Leigh reviewed gene: ANO5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.65 ALPL Sarah Leigh reviewed gene: ALPL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.65 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
DDG2P v2.63 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
DDG2P v2.62 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347; LONG QT SYNDROME-5 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
DDG2P v2.61 ANTXR1 Arina Puzriakova Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, OMIM:230740
DDG2P v2.60 XPNPEP3 Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3.
DDG2P v2.60 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
DDG2P v2.60 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
DDG2P v2.60 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.60 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
DDG2P v2.59 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356
DDG2P v2.58 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
DDG2P v2.57 SH3BP2 Arina Puzriakova Phenotypes for gene: SH3BP2 were changed from Cherubism to Cherubism, OMIM:118400
DDG2P v2.56 PLCG2 Arina Puzriakova Phenotypes for gene: PLCG2 were changed from FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 614468; AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 614878 to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468
DDG2P v2.55 MYH6 Dmitrijs Rots reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.55 TERC Dmitrijs Rots reviewed gene: TERC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.55 RMRP Dmitrijs Rots reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.55 COL6A1 Dmitrijs Rots reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy, Ulrich myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.55 PMS2 Dmitrijs Rots changed review comment from: DD is not part of the phenotype. Red on ID list.; to: DD is not part of the phenotype. Red on ID list. Other MMR deficiency genes are not in the panel.
DDG2P v2.55 PMS2 Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.55 AR Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v2.55 TPP2 Dmitrijs Rots gene: TPP2 was added
gene: TPP2 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to PMID: 25414442
Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity
Review for gene: TPP2 was set to GREEN
Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature.
Sources: Literature
DDG2P v2.55 RASA1 Dmitrijs Rots reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.55 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.55 PBX1 Eleanor Williams Added comment: Comment on list classification: Changing the status to Expert Review Removed, as the content of the panel is only changed when updated from DDG2P sources. The status of this gene on other panels has been checked.
DDG2P v2.55 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.54 PBX1 Eleanor Williams Tag curated_removed tag was added to gene: PBX1.
DDG2P v2.54 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.54 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 PBX1 Eleanor Williams Deleted their review
DDG2P v2.53 PBX1 Eleanor Williams Deleted their comment
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 FGF5 Anna de Burca gene: FGF5 was added
gene: FGF5 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to PMID: 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes
Penetrance for gene: FGF5 were set to Complete
Review for gene: FGF5 was set to GREEN
Added comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype.
Sources: Literature
DDG2P v2.53 CNKSR2 Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v2.53 PBX1 Dmitrijs Rots gene: PBX1 was added
gene: PBX1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM.
Sources: Literature
DDG2P v2.53 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v2.53 TARS Arina Puzriakova Tag new-gene-name tag was added to gene: TARS.
DDG2P v2.53 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels
DDG2P v2.53 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.52 DMPK Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DMPK.
DDG2P v2.52 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
DDG2P v2.52 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from congenital hypotonia, epilepsy, developmental delay, digit abnormalities to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
DDG2P v2.51 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
DDG2P v2.51 EDNRB Ivone Leong Tag Q4_21_MOI tag was added to gene: EDNRB.
DDG2P v2.51 EDNRB Ivone Leong Publications for gene: EDNRB were set to 7778600
DDG2P v2.50 EDNRB Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: 7778600, 11891690; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.50 ATG7 Dmitrijs Rots gene: ATG7 was added
gene: ATG7 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to PMID:34161705
Phenotypes for gene: ATG7 were set to developmental delay; ataxia
Review for gene: ATG7 was set to GREEN
Added comment: Zornitsa Stark wrote for this gene in Ataxia panel:
"12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model. "

Should be also on ID panel.
Sources: Literature
DDG2P v2.50 RAP1GDS1 Dmitrijs Rots gene: RAP1GDS1 was added
gene: RAP1GDS1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAP1GDS1 were set to PMID: 33875846
Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay
Review for gene: RAP1GDS1 was set to GREEN
Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071.
Sources: Literature
DDG2P v2.50 RAB11A Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.50 TAF4 Dmitrijs Rots gene: TAF4 was added
gene: TAF4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846
Phenotypes for gene: TAF4 were set to Developmental delay
Penetrance for gene: TAF4 were set to unknown
Review for gene: TAF4 was set to GREEN
Added comment: From the literature:
"A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans."
Sources: Literature
DDG2P v2.50 CRYBB1 Ivone Leong Tag Q4_21_MOI tag was added to gene: CRYBB1.
DDG2P v2.50 CRYBB1 Ivone Leong reviewed gene: CRYBB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.50 KPNA3 Dmitrijs Rots gene: KPNA3 was added
gene: KPNA3 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to PMID: 34564892
Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay
Penetrance for gene: KPNA3 were set to unknown
Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KPNA3 was set to GREEN
Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature
DDG2P v2.50 PLCB4 Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.50 PRDM12 Sarah Leigh Phenotypes for gene: PRDM12 were changed from HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
DDG2P v2.49 ATN1 Dmitrijs Rots Deleted their review
DDG2P v2.49 ATN1 Dmitrijs Rots Deleted their comment
DDG2P v2.49 ATN1 Dmitrijs Rots reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.49 TMEM260 Sarah Leigh Tag Q4_21_rating tag was added to gene: TMEM260.
DDG2P v2.49 TMEM260 Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN
DDG2P v2.49 TMEM260 Sarah Leigh Publications for gene: TMEM260 were set to 28318500
DDG2P v2.48 TMEM260 Sarah Leigh Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome OMIM:617478; Structural heart defects and renal anomalies syndrome MONDO:0044321
DDG2P v2.47 TMEM260 Sarah Leigh Classified gene: TMEM260 as Amber List (moderate evidence)
DDG2P v2.47 TMEM260 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.47 TMEM260 Sarah Leigh Gene: tmem260 has been classified as Amber List (Moderate Evidence).
DDG2P v2.46 GRIK2 Ivone Leong reviewed gene: GRIK2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.46 ALG8 Sarah Leigh Added comment: Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel.
DDG2P v2.46 ALG8 Sarah Leigh Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.45 ALG8 Sarah Leigh Phenotypes for gene: ALG8 were changed from ALG8-CDG 237145 to Congenital disorder of glycosylation, type Ih OMIM:608104; ALG8-CDG MONDO:0011969
DDG2P v2.44 GRIN1 Sarah Leigh changed review comment from: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.; to: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1357), and only one biallelic case has been reported with this phenotype.
DDG2P v2.44 GRIN1 Sarah Leigh Deleted their comment
DDG2P v2.44 GRIN1 Sarah Leigh Added comment: Comment on phenotypes: EPILEPTIC ENCEPHALOPATHY
DDG2P v2.44 GRIN1 Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655
DDG2P v2.43 GRIN1 Sarah Leigh Added comment: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.
DDG2P v2.43 GRIN1 Sarah Leigh Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.42 GNB1 Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
DDG2P v2.41 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255
DDG2P v2.40 TWIST2 Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME 200110; SETLEIS SYNDROME 227260 to ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
DDG2P v2.39 ZDHHC9 Ivone Leong Added comment: Comment on phenotypes: Previously:
MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799
DDG2P v2.39 ZDHHC9 Ivone Leong Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 to Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
DDG2P v2.38 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from SPLIT-HAND/FOOT MALFORMATION TYPE 6 225300 to Split-hand/foot malformation 6, OMIM:225300
DDG2P v2.37 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Tag Q3_21_rating tag was added to STR: DMPK_CTG.
Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
DDG2P v2.37 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
DDG2P v2.36 DMPK_CTG Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31
DDG2P v2.36 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to DDG2P. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900
DDG2P v2.35 DMPK Arina Puzriakova Tag Q3_21_rating tag was added to gene: DMPK.
DDG2P v2.35 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
DDG2P v2.35 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
DDG2P v2.35 DMPK Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene.

However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.
DDG2P v2.35 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
DDG2P v2.34 ATP6V1A Arina Puzriakova edited their review of gene: ATP6V1A: Changed rating: GREEN; Changed publications to: 28065471, 33320377, 29668857, 32045939
DDG2P v2.34 ATP6V1A Arina Puzriakova Classified gene: ATP6V1A as Amber List (moderate evidence)
DDG2P v2.34 ATP6V1A Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
DDG2P v2.34 ATP6V1A Arina Puzriakova Gene: atp6v1a has been classified as Amber List (Moderate Evidence).
DDG2P v2.33 ATP6V1A Arina Puzriakova Tag Q2_21_rating was removed from gene: ATP6V1A.
Tag Q3_21_rating tag was added to gene: ATP6V1A.
DDG2P v2.33 ATP6V1A Arina Puzriakova Tag Q2_21_rating tag was added to gene: ATP6V1A.
DDG2P v2.33 ATP6V1A Arina Puzriakova Publications for gene: ATP6V1A were set to 28065471
DDG2P v2.32 ATP6V1A Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.32 ATP6V1A Arina Puzriakova Mode of inheritance for gene: ATP6V1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.31 ATP6V1A Arina Puzriakova reviewed gene: ATP6V1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.31 ATP6V1A Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD)
DDG2P v2.30 ATAD3A Arina Puzriakova Tag watchlist was removed from gene: ATAD3A.
Tag Q3_21_MOI tag was added to gene: ATAD3A.
DDG2P v2.30 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.30 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.29 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
DDG2P v2.29 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.29 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
DDG2P v2.28 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Autosomal recessive mental retardation; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; POLR3B-related neurodevelopmental disorder
DDG2P v2.27 FBN2 Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal.
DDG2P v2.27 FBN2 Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.27 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
DDG2P v2.26 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527
DDG2P v2.25 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
DDG2P v2.25 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
DDG2P v2.25 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
DDG2P v2.24 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
DDG2P v2.23 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
DDG2P v2.22 ADPRHL2 Sarah Leigh Added comment: Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v2.22 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
DDG2P v2.21 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
DDG2P v2.21 TTC25 Catherine Snow commented on gene: TTC25
DDG2P v2.21 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
DDG2P v2.21 CCDC151 Catherine Snow commented on gene: CCDC151
DDG2P v2.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
DDG2P v2.21 ARMC4 Catherine Snow commented on gene: ARMC4
DDG2P v2.21 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
DDG2P v2.21 CCDC114 Catherine Snow commented on gene: CCDC114
DDG2P v2.21 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
DDG2P v2.21 C12orf65 Catherine Snow commented on gene: C12orf65
DDG2P v2.21 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
DDG2P v2.21 LRRC6 Catherine Snow commented on gene: LRRC6
DDG2P v2.21 CLP1 Sarah Leigh Publications for gene: CLP1 were set to 24766809
DDG2P v2.20 CLP1 Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
DDG2P v2.20 CLP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.20 CLP1 Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
DDG2P v2.19 CLP1 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLP1.
DDG2P v2.19 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.19 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
DDG2P v2.18 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
DDG2P v2.18 ABCC9 Arina Puzriakova commented on gene: ABCC9
DDG2P v2.18 TRAPPC12 Arina Puzriakova Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.17 KIF14 Arina Puzriakova Mode of inheritance for gene: KIF14 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.16 H3F3A Arina Puzriakova Publications for gene: H3F3A were set to
DDG2P v2.15 H3F3A Arina Puzriakova Classified gene: H3F3A as Green List (high evidence)
DDG2P v2.15 H3F3A Arina Puzriakova Added comment: Comment on list classification: Changed rating to Green as H3F3A is listed in Gene2Phenotype under the new gene name, H3-3A.

Associated with 'Craniofacial with neurodevelopment disorders' with a disease confidence rating of 'confirmed'
DDG2P v2.15 H3F3A Arina Puzriakova Gene: h3f3a has been classified as Green List (High Evidence).
DDG2P v2.14 H3F3A Arina Puzriakova commented on gene: H3F3A
DDG2P v2.14 H3F3A Arina Puzriakova Tag new-gene-name tag was added to gene: H3F3A.
DDG2P v2.14 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIA 238700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
DDG2P v2.13 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123; SEX REVERSAL TYPE 3 300833 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
DDG2P v2.12 PIGQ Sarah Leigh Added comment: Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020).
DDG2P v2.12 PIGQ Sarah Leigh Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
DDG2P v2.11 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 to Microcephaly 15, primary, autosomal recessive, 616486
DDG2P v2.10 RINT1 Dmitrijs Rots Deleted their review
DDG2P v2.10 RINT1 Dmitrijs Rots reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: liver failure, short stature, skeletal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v2.10 CEP104 Arina Puzriakova Phenotypes for gene: CEP104 were changed from JOUBERT SYNDROME 614615 to Joubert syndrome 25, 616781
DDG2P v2.9 ABCC9 Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
DDG2P v2.9 SLC12A6 Sarah Leigh Deleted their comment
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721).
DDG2P v2.9 SLC12A6 Sarah Leigh Added comment: Comment on publications: 12368912;31439721;27485015;16606917;17893295;21628467
DDG2P v2.9 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912
DDG2P v2.8 RNF113A Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A.
DDG2P v2.8 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
DDG2P v2.8 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
DDG2P v2.8 KMT2E Rebecca Foulger Added comment: Comment on phenotypes: Removed MIM ID 616579 from phenotype field, as MIM:616579 is associated with a different gene (CHAMP1).
DDG2P v2.8 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512 to INTELLECTUAL DISABILITY; Neurodevelopmental disorder and Epilepsy 618512
DDG2P v2.7 GNAI1 Rebecca Foulger Publications for gene: GNAI1 were set to
DDG2P v2.6 CNOT3 Rebecca Foulger Publications for gene: CNOT3 were set to
DDG2P v2.5 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
DDG2P v2.5 WDR34 Catherine Snow commented on gene: WDR34
DDG2P v2.5 WDR60 Catherine Snow commented on gene: WDR60
DDG2P v2.5 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
DDG2P v2.5 CDK8 Rebecca Foulger Phenotypes for gene: CDK8 were changed from SYNDROMIC INTELLECTUAL DISABILITY 612100 to SYNDROMIC INTELLECTUAL DISABILITY
DDG2P v2.3 Rebecca Foulger Panel version has been signed off
DDG2P v2.2 Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
DDG2P v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
DDG2P v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2
DDG2P v2.0 Rebecca Foulger promoted panel to version 2.0
DDG2P v1.181 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
DDG2P v1.180 SHOX Rebecca Foulger changed review comment from: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.; to: Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
DDG2P v1.180 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
DDG2P v1.180 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
DDG2P v1.179 SHOX Rebecca Foulger commented on gene: SHOX: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
DDG2P v1.177 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
DDG2P v1.175 EDAR Rebecca Foulger Added comment: Comment on phenotypes: Added new DDG2P disorder to phenotypes: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;Ectodermal dysplasia 10B. DDG2P rating: confirmed. Allelic requirement: monoallelic. Mutation consequence: dominant negative.
DDG2P v1.175 EDAR Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v1.174 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM.
DDG2P v1.174 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.173 USP7 Rebecca Foulger Classified gene: USP7 as Amber List (moderate evidence)
DDG2P v1.173 USP7 Rebecca Foulger Gene: usp7 has been classified as Amber List (Moderate Evidence).
DDG2P v1.172 USP7 Rebecca Foulger Phenotypes for gene: USP7 were changed from Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism to USP7-related developmental disorder (monoallelic); Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism
DDG2P v1.171 USP7 Rebecca Foulger Tag watchlist tag was added to gene: USP7.
DDG2P v1.171 USP7 Rebecca Foulger commented on gene: USP7: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 USP7 Rebecca Foulger commented on gene: USP7: Updated rating from Red to Amber to match current DDG2P ratings:
probable for USP7-related developmental disorder (monoallelic): monoallelic, loss of function.
possible for Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism: no MOI, no MOP.
DDG2P v1.171 SMAD4 Rebecca Foulger commented on gene: SMAD4: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 SMAD4 Rebecca Foulger Tag watchlist tag was added to gene: SMAD4.
DDG2P v1.171 SCN11A Rebecca Foulger Tag watchlist tag was added to gene: SCN11A.
DDG2P v1.171 NUP107 Rebecca Foulger Tag watchlist tag was added to gene: NUP107.
DDG2P v1.171 NUP107 Rebecca Foulger commented on gene: NUP107: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 KDM6B Rebecca Foulger Mode of pathogenicity for gene: KDM6B was changed from Other - please provide details in the comments to None
DDG2P v1.170 KDM6B Rebecca Foulger Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; KDM6B-related developmental disorder (monoallelic)
DDG2P v1.169 KDM6B Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to match MOI of disorder with highest rating (KDM6B-related developmental disorder (monoallelic)).
DDG2P v1.169 KDM6B Rebecca Foulger Mode of inheritance for gene: KDM6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.168 KDM6B Rebecca Foulger Classified gene: KDM6B as Amber List (moderate evidence)
DDG2P v1.168 KDM6B Rebecca Foulger Gene: kdm6b has been classified as Amber List (Moderate Evidence).
DDG2P v1.167 KDM6B Rebecca Foulger commented on gene: KDM6B: Updated rating from Red to Amber to match current DDG2P ratings:
DDG2P rating of probable for KDM6B-related developmental disorder (monoallelic): monoallelic, loss of function.
DDG2P rating of possible for AUTOSOMAL RECESSIVE MENTAL RETARDATION: biallelic, all missense/in frame.
DDG2P v1.167 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
DDG2P v1.167 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.166 EMC1 Rebecca Foulger Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
DDG2P v1.165 EMC1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH Monoallelic and biallelic' to just 'BIALLELIC' to match MOI of highest rated disorder (Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic).
DDG2P v1.165 EMC1 Rebecca Foulger Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.164 EMC1 Rebecca Foulger commented on gene: EMC1: As of November 26th 2019, DDG2P ratings are:
probable for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic (biallelic, loss of function).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic (monoallelic, dominant negative).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy (monoallelic, dominant negative.
DDG2P v1.164 CUL3 Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Red to Green to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.; to: Comment on list classification: Updated rating from Red to Amber to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.164 CUL3 Rebecca Foulger Classified gene: CUL3 as Amber List (moderate evidence)
DDG2P v1.164 CUL3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.164 CUL3 Rebecca Foulger Gene: cul3 has been classified as Amber List (Moderate Evidence).
DDG2P v1.163 CUL3 Rebecca Foulger Phenotypes for gene: CUL3 were changed from CUL3 associated autism spectrum disorder to CUL3-related developmental disorder (monoallelic)
DDG2P v1.162 CRYBB1 Rebecca Foulger changed review comment from: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function); to: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function)
DDG2P v1.162 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.161 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.160 CRYBB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC).
DDG2P v1.160 CRYBB1 Rebecca Foulger Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.159 CRYBB1 Rebecca Foulger Tag watchlist tag was added to gene: CRYBB1.
DDG2P v1.159 CRYBB1 Rebecca Foulger commented on gene: CRYBB1: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.159 CRYBB1 Rebecca Foulger commented on gene: CRYBB1: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P v1.159 COMP Rebecca Foulger commented on gene: COMP: As of November 26th 2019:
DDG2P rating confirmed for PSEUDOACHONDROPLASIA (monoallelic, dominant negative).
DDG2P rating possible for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 (monoallelic, dominant negative).
Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.159 COMP Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorers: dominant negative ; to: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative
DDG2P v1.159 COMP Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170
DDG2P v1.158 COMP Rebecca Foulger Tag watchlist tag was added to gene: COMP.
DDG2P v1.158 CACNA1G Rebecca Foulger commented on gene: CACNA1G: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.158 CACNA1G Rebecca Foulger Tag watchlist tag was added to gene: CACNA1G.
DDG2P v1.158 CACNA1G Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to reflect MOI of the disorder with the highest disease confidence (CACNA1G-related developmental disorder (monoallelic).
DDG2P v1.158 CACNA1G Rebecca Foulger Mode of inheritance for gene: CACNA1G was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.157 CACNA1G Rebecca Foulger Classified gene: CACNA1G as Amber List (moderate evidence)
DDG2P v1.157 CACNA1G Rebecca Foulger Added comment: Comment on list classification: Updated from Red to Amber for new disorder: CACNA1G-related developmental disorder (monoallelic). G2P Disease confidence: probable. G2P allelic requirement: monoallelic. G2P mutation consequence:loss of function.
DDG2P v1.157 CACNA1G Rebecca Foulger Gene: cacna1g has been classified as Amber List (Moderate Evidence).
DDG2P v1.156 CACNA1G Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function.
DDG2P v1.156 CACNA1G Rebecca Foulger Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic)
DDG2P v1.155 CACNA1E Rebecca Foulger commented on gene: CACNA1E: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.155 CACNA1E Rebecca Foulger Tag watchlist tag was added to gene: CACNA1E.
DDG2P v1.155 ACTL6B Rebecca Foulger Tag watchlist tag was added to gene: ACTL6B.
DDG2P v1.154 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0.
DDG2P v1.154 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.153 GJB2 Rebecca Foulger Classified gene: GJB2 as No list
DDG2P v1.153 GJB2 Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019.
DDG2P v1.153 GJB2 Rebecca Foulger Gene: gjb2 has been removed from the panel.
DDG2P v1.153 GJB2 Rebecca Foulger Classified gene: GJB2 as No list
DDG2P v1.153 GJB2 Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019.
DDG2P v1.153 GJB2 Rebecca Foulger Gene: gjb2 has been removed from the panel.
DDG2P v1.152 WDR4 Rebecca Foulger reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 WDFY3 Rebecca Foulger reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 TPRKB Rebecca Foulger reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 TP53RK Rebecca Foulger reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 SMPD4 Rebecca Foulger reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 NUP133 Rebecca Foulger reviewed gene: NUP133: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 NPM1 Rebecca Foulger reviewed gene: NPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MYRF Rebecca Foulger reviewed gene: MYRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 METTL5 Rebecca Foulger reviewed gene: METTL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MESD Rebecca Foulger reviewed gene: MESD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MAB21L1 Rebecca Foulger reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 LINGO1 Rebecca Foulger reviewed gene: LINGO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 LAGE3 Rebecca Foulger reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KIF14 Rebecca Foulger reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KCNT2 Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KCNA4 Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 GRIA4 Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 DEGS1 Rebecca Foulger reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 DACT1 Rebecca Foulger reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 CDH2 Rebecca Foulger reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 APC2 Rebecca Foulger reviewed gene: APC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.151 WDR4 Rebecca Foulger gene: WDR4 was added
gene: WDR4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 30079490
Phenotypes for gene: WDR4 were set to GALLOWAY-MOWAT SYNDROME 6, 618347
DDG2P v1.151 WDFY3 Rebecca Foulger gene: WDFY3 was added
gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDFY3 were set to 31327001
Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay
DDG2P v1.151 TPRKB Rebecca Foulger gene: TPRKB was added
gene: TPRKB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPRKB were set to 28805828
Phenotypes for gene: TPRKB were set to GALLOWAY-MOWAT SYNDROME 5, 617731
Mode of pathogenicity for gene: TPRKB was set to Other - please provide details in the comments
DDG2P v1.151 TP53RK Rebecca Foulger gene: TP53RK was added
gene: TP53RK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 30053862; 28805828
Phenotypes for gene: TP53RK were set to GALLOWAY-MOWAT SYNDROME 4, 617730
DDG2P v1.151 SMPD4 Rebecca Foulger gene: SMPD4 was added
gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis
DDG2P v1.151 NUP133 Rebecca Foulger gene: NUP133 was added
gene: NUP133 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30427554
Phenotypes for gene: NUP133 were set to GALLOWAY-MOWAT SYNDROME 8, 618349
DDG2P v1.151 NPM1 Rebecca Foulger gene: NPM1 was added
gene: NPM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to Dyskeratosis Congenita
Mode of pathogenicity for gene: NPM1 was set to Other - please provide details in the comments
DDG2P v1.151 MYRF Rebecca Foulger gene: MYRF was added
gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761
Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
DDG2P v1.151 METTL5 Rebecca Foulger gene: METTL5 was added
gene: METTL5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 31564433
Phenotypes for gene: METTL5 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
DDG2P v1.151 MESD Rebecca Foulger gene: MESD was added
gene: MESD was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to OSTEOGENESIS IMPERFECTA
DDG2P v1.151 MAB21L1 Rebecca Foulger gene: MAB21L1 was added
gene: MAB21L1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 27103078; 30487245
Phenotypes for gene: MAB21L1 were set to Cerebello-Oculo-Facio-Genital syndrome
DDG2P v1.151 LINGO1 Rebecca Foulger gene: LINGO1 was added
gene: LINGO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to LINGO1 related intellectual disability with microcephaly, speech and motor delay
DDG2P v1.151 LAGE3 Rebecca Foulger gene: LAGE3 was added
gene: LAGE3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 28805828
Phenotypes for gene: LAGE3 were set to GALLOWAY-MOWAT SYNDROME 2, 301006
Mode of pathogenicity for gene: LAGE3 was set to Other - please provide details in the comments
DDG2P v1.151 KIF14 Rebecca Foulger gene: KIF14 was added
gene: KIF14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF14 was set to
Publications for gene: KIF14 were set to 24128419; 28892560
Phenotypes for gene: KIF14 were set to Severe microcephaly and short stature
DDG2P v1.151 KCNT2 Rebecca Foulger gene: KCNT2 was added
gene: KCNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNT2 were set to 29740868
Phenotypes for gene: KCNT2 were set to Developmental and infantile epileptic encephalopathy
Mode of pathogenicity for gene: KCNT2 was set to Other - please provide details in the comments
DDG2P v1.151 KCNA4 Rebecca Foulger gene: KCNA4 was added
gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability.
Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments
DDG2P v1.151 GRIA4 Rebecca Foulger gene: GRIA4 was added
gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIA4 were set to 29220673
Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864
Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments
DDG2P v1.151 DEGS1 Rebecca Foulger gene: DEGS1 was added
gene: DEGS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337
Phenotypes for gene: DEGS1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404
DDG2P v1.151 DACT1 Rebecca Foulger gene: DACT1 was added
gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DACT1 was set to
Publications for gene: DACT1 were set to 28054444; 22610794
Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems
DDG2P v1.151 CDH2 Rebecca Foulger gene: CDH2 was added
gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments
DDG2P v1.151 APC2 Rebecca Foulger gene: APC2 was added
gene: APC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
DDG2P v1.150 NUP107 Rebecca Foulger Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v1.149 NUP107 Rebecca Foulger Publications for gene: NUP107 were set to 26411495
DDG2P v1.148 NUP107 Rebecca Foulger commented on gene: NUP107: New gene:disorder association added to DDG2P October 2019: GALLOWAY-MOWAT SYNDROME 7, 618348. G2P Allelic requirement: biallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: possible.
DDG2P v1.148 NUP107 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic.
DDG2P v1.148 CIC Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain ; to: Original DDG2P rating for CAPICUA, DROSOPHILA, HOMOLOG OF: possible. DDG2P mode of pathogenicity: uncertain. Allelic requirement: monoallelic.
DDG2P v1.148 CIC Rebecca Foulger changed review comment from: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'.; to: Comment on mode of pathogenicity: Changed MOP to default LOF to match Gene2Phenotype update: current Mutation consequence in Gene2Phenotype is 'Loss of Function'.
DDG2P v1.148 CIC Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'.
DDG2P v1.148 CIC Rebecca Foulger Mode of pathogenicity for gene: CIC was changed from Other - please provide details in the comments to None
DDG2P v1.147 CIC Rebecca Foulger Classified gene: CIC as Amber List (moderate evidence)
DDG2P v1.147 CIC Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following a change in G2P Disease confidence from possible to probable for 'CAPICUA, DROSOPHILA, HOMOLOG OF'.
DDG2P v1.147 CIC Rebecca Foulger Gene: cic has been classified as Amber List (Moderate Evidence).
DDG2P v1.146 FAM58A Rebecca Foulger commented on gene: FAM58A: The Gene2Phenotype allelic requirement for STAR SYNDROME has been updated to x-linked dominant, to match the recent update in PanelApp.
DDG2P v1.146 AMER1 Rebecca Foulger commented on gene: AMER1: The Gene2Phenotype allelic requirement for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS has been updated to x-linked dominant, to match the recent update in PanelApp.
DDG2P v1.146 ACTL6B Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Unspecified Neurodevelopmental Disorder' from phenotypes to match G2P update.
DDG2P v1.146 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.145 SLC35A2 Rebecca Foulger Phenotypes for gene: SLC35A2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION to Epileptic Encephalopathy due to congenital disorder of glycosylation
DDG2P v1.144 SLC35A2 Rebecca Foulger Publications for gene: SLC35A2 were set to
DDG2P v1.143 AMER1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene.
DDG2P v1.143 AMER1 Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.142 AMER1 Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating: both DD and IF for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS. Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.142 FAM58A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A is an X-linked gene.
DDG2P v1.142 FAM58A Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.141 FAM58A Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is CCNQ.; to: Original DDG2P rating: confirmed for STAR SYNDROME. Gene symbol used in Original DD-G2P gene list is CCNQ. DDG2P allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.141 DCX Rebecca Foulger Mode of inheritance for gene: DCX 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)
DDG2P v1.140 CASK Rebecca Foulger Mode of inheritance for gene: CASK 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)
DDG2P v1.139 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from XLD to XLR to match 'hemizygous' allelic requirement in Gene2Phenotype.
DDG2P v1.139 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 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
DDG2P v1.138 SLC35A2 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating: confirmed for Epileptic Encephalopathy due to congenital disorder of glycosylation. DDG2P Allelic requirement: x-linked dominant. DDG2P mutation consequence: loss of function.
DDG2P v1.138 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed mode of inheritance to XLD to match Gene2Phenotype.
DDG2P v1.138 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.137 SOX11 Rebecca Foulger commented on gene: SOX11: The rating of genes on the DDG2P panel directly reflects the Gene2Phenotype Disease confidence. Therefore I have added SOX11 to the panel 'Paediatric disorders - additional genes' as a Green gene based on the review by Alisdair McNeil, so that SOX11 will feature as a Green gene on the 'Paediatric disorders' Super panel.
DDG2P v1.137 AIFM1 Rebecca Foulger Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521; COWCHOCK SYNDROME to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816; COWCHOCK SYNDROME 310490
DDG2P v1.136 SMAD4 Rebecca Foulger Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
DDG2P v1.135 ALX4 Rebecca Foulger Phenotypes for gene: ALX4 were changed from PARIETAL FORAMINA 2 221704; FRONTONASAL DYSPLASIA 2 605420 to PARIETAL FORAMINA 2 609597; FRONTONASAL DYSPLASIA 2 613451
DDG2P v1.134 SALL4 Rebecca Foulger Phenotypes for gene: SALL4 were changed from ACRO-RENAL-OCULAR SYNDROME 217001; DUANE-RADIAL RAY SYNDROME 173212 to ACRO-RENAL-OCULAR SYNDROME 607323; DUANE-RADIAL RAY SYNDROME 607323
DDG2P v1.133 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG 319493; Saul-Wilson syndrome to COG4-CDG 319493; Saul-Wilson syndrome 618150
DDG2P v1.132 ARID1B Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). ; to: Original DDG2P rating: confirmed (for both disorders: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900).
DDG2P v1.132 ARID1B Rebecca Foulger Phenotypes for gene: ARID1B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562; COFFIN SIRIS SYNDROME to MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900
DDG2P v1.131 MUT Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for METHYLMALONIC ACIDURIA TYPE MUT: confirmed. DDG2P allelic requirement: biallelic. DDG2P mutation consequence: loss of function.
DDG2P v1.131 KARS Rebecca Foulger commented on gene: KARS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v1.131 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v1.131 FAM161A Rebecca Foulger commented on gene: FAM161A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v1.131 ALDOB Rebecca Foulger commented on gene: ALDOB: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v1.131 CISD2 Rebecca Foulger commented on gene: CISD2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for WOLFRAM SYNDROME TYPE 2.
DDG2P v1.131 DARS2 Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v1.131 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PARKINSON DISEASE 9.
DDG2P v1.131 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
DDG2P v1.131 THAP1 Rebecca Foulger commented on gene: THAP1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DYSTONIA 6, TORSION.
DDG2P v1.131 PDCD10 Rebecca Foulger commented on gene: PDCD10: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
DDG2P v1.131 ANO5 Rebecca Foulger commented on gene: ANO5: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA.
DDG2P v1.131 SYNE1 Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE.
DDG2P v1.131 AIRE Rebecca Foulger commented on gene: AIRE: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
DDG2P v1.131 ACADS Rebecca Foulger commented on gene: ACADS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
DDG2P v1.131 CLN6 Rebecca Foulger commented on gene: CLN6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
DDG2P v1.131 GBA Rebecca Foulger commented on gene: GBA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 1; GAUCHER DISEASE; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE TYPE 3.
DDG2P v1.131 LDB3 Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v1.131 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v1.131 RRM2B Rebecca Foulger commented on gene: RRM2B: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Mitochondrial depletion syndrome.
DDG2P v1.131 AGXT Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v1.131 KRIT1 Rebecca Foulger commented on gene: KRIT1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
DDG2P v1.131 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for INFANTILE NEUROAXONAL DYSTROPHY 1; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B.
DDG2P v1.131 GJB3 Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v1.131 SMAD4 Rebecca Foulger commented on gene: SMAD4: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME.
DDG2P v1.131 BRCA2 Rebecca Foulger commented on gene: BRCA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
DDG2P v1.131 AR Rebecca Foulger commented on gene: AR: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY.
DDG2P v1.131 FMR1 Rebecca Foulger commented on gene: FMR1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1.
DDG2P v1.131 BGN Rebecca Foulger commented on gene: BGN: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection.
DDG2P v1.131 AMER1 Rebecca Foulger commented on gene: AMER1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
DDG2P v1.131 ABCD1 Rebecca Foulger commented on gene: ABCD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
DDG2P v1.131 TIMM8A Rebecca Foulger commented on gene: TIMM8A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
DDG2P v1.131 MYO7A Rebecca Foulger commented on gene: MYO7A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
DDG2P v1.131 CDH1 Rebecca Foulger commented on gene: CDH1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v1.131 TGFB2 Rebecca Foulger commented on gene: TGFB2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
DDG2P v1.131 NR5A1 Rebecca Foulger commented on gene: NR5A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
DDG2P v1.131 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v1.131 KCNE1 Rebecca Foulger commented on gene: KCNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
DDG2P v1.131 POLD1 Rebecca Foulger commented on gene: POLD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM .
DDG2P v1.131 KIT Rebecca Foulger commented on gene: KIT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HUMAN PIEBALDISM.
DDG2P v1.131 RET Rebecca Foulger commented on gene: RET: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
DDG2P v1.131 MYH8 Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT.
DDG2P v1.131 LMNA Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B.
DDG2P v1.131 ALAD Rebecca Foulger commented on gene: ALAD: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ACUTE HEPATIC PORPHYRIA.
DDG2P v1.131 COL4A1 Rebecca Foulger commented on gene: COL4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 1.
DDG2P v1.131 COL4A2 Rebecca Foulger commented on gene: COL4A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 2.
DDG2P v1.131 HSPD1 Rebecca Foulger commented on gene: HSPD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
DDG2P v1.131 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD.
DDG2P v1.131 ACTA2 Rebecca Foulger commented on gene: ACTA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5.
DDG2P v1.130 TARS Rebecca Foulger reviewed gene: TARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 FAM149B1 Rebecca Foulger reviewed gene: FAM149B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 LEMD2 Rebecca Foulger reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX37 Rebecca Foulger reviewed gene: DHX37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX34 Rebecca Foulger reviewed gene: DHX34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DDX54 Rebecca Foulger reviewed gene: DDX54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 TAOK1 Rebecca Foulger reviewed gene: TAOK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 RINT1 Rebecca Foulger reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 BRSK2 Rebecca Foulger reviewed gene: BRSK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 BNC2 Rebecca Foulger reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 PIGU Rebecca Foulger reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 ROBO4 Rebecca Foulger reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 HNRNPR Rebecca Foulger reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DLL1 Rebecca Foulger reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 B3GAT3 Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 MYOCD Rebecca Foulger reviewed gene: MYOCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 FBXW11 Rebecca Foulger reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 PIGB Rebecca Foulger reviewed gene: PIGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX16 Rebecca Foulger reviewed gene: DHX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DYNC1I2 Rebecca Foulger reviewed gene: DYNC1I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CDK8 Rebecca Foulger reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 KCNN3 Rebecca Foulger reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POU3F3 Rebecca Foulger reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 SMARCD1 Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 AP2M1 Rebecca Foulger reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CACNA1B Rebecca Foulger reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 RRAS2 Rebecca Foulger reviewed gene: RRAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 WDR37 Rebecca Foulger reviewed gene: WDR37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POLA1 Rebecca Foulger reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 GPC4 Rebecca Foulger reviewed gene: GPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POLR2A Rebecca Foulger reviewed gene: POLR2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CSF1R Rebecca Foulger reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 GOT2 Rebecca Foulger reviewed gene: GOT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 NUP214 Rebecca Foulger reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.129 TARS Rebecca Foulger gene: TARS was added
gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy
DDG2P v1.129 FAM149B1 Rebecca Foulger gene: FAM149B1 was added
gene: FAM149B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Ciliopathy-related syndromic intellectual disability
DDG2P v1.129 LEMD2 Rebecca Foulger gene: LEMD2 was added
gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to 30905398
Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance
Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments
DDG2P v1.129 DHX37 Rebecca Foulger gene: DHX37 was added
gene: DHX37 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHX37 were set to 31256877
Phenotypes for gene: DHX37 were set to Intellectual Disability and Central Nervous System anomalies
Mode of pathogenicity for gene: DHX37 was set to Other - please provide details in the comments
DDG2P v1.129 DHX34 Rebecca Foulger gene: DHX34 was added
gene: DHX34 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHX34 were set to 31256877
Phenotypes for gene: DHX34 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: DHX34 was set to Other - please provide details in the comments
DDG2P v1.129 DDX54 Rebecca Foulger gene: DDX54 was added
gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX54 were set to 31256877
Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies
Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments
DDG2P v1.129 TAOK1 Rebecca Foulger gene: TAOK1 was added
gene: TAOK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAOK1 were set to 31230721
Phenotypes for gene: TAOK1 were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 RINT1 Rebecca Foulger gene: RINT1 was added
gene: RINT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
DDG2P v1.129 BRSK2 Rebecca Foulger gene: BRSK2 was added
gene: BRSK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Neurodevelopmental Disorder
DDG2P v1.129 BNC2 Rebecca Foulger gene: BNC2 was added
gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BNC2 were set to 31051115
Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction
DDG2P v1.129 PIGU Rebecca Foulger gene: PIGU was added
gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis
Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments
DDG2P v1.129 ROBO4 Rebecca Foulger gene: ROBO4 was added
gene: ROBO4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to Bicuspid Aortic Valve and Aortic Aneurysm 618496
DDG2P v1.129 HNRNPR Rebecca Foulger gene: HNRNPR was added
gene: HNRNPR was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 DLL1 Rebecca Foulger gene: DLL1 was added
gene: DLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 B3GAT3 Rebecca Foulger gene: B3GAT3 was added
gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 31438591
Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600
Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments
DDG2P v1.129 MYOCD Rebecca Foulger gene: MYOCD was added
gene: MYOCD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Congenital megabladder
DDG2P v1.129 FBXW11 Rebecca Foulger gene: FBXW11 was added
gene: FBXW11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: FBXW11 was set to Other - please provide details in the comments
DDG2P v1.129 PIGB Rebecca Foulger gene: PIGB was added
gene: PIGB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality
DDG2P v1.129 DHX16 Rebecca Foulger gene: DHX16 was added
gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX16 were set to 31256877
Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures
Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments
DDG2P v1.129 DYNC1I2 Rebecca Foulger gene: DYNC1I2 was added
gene: DYNC1I2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492
DDG2P v1.129 CDK8 Rebecca Foulger gene: CDK8 was added
gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments
DDG2P v1.129 KCNN3 Rebecca Foulger gene: KCNN3 was added
gene: KCNN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to 31155282
Phenotypes for gene: KCNN3 were set to ZIMMERMANN-LABAND SYNDROME
Mode of pathogenicity for gene: KCNN3 was set to Other - please provide details in the comments
DDG2P v1.129 POU3F3 Rebecca Foulger gene: POU3F3 was added
gene: POU3F3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POU3F3 were set to 31303265
Phenotypes for gene: POU3F3 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: POU3F3 was set to Other - please provide details in the comments
DDG2P v1.129 SMARCD1 Rebecca Foulger gene: SMARCD1 was added
gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments
DDG2P v1.129 AP2M1 Rebecca Foulger gene: AP2M1 was added
gene: AP2M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Developmental and Epileptic Encephalopathy
Mode of pathogenicity for gene: AP2M1 was set to Other - please provide details in the comments
DDG2P v1.129 CACNA1B Rebecca Foulger gene: CACNA1B was added
gene: CACNA1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
DDG2P v1.129 RRAS2 Rebecca Foulger gene: RRAS2 was added
gene: RRAS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAS2 were set to 31130282; 31130285; 24705357
Phenotypes for gene: RRAS2 were set to Noonan syndrome
Mode of pathogenicity for gene: RRAS2 was set to Other - please provide details in the comments
DDG2P v1.129 WDR37 Rebecca Foulger gene: WDR37 was added
gene: WDR37 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: WDR37 was set to Other - please provide details in the comments
DDG2P v1.129 POLA1 Rebecca Foulger gene: POLA1 was added
gene: POLA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 31006512
Phenotypes for gene: POLA1 were set to VAN ESCH-O'DRISCOLL SYNDROME 301030
DDG2P v1.129 GPC4 Rebecca Foulger gene: GPC4 was added
gene: GPC4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC4 were set to 30982611
Phenotypes for gene: GPC4 were set to KEIPERT SYNDROME 301026
DDG2P v1.129 VAMP2 Rebecca Foulger gene: VAMP2 was added
gene: VAMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: VAMP2 was set to Other - please provide details in the comments
DDG2P v1.129 POLR2A Rebecca Foulger gene: POLR2A was added
gene: POLR2A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: POLR2A was set to Other - please provide details in the comments
DDG2P v1.129 CSF1R Rebecca Foulger gene: CSF1R was added
gene: CSF1R was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982608; 30982609
Phenotypes for gene: CSF1R were set to BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
DDG2P v1.129 GOT2 Rebecca Foulger gene: GOT2 was added
gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy
Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments
DDG2P v1.129 NUP214 Rebecca Foulger gene: NUP214 was added
gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426
DDG2P v1.128 SOX11 alisdair mcneill reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v1.127 SNORD118 Rebecca Foulger Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy with cerebral calcification & cysts to Leukoencephalopathy with cerebral calcification & cysts 614561
DDG2P v1.126 SNORD118 Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating for Leukoencephalopathy with cerebral calcification & cysts: both DD and IF. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.126 SNORD118 Rebecca Foulger commented on gene: SNORD118: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'both RD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089
DDG2P v1.125 MYH6 Rebecca Foulger commented on gene: MYH6: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).
DDG2P v1.125 BRCA1 Rebecca Foulger commented on gene: BRCA1: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).
DDG2P v1.125 BRCA1 Rebecca Foulger Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579
DDG2P v1.124 KDM5B Rebecca Foulger Publications for gene: KDM5B were set to 24307393; 28720891
DDG2P v1.123 KDM5B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'monoallelic' to 'BOTH monoallelic and biallelic' to match the September 2019 DDG2P update.
DDG2P v1.123 KDM5B Rebecca Foulger Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.122 KDM5B Rebecca Foulger Classified gene: KDM5B as Amber List (moderate evidence)
DDG2P v1.122 KDM5B Rebecca Foulger Added comment: Comment on list classification: Updated rating of KDM5B from Red to Amber: A DDG2P update (September 2019) has changed the rating from 'possible' to 'probable'. The Mode of inheritance was also changed in the September 2019 update from monoallelic to both monoallelic and biallelic.
DDG2P v1.122 KDM5B Rebecca Foulger Gene: kdm5b has been classified as Amber List (Moderate Evidence).
DDG2P v1.121 KDM5B Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for Autism: possible. DDG2P Mutation consequence: loss of function. Mode of inheritance: monoallelic.
DDG2P v1.121 ACTL6B Rebecca Foulger Classified gene: ACTL6B as Green List (high evidence)
DDG2P v1.121 ACTL6B Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE.
DDG2P v1.121 ACTL6B Rebecca Foulger Gene: actl6b has been classified as Green List (High Evidence).
DDG2P v1.120 ACTL6B Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence.
DDG2P v1.120 ACTL6B Rebecca Foulger Mode of pathogenicity for gene: ACTL6B was changed from Other - please provide details in the comments to None
DDG2P v1.119 ACTL6B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings.
DDG2P v1.119 ACTL6B Rebecca Foulger Mode of inheritance for gene: ACTL6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.118 ACTL6B Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019:

New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.

New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic.
DDG2P v1.118 ACTL6B Rebecca Foulger Publications for gene: ACTL6B were set to 28867141
DDG2P v1.117 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.116 ACTL6B Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame ; to: Original DDG2P rating for Unspecified Neurodevelopmental Disorder: possible. DDG2P mode of pathogenicity: all missense/in frame; DG2P allelic requirement: monoallelic.
DDG2P v1.116 FAT4 Rebecca Foulger commented on gene: FAT4: Two new gene:disorders added to DDG2P for FAT4, September 2019:

New gene:disorder association: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: uncertain; DDG2P allelic requirement: biallelic.

New gene:disorder association: VAN MALDERGEM SYNDROME. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.116 FAT4 Rebecca Foulger Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006; VAN MALDERGEM SYNDROME 615546
DDG2P v1.115 FAT4 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for PERIVENTRICULAR NEURONAL HETEROTOPIA: confirmed. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.115 KDM3B Rebecca Foulger commented on gene: KDM3B: New gene:disorder association added to DDG2P for KDM3B, September 2019: Intellectual Disability, Short Stature, and Facial Dysmorphism. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: loss of function; DDG2P mode of inheritance: monoallelic.
DDG2P v1.115 KDM3B Rebecca Foulger Phenotypes for gene: KDM3B were changed from KDM3B-related intellectual disability, short stature and facial dysmorphism to Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism
DDG2P v1.114 KMT2E Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for INTELLECTUAL DISABILITY: confirmed. DDG2P Mode of Pathogenicity/Mutation consequence: loss of function; DDG2P Mode of inheritance/allelic requirement: monoallelic.
DDG2P v1.114 KMT2E Rebecca Foulger commented on gene: KMT2E: New gene:disorder association added to DDG2P for KMT2E, September 2019: Neurodevelopmental disorder and Epilepsy. Disease confidence rating in DDG2P: possible; DDG2P mutation consequence: uncertain; DDG2P mode of inheritance: monoallelic.
DDG2P v1.114 KMT2E Rebecca Foulger Publications for gene: KMT2E were set to
DDG2P v1.113 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512
DDG2P v1.112 NBAS Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD: confirmed. DDG2P Mode of Pathogenicity: loss of function; DDG2P Mode of Inheritance: biallelic.
DDG2P v1.112 NBAS Rebecca Foulger commented on gene: NBAS: New gene:disorder association added to DDG2P for NBAS, September 2019: ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.112 NBAS Rebecca Foulger Phenotypes for gene: NBAS were changed from ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
DDG2P v1.111 CNOT1 Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to pancreatic agenesis and holoprosencephaly syndrome; HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500
DDG2P v1.110 CNOT1 Rebecca Foulger commented on gene: CNOT1: New gene:disorder association added to DDG2P for CNOT1, September 2019: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating ; to: Original DDG2P rating for CONGENITAL INABILITY TO EXPERIENCE PAIN: confirmed. DDG2P mode of pathogenicity: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger commented on gene: SCN11A: New gene:disorder association added to DDG2P for SCN11A, September 2019: EPISODIC PAIN SYNDROME, FAMILIAL. Disease confidence rating in DDG2P: both RD and IF; DDG2P mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger Phenotypes for gene: SCN11A were changed from CONGENITAL INABILITY TO EXPERIENCE PAIN to CONGENITAL INABILITY TO EXPERIENCE PAIN; EPISODIC PAIN SYNDROME, FAMILIAL 615552
DDG2P v1.109 FLNA Rebecca Foulger commented on gene: FLNA: New gene:disorder association added to DDG2P, September 2019: PERIVENTRICULAR NODULAR HETEROTOPIA 1. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: x-linked dominant.
DDG2P v1.109 FLNA Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244
DDG2P v1.108 CLIC2 Rebecca Foulger Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32 to Mental retardation, X-linked, syndromic 32 300886
DDG2P v1.107 DKC1 Rebecca Foulger Phenotypes for gene: DKC1 were changed from DYSKERATOSIS CONGENITA, X-LINKED; DKC1-RELATED DYSKERATOSIS CONGENITA 314912 to DYSKERATOSIS CONGENITA, X-LINKED, 305000; DKC1-RELATED DYSKERATOSIS CONGENITA 314912
DDG2P v1.106 GDI1 Rebecca Foulger Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 48 300104; MENTAL RETARDATION X-LINKED TYPE 41 300104 to MENTAL RETARDATION X-LINKED TYPE 48 300849; MENTAL RETARDATION X-LINKED TYPE 41 300849
DDG2P v1.105 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from Circumferential Skin Creases Kunze Type; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 to Circumferential Skin Creases Kunze Type 156610; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771
DDG2P v1.104 TPM2 Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
DDG2P v1.103 TGFB3 Rebecca Foulger Phenotypes for gene: TGFB3 were changed from LOEYS-DIETZ SYNDROME to LOEYS-DIETZ SYNDROME 615582
DDG2P v1.102 TGFBR1 Rebecca Foulger Phenotypes for gene: TGFBR1 were changed from LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 to LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192
DDG2P v1.101 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations 617602
DDG2P v1.100 POLG Rebecca Foulger Phenotypes for gene: POLG were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
DDG2P v1.99 PAX9 Rebecca Foulger Phenotypes for gene: PAX9 were changed from TOOTH AGENESIS, SELECTIVE, 3 318869 to TOOTH AGENESIS, SELECTIVE, 3 604625
DDG2P v1.98 GLI3 Rebecca Foulger Phenotypes for gene: GLI3 were changed from PREAXIAL POLYDACTYLY TYPE IV 269157; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700; POSTAXIAL POLYDACTYLY TYPE A 149847; PALLISTER-HALL SYNDROME 146510 to PREAXIAL POLYDACTYLY TYPE IV 269157; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700; POSTAXIAL POLYDACTYLY TYPE A 174200; PALLISTER-HALL SYNDROME 146510
DDG2P v1.97 MYH9 Rebecca Foulger Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 605249; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208; EPSTEIN SYNDROME 153650; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 153640 to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100
DDG2P v1.96 MITF Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510
DDG2P v1.95 LAMA1 Rebecca Foulger Phenotypes for gene: LAMA1 were changed from CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY; AUTOSOMAL RECESSIVE MENTAL RETARDATION to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960; AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v1.94 ITPR1 Rebecca Foulger Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome to SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700
DDG2P v1.93 SLC2A2 Rebecca Foulger Phenotypes for gene: SLC2A2 were changed from FANCONI-BICKEL SYNDROME 269871 to FANCONI-BICKEL SYNDROME 227810
DDG2P v1.92 FGFR1 Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001
DDG2P v1.91 FN1 Rebecca Foulger Phenotypes for gene: FN1 were changed from Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal Dysplasia with Corner Fractures 184255
DDG2P v1.90 EDNRA Rebecca Foulger Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367
DDG2P v1.89 ERCC1 Rebecca Foulger Phenotypes for gene: ERCC1 were changed from FANCONI ANEMIA 229154; CEREBROOCULOFACIOSKELETAL SYNDROME 4 298956 to FANCONI ANEMIA 229154; CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758
DDG2P v1.88 DSG1 Rebecca Foulger Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
DDG2P v1.87 CRYGD Rebecca Foulger Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 608983; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v1.86 CRYAA Rebecca Foulger Phenotypes for gene: CRYAA were changed from CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 to CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
DDG2P v1.85 COL18A1 Rebecca Foulger Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 315926 to KNOBLOCH SYNDROME TYPE I 267750
DDG2P v1.84 COL11A2 Rebecca Foulger Phenotypes for gene: COL11A2 were changed from WEISSENBACHER-ZWEYMUELLER SYNDROME 277610; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 to WEISSENBACHER-ZWEYMUELLER SYNDROME 184840; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
DDG2P v1.83 CDH3 Rebecca Foulger Phenotypes for gene: CDH3 were changed from EEM SYNDROME 280238; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 to EEM SYNDROME 225280; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
DDG2P v1.82 ACTA1 Rebecca Foulger Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to NEMALINE MYOPATHY 3, 161800
DDG2P v1.81 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
DDG2P v1.81 ANAPC1 Rebecca Foulger commented on gene: ANAPC1
DDG2P v1.81 CYP27A1 Rebecca Foulger gene: CYP27A1 was added
gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 2019602; 16278884
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
DDG2P v1.81 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
DDG2P v1.80 EPRS Louise Daugherty Tag new-gene-name tag was added to gene: EPRS.
DDG2P v1.80 EPRS Louise Daugherty commented on gene: EPRS
DDG2P v1.80 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
DDG2P v1.80 ARSE Louise Daugherty commented on gene: ARSE
DDG2P v1.80 HIST1H4J Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4J.
DDG2P v1.80 HIST1H4J Louise Daugherty commented on gene: HIST1H4J
DDG2P v1.80 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
DDG2P v1.80 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
DDG2P v1.80 HIST1H4B Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4B.
DDG2P v1.80 HIST1H4B Louise Daugherty commented on gene: HIST1H4B
DDG2P v1.80 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
DDG2P v1.80 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
DDG2P v1.80 HIST3H3 Louise Daugherty Tag new-gene-name tag was added to gene: HIST3H3.
DDG2P v1.80 HIST3H3 Louise Daugherty commented on gene: HIST3H3
DDG2P v1.80 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
DDG2P v1.80 KIF1BP Louise Daugherty commented on gene: KIF1BP
DDG2P v1.80 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
DDG2P v1.80 HARS Louise Daugherty commented on gene: HARS
DDG2P v1.80 CARS Louise Daugherty Tag new-gene-name tag was added to gene: CARS.
DDG2P v1.80 CARS Louise Daugherty commented on gene: CARS
DDG2P v1.80 IARS Louise Daugherty Tag new-gene-name tag was added to gene: IARS.
DDG2P v1.80 IARS Louise Daugherty commented on gene: IARS
DDG2P v1.80 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
DDG2P v1.80 QARS Louise Daugherty commented on gene: QARS
DDG2P v1.80 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
DDG2P v1.80 KARS Louise Daugherty commented on gene: KARS
DDG2P v1.80 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
DDG2P v1.80 AARS Louise Daugherty commented on gene: AARS
DDG2P v1.80 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
DDG2P v1.80 DARS Louise Daugherty commented on gene: DARS
DDG2P v1.80 SETD1B Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.79 SETD1B Rebecca Foulger gene: SETD1B was added
gene: SETD1B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD1B were set to 29322246
Phenotypes for gene: SETD1B were set to SETD1B associated intellectual disability, epilepsy and autism
DDG2P v1.78 MYPN Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DD-G2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.; to: Original DDG2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.
DDG2P v1.78 PIH1D3 Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.
DDG2P v1.78 TMEM199 Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for Disorder of Golgi homeostasis: child IF.; to: Original DDG2P rating for Disorder of Golgi homeostasis: child IF.
DDG2P v1.78 TERC Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for Dyskeratosis congenita, autosomal dominant 1 : child IF.; to: Original DDG2P rating for Dyskeratosis congenita, autosomal dominant 1: child IF.
DDG2P v1.77 BGN Rebecca Foulger Source Expert Review Green was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ANO5 Rebecca Foulger Source Expert Review Green was added to ANO5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 FMR1 Rebecca Foulger Source Expert Review Green was added to FMR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SMAD4 Rebecca Foulger Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 TIMM8A Rebecca Foulger Source Expert Review Green was added to TIMM8A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 THAP1 Rebecca Foulger Source Expert Review Green was added to THAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 TGFB2 Rebecca Foulger Source Expert Review Green was added to TGFB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SYNE1 Rebecca Foulger Source Expert Review Green was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SPTLC2 Rebecca Foulger Source Expert Review Green was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SNORD118 Rebecca Foulger Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SMCHD1 Rebecca Foulger Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SLC4A11 Rebecca Foulger Source Expert Review Green was added to SLC4A11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SLC4A1 Rebecca Foulger Source Expert Review Green was added to SLC4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 RRM2B Rebecca Foulger Source Expert Review Green was added to RRM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 RET Rebecca Foulger Source Expert Review Green was added to RET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 POLD1 Rebecca Foulger Source Expert Review Green was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 PLA2G6 Rebecca Foulger Source Expert Review Green was added to PLA2G6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 PDCD10 Rebecca Foulger Source Expert Review Green was added to PDCD10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 NR5A1 Rebecca Foulger Source Expert Review Green was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYO7A Rebecca Foulger Source Expert Review Green was added to MYO7A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYH6 Rebecca Foulger Source Expert Review Green was added to MYH6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 LMNA Rebecca Foulger Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 LDB3 Rebecca Foulger Source Expert Review Green was added to LDB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KRIT1 Rebecca Foulger Source Expert Review Green was added to KRIT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KIT Rebecca Foulger Source Expert Review Green was added to KIT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KARS Rebecca Foulger Source Expert Review Green was added to KARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 HSPD1 Rebecca Foulger Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 GJB3 Rebecca Foulger Source Expert Review Green was added to GJB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 GBA Rebecca Foulger Source Expert Review Green was added to GBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 FAM161A Rebecca Foulger Source Expert Review Green was added to FAM161A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 DARS2 Rebecca Foulger Source Expert Review Green was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 COL4A2 Rebecca Foulger Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 COL4A1 Rebecca Foulger Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CLN6 Rebecca Foulger Source Expert Review Green was added to CLN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CISD2 Rebecca Foulger Source Expert Review Green was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CDH1 Rebecca Foulger Source Expert Review Green was added to CDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 BRCA2 Rebecca Foulger Source Expert Review Green was added to BRCA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 BRCA1 Rebecca Foulger Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ATP1A3 Rebecca Foulger Source Expert Review Green was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ATP13A2 Rebecca Foulger Source Expert Review Green was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AMER1 Rebecca Foulger Source Expert Review Green was added to AMER1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ALDOB Rebecca Foulger Source Expert Review Green was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ALAD Rebecca Foulger Source Expert Review Green was added to ALAD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AIRE Rebecca Foulger Source Expert Review Green was added to AIRE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AGXT Rebecca Foulger Source Expert Review Green was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ACTA2 Rebecca Foulger Source Expert Review Green was added to ACTA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ACADS Rebecca Foulger Source Expert Review Green was added to ACADS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ABCD1 Rebecca Foulger Source Expert Review Green was added to ABCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.76 BGN Rebecca Foulger commented on gene: BGN: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
DDG2P v1.76 ANO5 Rebecca Foulger commented on gene: ANO5: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v1.76 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v1.76 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v1.76 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 RET Rebecca Foulger commented on gene: RET: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KIT Rebecca Foulger commented on gene: KIT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KARS Rebecca Foulger commented on gene: KARS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 GBA Rebecca Foulger commented on gene: GBA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AR Rebecca Foulger commented on gene: AR: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.75 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed.
DDG2P v1.75 PCDH19 Rebecca Foulger Mode of inheritance for gene: PCDH19 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)
DDG2P v1.74 MN1 Rebecca Foulger commented on gene: MN1
DDG2P v1.74 EIF3F Rebecca Foulger commented on gene: EIF3F
DDG2P v1.74 BRD4 Rebecca Foulger commented on gene: BRD4
DDG2P v1.74 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'x-linked over dominance' to a PanelApp standardised MOI term.
DDG2P v1.74 PCDH19 Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.73 MN1 Rebecca Foulger gene: MN1 was added
gene: MN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 21242494
Phenotypes for gene: MN1 were set to MN1 C-terminal truncation syndrome
DDG2P v1.73 EIF3F Rebecca Foulger gene: EIF3F was added
gene: EIF3F was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to EIF3F related developmental disorder
DDG2P v1.73 BRD4 Rebecca Foulger gene: BRD4 was added
gene: BRD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRD4 were set to 29379197; 30302754
Phenotypes for gene: BRD4 were set to CORNELIA DE LANGE-LIKE SYNDROME
DDG2P v1.72 RAD51 Rebecca Foulger Classified gene: RAD51 as Red List (low evidence)
DDG2P v1.72 RAD51 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red to reflect a change in DD-G2P Disease confidence from probable to possible in June 2019. Disease remains as: MIRROR MOVEMENTS 2. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: loss of function.
DDG2P v1.72 RAD51 Rebecca Foulger Gene: rad51 has been classified as Red List (Low Evidence).
DDG2P v1.71 CHD3 Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Macrocephaly and impaired speech and language
DDG2P v1.70 CHD3 Rebecca Foulger Added comment: Comment on publications: Added PMID:30397230 based on June 2019 DD-G2P update for CHD3. Removed PMID:29463886 as it is no longer listed as a reference in DD-G2P for CHD3.
DDG2P v1.70 CHD3 Rebecca Foulger Publications for gene: CHD3 were set to 29463886
DDG2P v1.69 CHD3 Rebecca Foulger Added comment: Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame.
DDG2P v1.69 CHD3 Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Apraxia of speech
DDG2P v1.68 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
DDG2P v1.68 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
DDG2P v1.66 FMR1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P mode of inheritance is hemizygous for FRAGILE X SYNDROME (confirmed); hemizygous for FRAGILE X TREMOR/ATAXIA SYNDROME (both DD and IF); x-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (both DD and IF).
DDG2P v1.66 FMR1 Rebecca Foulger Mode of inheritance for gene: FMR1 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)
DDG2P v1.65 EFNB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels.
DDG2P v1.65 EFNB1 Rebecca Foulger Mode of inheritance for gene: EFNB1 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.64 ADAR Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is biallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; monoallelic for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY. Both disorders have a confirmed Disease confidence rating.
DDG2P v1.64 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.63 ADAR Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating.
DDG2P v1.63 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.62 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating.
DDG2P v1.62 ALDH18A1 Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.61 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME.
DDG2P v1.61 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.60 GJC2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating.
DDG2P v1.60 GJC2 Rebecca Foulger Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.59 IHH Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for ACROCAPITOFEMORAL DYSPLASIA; confirmed for BRACHYDACTYLY, TYPE A1. Both diseases have a confirmed Disease confidence rating.
DDG2P v1.59 IHH Rebecca Foulger Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.58 ITPR1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed Gillespie Syndrome.
DDG2P v1.58 ITPR1 Rebecca Foulger Mode of inheritance for gene: ITPR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.57 KIF1A Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (all missense/in frame); biallelic for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (loss of function).
DDG2P v1.57 KIF1A Rebecca Foulger Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.56 LRP5 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P lists MOI as monoallelic for ENDOSTEAL HYPEROSTOSIS WORTH TYPE; monoallelic for HIGH BONE MASS TRAIT; monoallelic for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; biallelic for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; monoallelic for VITREORETINOPATHY EXUDATIVE TYPE 4. All diseases have a confirmed Disease confidence rating.
DDG2P v1.56 LRP5 Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.55 MAB21L2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MICROPHTHALMIA, SYNDROMIC 14 is listed as monoallelic for an activating mutation consequence, and biallelic for a LOF mutation consequence.
DDG2P v1.55 MAB21L2 Rebecca Foulger Mode of inheritance for gene: MAB21L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.54 MMP13 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for METAPHYSEAL ANADYSPLASIA TYPE 1; monoallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE. Both diseases have a Confirmed Disease Confidence rating.
DDG2P v1.54 MMP13 Rebecca Foulger Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.53 NALCN Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating.
DDG2P v1.53 NALCN Rebecca Foulger Mode of inheritance for gene: NALCN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.52 PIEZO2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating.
DDG2P v1.52 PIEZO2 Rebecca Foulger Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.51 PIK3R1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; monoallelic for SHORT SYNDROME. Both syndromes have a Disease confidence rating of 'confirmed'.
DDG2P v1.51 PIK3R1 Rebecca Foulger Mode of inheritance for gene: PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.50 PTH1R Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating.
DDG2P v1.50 PTH1R Rebecca Foulger Mode of inheritance for gene: PTH1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.49 FLNA Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as hemizygous mosaic for Childhood Interstitial Lung Disease; x-linked dominant for EPILEPTIC ENCEPHALOPATHY; hemizygous for FG SYNDROME TYPE 2; x-linked dominant for MELNICK-NEEDLES SYNDROME; hemizygous for FRONTOMETAPHYSEAL DYSPLASIA; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 1; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 2; hemizygous for TERMINAL OSSEOUS DYSPLASIA; hemizygous for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION. All disorders have a Confirmed Disease confidence rating.
DDG2P v1.49 FLNA Rebecca Foulger Mode of inheritance for gene: FLNA 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)
DDG2P v1.48 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P records an MOI of hemizygous for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. DDG2P records an MOI of monoallelic for INCONTINENTIA PIGMENTI 308300.
DDG2P v1.48 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG 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)
DDG2P v1.47 NSDHL Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, the MOI is recorded as hemizygous for CK SYNDROME and x-linked dominant for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS.
DDG2P v1.47 NSDHL Rebecca Foulger Mode of inheritance for gene: NSDHL 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)
DDG2P v1.46 PDHA1 Rebecca Foulger Added comment: Comment on mode of inheritance: IN DDG2P, the MOI is listed as hemizygous for INTELLECTUAL DISABILTIY (note typo in DDG2P disease name); x-linked dominant for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; hemizygous for X-LINKED LEIGH SYNDROME. All disorders have a confirmed Disease confidence rating. Therefore have selected an X-linked dominant MOI in PanelApp so all cases can be caught.
DDG2P v1.46 PDHA1 Rebecca Foulger Mode of inheritance for gene: PDHA1 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)
DDG2P v1.45 KDM3B Rebecca Foulger commented on gene: KDM3B
DDG2P v1.45 KDM3B Rebecca Foulger gene: KDM3B was added
gene: KDM3B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to KDM3B-related intellectual disability, short stature and facial dysmorphism
DDG2P v1.44 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
DDG2P v1.44 MUT Louise Daugherty commented on gene: MUT
DDG2P v1.44 SMAD6 Rebecca Foulger Classified gene: SMAD6 as Red List (low evidence)
DDG2P v1.44 SMAD6 Rebecca Foulger Added comment: Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function.
DDG2P v1.44 SMAD6 Rebecca Foulger Gene: smad6 has been classified as Red List (Low Evidence).
DDG2P v1.43 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.43 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.42 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
DDG2P v1.42 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
DDG2P v1.41 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
DDG2P v1.41 APOPT1 Louise Daugherty commented on gene: APOPT1
DDG2P v1.41 FUK Louise Daugherty Tag new-gene-name tag was added to gene: FUK.
DDG2P v1.41 FUK Louise Daugherty commented on gene: FUK
DDG2P v1.41 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
DDG2P v1.41 SIM1 Rebecca Foulger Tag multifactorial tag was added to gene: SIM1.
DDG2P v1.41 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665).
DDG2P v1.41 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.40 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
DDG2P v1.40 SPTBN2 Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.39 SPTBN2 Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2.
DDG2P v1.39 SPTBN2 Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'.
DDG2P v1.39 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
DDG2P v1.39 C11orf70 Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.38 C11orf70 Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70.
DDG2P v1.38 C11orf70 Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
DDG2P v1.38 ATP5D Rebecca Foulger commented on gene: ATP5D: Added 'new-gene-name' tag: ATP5D has a new gene symbol in HGNC: ATP5F1D.
DDG2P v1.38 ATP5D Rebecca Foulger Tag new-gene-name tag was added to gene: ATP5D.
DDG2P v1.38 ZMIZ1 Rebecca Foulger reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 WASF1 Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 VPS53 Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRRAP Rebecca Foulger reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRPV6 Rebecca Foulger reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TOP3A Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TMEM94 Rebecca Foulger reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SUZ12 Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SPTBN2 Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SOX4 Rebecca Foulger reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SMARCC2 Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SIM1 Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RNF13 Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RMI1 Rebecca Foulger reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RHOBTB2 Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PUS7 Rebecca Foulger reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PRR12 Rebecca Foulger reviewed gene: PRR12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PPP2CA Rebecca Foulger reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PMPCB Rebecca Foulger reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PIGS Rebecca Foulger reviewed gene: PIGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PAK1 Rebecca Foulger reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NPR3 Rebecca Foulger reviewed gene: NPR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFB8 Rebecca Foulger reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFA6 Rebecca Foulger reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NCAPG2 Rebecca Foulger reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NBEA Rebecca Foulger reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MYF5 Rebecca Foulger reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MRPS2 Rebecca Foulger reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MED13 Rebecca Foulger reviewed gene: MED13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MAPK8IP3 Rebecca Foulger reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MACF1 Rebecca Foulger reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 LNPK Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 IRF2BPL Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 GAS2L2 Rebecca Foulger reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUT8 Rebecca Foulger reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUK Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FDFT1 Rebecca Foulger reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXTL3 Rebecca Foulger reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXOSC9 Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EPRS Rebecca Foulger reviewed gene: EPRS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DNAH9 Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DHPS Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CNPY3 Rebecca Foulger reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 C11orf70 Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCNK Rebecca Foulger reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCDC47 Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CARS Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1E1 Rebecca Foulger reviewed gene: ATP6V1E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1A Rebecca Foulger reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP5D Rebecca Foulger reviewed gene: ATP5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP1A1 Rebecca Foulger reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ARL3 Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADPRHL2 Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADAMTS9 Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.37 ZMIZ1 Rebecca Foulger gene: ZMIZ1 was added
gene: ZMIZ1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Syndromic Neurodevelopmental Disorder
DDG2P v1.37 WASF1 Rebecca Foulger gene: WASF1 was added
gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASF1 were set to 29961568
Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures
DDG2P v1.37 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 30100179; 24577744
Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2
DDG2P v1.37 TRRAP Rebecca Foulger gene: TRRAP was added
gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability
Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments
DDG2P v1.37 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism
DDG2P v1.37 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
DDG2P v1.37 TMEM94 Rebecca Foulger gene: TMEM94 was added
gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism
DDG2P v1.37 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
DDG2P v1.37 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs
DDG2P v1.37 SOX4 Rebecca Foulger gene: SOX4 was added
gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism
Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments
DDG2P v1.37 SMARCC2 Rebecca Foulger gene: SMARCC2 was added
gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay
DDG2P v1.37 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
DDG2P v1.37 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
DDG2P v1.37 RNF13 Rebecca Foulger gene: RNF13 was added
gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive
Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments
DDG2P v1.37 RMI1 Rebecca Foulger gene: RMI1 was added
gene: RMI1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RMI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMI1 were set to 30193137
Phenotypes for gene: RMI1 were set to Bloom Syndrome like Disorder
DDG2P v1.37 RHOBTB2 Rebecca Foulger gene: RHOBTB2 was added
gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004
Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy
Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments
DDG2P v1.37 PUS7 Rebecca Foulger gene: PUS7 was added
gene: PUS7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862
Phenotypes for gene: PUS7 were set to Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior
DDG2P v1.37 PRR12 Rebecca Foulger gene: PRR12 was added
gene: PRR12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRR12 was set to
Publications for gene: PRR12 were set to 29556724; 26163108
Phenotypes for gene: PRR12 were set to Intellectual disability and iris abnormalities
DDG2P v1.37 PPP2CA Rebecca Foulger gene: PPP2CA was added
gene: PPP2CA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders
DDG2P v1.37 PMPCB Rebecca Foulger gene: PMPCB was added
gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood
Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments
DDG2P v1.37 PIGS Rebecca Foulger gene: PIGS was added
gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
DDG2P v1.37 PAK1 Rebecca Foulger gene: PAK1 was added
gene: PAK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Neurodevelopmental Disorder
Mode of pathogenicity for gene: PAK1 was set to Other - please provide details in the comments
DDG2P v1.37 NPR3 Rebecca Foulger gene: NPR3 was added
gene: NPR3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985
Phenotypes for gene: NPR3 were set to Enhanced Growth and Connective Tissue Abnormalities
DDG2P v1.37 NDUFB8 Rebecca Foulger gene: NDUFB8 was added
gene: NDUFB8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571
Phenotypes for gene: NDUFB8 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010
DDG2P v1.37 NDUFA6 Rebecca Foulger gene: NDUFA6 was added
gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency
DDG2P v1.37 NCAPG2 Rebecca Foulger gene: NCAPG2 was added
gene: NCAPG2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Severe Neurodevelopmental Syndrome
Mode of pathogenicity for gene: NCAPG2 was set to Other - please provide details in the comments
DDG2P v1.37 NBEA Rebecca Foulger gene: NBEA was added
gene: NBEA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351
Phenotypes for gene: NBEA were set to NBEA Neurodevelopment disorder with seizures
DDG2P v1.37 MYF5 Rebecca Foulger gene: MYF5 was added
gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to 29887215
Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies
DDG2P v1.37 MRPS2 Rebecca Foulger gene: MRPS2 was added
gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments
DDG2P v1.37 MED13 Rebecca Foulger gene: MED13 was added
gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13 were set to 29740699
Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder
DDG2P v1.37 MAPK8IP3 Rebecca Foulger gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies
DDG2P v1.37 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Defects in Neuronal Migration and Axon Guidance
Mode of pathogenicity for gene: MACF1 was set to Other - please provide details in the comments
DDG2P v1.37 LNPK Rebecca Foulger gene: LNPK was added
gene: LNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983
Phenotypes for gene: LNPK were set to Recessive Neurodevelopmental Syndrome
DDG2P v1.37 IRF2BPL Rebecca Foulger gene: IRF2BPL was added
gene: IRF2BPL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRF2BPL were set to 30193138
Phenotypes for gene: IRF2BPL were set to Neurological Phenotypes
DDG2P v1.37 GAS2L2 Rebecca Foulger gene: GAS2L2 was added
gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance
DDG2P v1.37 FUT8 Rebecca Foulger gene: FUT8 was added
gene: FUT8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital Disorder of Glycosylation with Defective Fucosylation
DDG2P v1.37 FUK Rebecca Foulger gene: FUK was added
gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION
Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments
DDG2P v1.37 FDFT1 Rebecca Foulger gene: FDFT1 was added
gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Defect in Cholesterol Biosynthesis
DDG2P v1.37 EXTL3 Rebecca Foulger gene: EXTL3 was added
gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690
Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome
Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments
DDG2P v1.37 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXOSC9 was set to
Publications for gene: EXOSC9 were set to 29727687
Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy
DDG2P v1.37 EPRS Rebecca Foulger gene: EPRS was added
gene: EPRS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217
Phenotypes for gene: EPRS were set to Hypomyelinating Leukodystrophy
DDG2P v1.37 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
DDG2P v1.37 DHPS Rebecca Foulger gene: DHPS was added
gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination
Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments
DDG2P v1.37 CNPY3 Rebecca Foulger gene: CNPY3 was added
gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNPY3 were set to 29394991
Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v1.37 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v1.37 CCNK Rebecca Foulger gene: CCNK was added
gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCNK were set to 30122539
Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
DDG2P v1.37 CCDC47 Rebecca Foulger gene: CCDC47 was added
gene: CCDC47 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
DDG2P v1.37 CARS Rebecca Foulger gene: CARS was added
gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to 30824121
Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails
DDG2P v1.37 ATP6V1E1 Rebecca Foulger gene: ATP6V1E1 was added
gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1E1 were set to 28065471
Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments
DDG2P v1.37 ATP6V1A Rebecca Foulger gene: ATP6V1A was added
gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 28065471
Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments
DDG2P v1.37 ATP5D Rebecca Foulger gene: ATP5D was added
gene: ATP5D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to ATP5F1D metabolic disorder
Mode of pathogenicity for gene: ATP5D was set to Other - please provide details in the comments
DDG2P v1.37 ATP1A1 Rebecca Foulger gene: ATP1A1 was added
gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments
DDG2P v1.37 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
DDG2P v1.37 ARL3 Rebecca Foulger gene: ARL3 was added
gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812
Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615
Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments
DDG2P v1.37 ADPRHL2 Rebecca Foulger gene: ADPRHL2 was added
gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30388405; 30401461
Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v1.37 ADAMTS9 Rebecca Foulger gene: ADAMTS9 was added
gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy
Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments
DDG2P v1.36 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal to CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.35 XYLT1 Rebecca Foulger Publications for gene: XYLT1 were set to 24581741
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019).
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic.
DDG2P v1.34 XYLT1 Rebecca Foulger Tag watchlist tag was added to gene: XYLT1.
DDG2P v1.34 XYLT1 Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome
DDG2P v1.33 TRAF7 Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism).
DDG2P v1.33 TRAF7 Rebecca Foulger Publications for gene: TRAF7 were set to 29961569
DDG2P v1.32 TRAF7 Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.32 POLR3A Rebecca Foulger Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447
DDG2P v1.31 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 to Autosomal Recessive Wiedemann Rautenstrauch Syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
DDG2P v1.30 POLR3A Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.30 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
DDG2P v1.30 PCGF2 Rebecca Foulger Tag watchlist tag was added to gene: PCGF2.
DDG2P v1.30 PCGF2 Rebecca Foulger Classified gene: PCGF2 as Green List (high evidence)
DDG2P v1.30 PCGF2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal).
DDG2P v1.30 PCGF2 Rebecca Foulger Gene: pcgf2 has been classified as Green List (High Evidence).
DDG2P v1.29 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.29 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
DDG2P v1.28 PACS2 Rebecca Foulger Publications for gene: PACS2 were set to 28867141
DDG2P v1.27 PACS2 Rebecca Foulger Classified gene: PACS2 as Amber List (moderate evidence)
DDG2P v1.27 PACS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder (the previous rating was 'possible').
DDG2P v1.27 PACS2 Rebecca Foulger Gene: pacs2 has been classified as Amber List (Moderate Evidence).
DDG2P v1.26 NFIB Rebecca Foulger Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly
DDG2P v1.25 NFIB Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry.
DDG2P v1.25 MYH3 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B.
DDG2P v1.25 MYH3 Rebecca Foulger Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence.
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.24 MYH3 Rebecca Foulger Tag watchlist tag was added to gene: MYH3.
DDG2P v1.24 MYH3 Rebecca Foulger Publications for gene: MYH3 were set to 16642020
DDG2P v1.23 MYH3 Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v1.22 LRRC56 Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable.
DDG2P v1.22 LRRC56 Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing).
DDG2P v1.22 LRRC56 Rebecca Foulger Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.21 LRRC56 Rebecca Foulger Publications for gene: LRRC56 were set to
DDG2P v1.20 KCNK4 Rebecca Foulger Classified gene: KCNK4 as Amber List (moderate evidence)
DDG2P v1.20 KCNK4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019.
DDG2P v1.20 KCNK4 Rebecca Foulger Gene: kcnk4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP).
DDG2P v1.19 KCNK4 Rebecca Foulger Tag watchlist tag was added to gene: KCNK4.
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.19 KCNK4 Rebecca Foulger Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth
DDG2P v1.18 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP.
DDG2P v1.18 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
DDG2P v1.18 FBXO11 Rebecca Foulger Classified gene: FBXO11 as Green List (high evidence)
DDG2P v1.18 FBXO11 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder.
DDG2P v1.18 FBXO11 Rebecca Foulger Gene: fbxo11 has been classified as Green List (High Evidence).
DDG2P v1.17 FBXO11 Rebecca Foulger Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder
DDG2P v1.16 FBXO11 Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
DDG2P v1.16 DSTYK Rebecca Foulger Publications for gene: DSTYK were set to 23862974
DDG2P v1.15 DSTYK Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019).
DDG2P v1.14 DSTYK Rebecca Foulger Tag watchlist tag was added to gene: DSTYK.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.14 COG4 Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition).
DDG2P v1.14 CLCN4 Rebecca Foulger Classified gene: CLCN4 as Amber List (moderate evidence)
DDG2P v1.14 CLCN4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'Possible', now 'Probable').
DDG2P v1.14 CLCN4 Rebecca Foulger Gene: clcn4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.13 CLCN4 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels.
DDG2P v1.13 CLCN4 Rebecca Foulger Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.12 CACNA1E Rebecca Foulger Classified gene: CACNA1E as Green List (high evidence)
DDG2P v1.12 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'.
DDG2P v1.12 CACNA1E Rebecca Foulger Gene: cacna1e has been classified as Green List (High Evidence).
DDG2P v1.11 CACNA1E Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.11 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505; 29575618; 28040389
DDG2P v1.10 TTN Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
DDG2P v1.10 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot.
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds.
DDG2P v1.9 TTN Lu Raymond commented on gene: TTN
DDG2P v1.9 NR2F2 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotype from 'CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779' to 'CONGENITAL HEART DEFECTS and XX sex reversal' to match DD-Gene2Phenotype.
DDG2P v1.9 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 to Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.8 ASCC1 Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v1.8 FBXW4 Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other
DDG2P v1.7 FARS2 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation).
DDG2P v1.7 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.6 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.6 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
DDG2P v1.5 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
DDG2P v1.4 EHMT1 Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528
DDG2P v1.3 EHMT1 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotypes frp, '9Q SUBTELOMERIC DELETION SYNDROME 610253' to 'Kleefstra syndrome' to reflect DD-G2P update.
DDG2P v1.3 EHMT1 Rebecca Foulger Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME 610253 to Kleefstra syndrome
DDG2P v1.2 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to X-linked to reflect change in DD-G2P, and to match other PanelApp panels.
DDG2P v1.2 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.0 Rebecca Foulger promoted panel to version 1.0
DDG2P v0.95 BGN Rebecca Foulger commented on gene: BGN: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
DDG2P v0.95 CHRNA2 Rebecca Foulger commented on gene: CHRNA2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
DDG2P v0.95 CACNB4 Rebecca Foulger commented on gene: CACNB4: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for JUVENILE MYOCLONIC EPILEPSY. CACNB4 also rated 'possible' for CACNB4-RELATED EPISODIC ATAXIA TYPE 2;CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY;EPISODIC ATAXIA TYPE 5.
DDG2P v0.95 ANO5 Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v0.95 KCNE1 Rebecca Foulger commented on gene: KCNE1: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
DDG2P v0.95 MYPN Rebecca Foulger commented on gene: MYPN: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Childhood-Onset, Slowly Progressive Nemaline Myopathy.
DDG2P v0.95 PIH1D3 Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
DDG2P v0.95 TERC Rebecca Foulger commented on gene: TERC: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Dyskeratosis congenita, autosomal dominant 1.
DDG2P v0.95 TMEM199 Rebecca Foulger commented on gene: TMEM199: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Disorder of Golgi homeostasis.
DDG2P v0.95 AFG3L2 Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE.
DDG2P v0.95 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v0.95 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v0.95 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
DDG2P v0.95 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION.
DDG2P v0.95 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
DDG2P v0.95 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
DDG2P v0.95 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v0.95 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
DDG2P v0.95 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v0.95 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
DDG2P v0.95 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
DDG2P v0.95 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Mitochondrial depletion syndrome.
DDG2P v0.95 RET Rebecca Foulger commented on gene: RET: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
DDG2P v0.95 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM.
DDG2P v0.95 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1.
DDG2P v0.95 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
DDG2P v0.95 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
DDG2P v0.95 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
DDG2P v0.95 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
DDG2P v0.95 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v0.95 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
DDG2P v0.95 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v0.95 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
DDG2P v0.95 KIT Rebecca Foulger commented on gene: KIT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HUMAN PIEBALDISM.
DDG2P v0.95 KARS Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v0.95 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
DDG2P v0.95 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v0.95 GBA Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
DDG2P v0.95 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v0.95 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v0.95 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 2.
DDG2P v0.95 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 1.
DDG2P v0.95 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
DDG2P v0.95 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for WOLFRAM SYNDROME TYPE 2.
DDG2P v0.95 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v0.95 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
DDG2P v0.95 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY.
DDG2P v0.95 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v0.95 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9.
DDG2P v0.95 AR Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.
DDG2P v0.95 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
DDG2P v0.95 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v0.95 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ACUTE HEPATIC PORPHYRIA.
DDG2P v0.95 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
DDG2P v0.95 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v0.95 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
DDG2P v0.95 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
DDG2P v0.95 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
DDG2P v0.94 FMR1 Rebecca Foulger Source Expert Review Amber was added to FMR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMAD4 Rebecca Foulger Source Expert Review Amber was added to SMAD4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TIMM8A Rebecca Foulger Source Expert Review Amber was added to TIMM8A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 THAP1 Rebecca Foulger Source Expert Review Amber was added to THAP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TGFB2 Rebecca Foulger Source Expert Review Amber was added to TGFB2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SYNE1 Rebecca Foulger Source Expert Review Amber was added to SYNE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SPTLC2 Rebecca Foulger Source Expert Review Amber was added to SPTLC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SNORD118 Rebecca Foulger Source Expert Review Amber was added to SNORD118.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMCHD1 Rebecca Foulger Source Expert Review Amber was added to SMCHD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A11 Rebecca Foulger Source Expert Review Amber was added to SLC4A11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A1 Rebecca Foulger Source Expert Review Amber was added to SLC4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RRM2B Rebecca Foulger Source Expert Review Amber was added to RRM2B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RET Rebecca Foulger Source Expert Review Amber was added to RET.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 POLD1 Rebecca Foulger Source Expert Review Amber was added to POLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PLA2G6 Rebecca Foulger Source Expert Review Amber was added to PLA2G6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PDCD10 Rebecca Foulger Source Expert Review Amber was added to PDCD10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 NR5A1 Rebecca Foulger Source Expert Review Amber was added to NR5A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYO7A Rebecca Foulger Source Expert Review Amber was added to MYO7A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH8 Rebecca Foulger Source Expert Review Amber was added to MYH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH6 Rebecca Foulger Source Expert Review Amber was added to MYH6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LMNA Rebecca Foulger Source Expert Review Amber was added to LMNA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LDB3 Rebecca Foulger Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KRIT1 Rebecca Foulger Source Expert Review Amber was added to KRIT1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KIT Rebecca Foulger Source Expert Review Amber was added to KIT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KARS Rebecca Foulger Source Expert Review Amber was added to KARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 HSPD1 Rebecca Foulger Source Expert Review Amber was added to HSPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GJB3 Rebecca Foulger Source Expert Review Amber was added to GJB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GBA Rebecca Foulger Source Expert Review Amber was added to GBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 FAM161A Rebecca Foulger Source Expert Review Amber was added to FAM161A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 DARS2 Rebecca Foulger Source Expert Review Amber was added to DARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A2 Rebecca Foulger Source Expert Review Amber was added to COL4A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A1 Rebecca Foulger Source Expert Review Amber was added to COL4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CLN6 Rebecca Foulger Source Expert Review Amber was added to CLN6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CISD2 Rebecca Foulger Source Expert Review Amber was added to CISD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CDH1 Rebecca Foulger Source Expert Review Amber was added to CDH1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA2 Rebecca Foulger Source Expert Review Amber was added to BRCA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA1 Rebecca Foulger Source Expert Review Amber was added to BRCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP1A3 Rebecca Foulger Source Expert Review Amber was added to ATP1A3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP13A2 Rebecca Foulger Source Expert Review Amber was added to ATP13A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AR Rebecca Foulger Source Expert Review Amber was added to AR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AMER1 Rebecca Foulger Source Expert Review Amber was added to AMER1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALDOB Rebecca Foulger Source Expert Review Amber was added to ALDOB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALAD Rebecca Foulger Source Expert Review Amber was added to ALAD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AIRE Rebecca Foulger Source Expert Review Amber was added to AIRE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AGXT Rebecca Foulger Source Expert Review Amber was added to AGXT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACTA2 Rebecca Foulger Source Expert Review Amber was added to ACTA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACADS Rebecca Foulger Source Expert Review Amber was added to ACADS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ABCD1 Rebecca Foulger Source Expert Review Amber was added to ABCD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.93 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
DDG2P v0.93 UFC1 Rebecca Foulger Mode of inheritance for gene: UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.92 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053).
DDG2P v0.92 SAMD9 Rebecca Foulger Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.91 RPL11 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels.
DDG2P v0.91 RPL11 Rebecca Foulger Mode of inheritance for gene: RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.90 ISPD Louise Daugherty commented on gene: ISPD
DDG2P v0.90 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
DDG2P v0.90 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive).
DDG2P v0.90 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.89 TWIST2 Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.88 TWIST2 Rebecca Foulger Classified gene: TWIST2 as Green List (high evidence)
DDG2P v0.88 TWIST2 Rebecca Foulger Gene: twist2 has been classified as Green List (High Evidence).
DDG2P v0.87 TRAF7 Rebecca Foulger Classified gene: TRAF7 as Green List (high evidence)
DDG2P v0.87 TRAF7 Rebecca Foulger Gene: traf7 has been classified as Green List (High Evidence).
DDG2P v0.86 TBCE Rebecca Foulger Classified gene: TBCE as Green List (high evidence)
DDG2P v0.86 TBCE Rebecca Foulger Gene: tbce has been classified as Green List (High Evidence).
DDG2P v0.85 SIX1 Rebecca Foulger Classified gene: SIX1 as Green List (high evidence)
DDG2P v0.85 SIX1 Rebecca Foulger Gene: six1 has been classified as Green List (High Evidence).
DDG2P v0.84 PUF60 Rebecca Foulger Classified gene: PUF60 as Green List (high evidence)
DDG2P v0.84 PUF60 Rebecca Foulger Gene: puf60 has been classified as Green List (High Evidence).
DDG2P v0.83 MYT1L Rebecca Foulger Classified gene: MYT1L as Green List (high evidence)
DDG2P v0.83 MYT1L Rebecca Foulger Gene: myt1l has been classified as Green List (High Evidence).
DDG2P v0.82 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
DDG2P v0.82 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
DDG2P v0.81 MITF Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.80 MITF Rebecca Foulger Classified gene: MITF as Green List (high evidence)
DDG2P v0.80 MITF Rebecca Foulger Gene: mitf has been classified as Green List (High Evidence).
DDG2P v0.79 MAGEL2 Rebecca Foulger Classified gene: MAGEL2 as Green List (high evidence)
DDG2P v0.79 MAGEL2 Rebecca Foulger Gene: magel2 has been classified as Green List (High Evidence).
DDG2P v0.78 MAFB Rebecca Foulger Classified gene: MAFB as Green List (high evidence)
DDG2P v0.78 MAFB Rebecca Foulger Gene: mafb has been classified as Green List (High Evidence).
DDG2P v0.77 LRP2 Rebecca Foulger Mode of inheritance for gene: LRP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.76 LRP2 Rebecca Foulger Classified gene: LRP2 as Green List (high evidence)
DDG2P v0.76 LRP2 Rebecca Foulger Gene: lrp2 has been classified as Green List (High Evidence).
DDG2P v0.75 ITPR1 Rebecca Foulger Classified gene: ITPR1 as Green List (high evidence)
DDG2P v0.75 ITPR1 Rebecca Foulger Gene: itpr1 has been classified as Green List (High Evidence).
DDG2P v0.74 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
DDG2P v0.74 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
DDG2P v0.73 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
DDG2P v0.73 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
DDG2P v0.72 GJA1 Rebecca Foulger Classified gene: GJA1 as Green List (high evidence)
DDG2P v0.72 GJA1 Rebecca Foulger Gene: gja1 has been classified as Green List (High Evidence).
DDG2P v0.71 FBN1 Rebecca Foulger Classified gene: FBN1 as Green List (high evidence)
DDG2P v0.71 FBN1 Rebecca Foulger Gene: fbn1 has been classified as Green List (High Evidence).
DDG2P v0.70 EYA1 Rebecca Foulger Classified gene: EYA1 as Green List (high evidence)
DDG2P v0.70 EYA1 Rebecca Foulger Gene: eya1 has been classified as Green List (High Evidence).
DDG2P v0.69 ERCC4 Rebecca Foulger Classified gene: ERCC4 as Green List (high evidence)
DDG2P v0.69 ERCC4 Rebecca Foulger Gene: ercc4 has been classified as Green List (High Evidence).
DDG2P v0.68 DNMT3A Rebecca Foulger Classified gene: DNMT3A as Green List (high evidence)
DDG2P v0.68 DNMT3A Rebecca Foulger Gene: dnmt3a has been classified as Green List (High Evidence).
DDG2P v0.67 DEAF1 Rebecca Foulger Classified gene: DEAF1 as Green List (high evidence)
DDG2P v0.67 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence).
DDG2P v0.66 CRYGD Rebecca Foulger Classified gene: CRYGD as Green List (high evidence)
DDG2P v0.66 CRYGD Rebecca Foulger Gene: crygd has been classified as Green List (High Evidence).
DDG2P v0.65 CRYGC Rebecca Foulger Classified gene: CRYGC as Green List (high evidence)
DDG2P v0.65 CRYGC Rebecca Foulger Gene: crygc has been classified as Green List (High Evidence).
DDG2P v0.64 CRYBA4 Rebecca Foulger Classified gene: CRYBA4 as Green List (high evidence)
DDG2P v0.64 CRYBA4 Rebecca Foulger Gene: cryba4 has been classified as Green List (High Evidence).
DDG2P v0.63 COL9A3 Rebecca Foulger Classified gene: COL9A3 as Green List (high evidence)
DDG2P v0.63 COL9A3 Rebecca Foulger Gene: col9a3 has been classified as Green List (High Evidence).
DDG2P v0.62 COL2A1 Rebecca Foulger Classified gene: COL2A1 as Green List (high evidence)
DDG2P v0.62 COL2A1 Rebecca Foulger Gene: col2a1 has been classified as Green List (High Evidence).
DDG2P v0.61 COG4 Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.60 COG4 Rebecca Foulger Classified gene: COG4 as Green List (high evidence)
DDG2P v0.60 COG4 Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence).
DDG2P v0.59 ATAD3A Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.58 ATAD3A Rebecca Foulger Classified gene: ATAD3A as Green List (high evidence)
DDG2P v0.58 ATAD3A Rebecca Foulger Gene: atad3a has been classified as Green List (High Evidence).
DDG2P v0.57 ACTB Rebecca Foulger Classified gene: ACTB as Green List (high evidence)
DDG2P v0.57 ACTB Rebecca Foulger Gene: actb has been classified as Green List (High Evidence).
DDG2P v0.55 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.; Changed rating: GREEN
DDG2P v0.55 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 SIX1 Rebecca Foulger edited their review of gene: SIX1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23.; Changed rating: GREEN
DDG2P v0.55 PUF60 Rebecca Foulger edited their review of gene: PUF60: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for PUF60 syndrome.; Changed rating: GREEN
DDG2P v0.55 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MYT1L syndrome.; Changed rating: GREEN
DDG2P v0.55 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.; Changed rating: GREEN
DDG2P v0.55 MITF Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 MAGEL2 Rebecca Foulger edited their review of gene: MAGEL2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Schaaf-Yang syndrome.; Changed rating: GREEN
DDG2P v0.55 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN
DDG2P v0.55 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 ITPR1 Rebecca Foulger edited their review of gene: ITPR1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for biallelic and monoallelic Gillespie Syndrome. MOI kept as 'both monoallelic and biallelic' .; Changed rating: GREEN
DDG2P v0.55 IL11RA Rebecca Foulger edited their review of gene: IL11RA: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Autosomal Recessive Craniosynostosis.; Changed rating: GREEN
DDG2P v0.55 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN
DDG2P v0.55 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 EYA1 Rebecca Foulger edited their review of gene: EYA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTORENAL SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.; Changed rating: GREEN
DDG2P v0.55 ERBB3 Rebecca Foulger commented on gene: ERBB3: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction.
DDG2P v0.55 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY).; Changed rating: GREEN
DDG2P v0.55 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN
DDG2P v0.55 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN
DDG2P v0.55 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN
DDG2P v0.55 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN
DDG2P v0.55 CRADD Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly.
DDG2P v0.55 COL9A3 Rebecca Foulger edited their review of gene: COL9A3: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3.; Changed rating: GREEN
DDG2P v0.55 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.; Changed rating: GREEN
DDG2P v0.55 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 CLTC Rebecca Foulger commented on gene: CLTC: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Epilepsy and intellectual disability.
DDG2P v0.55 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN
DDG2P v0.54 NPHP3 Rebecca Foulger Source DD-Gene2Phenotype was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.54 DYNC2H1 Rebecca Foulger Source DD-Gene2Phenotype was added to DYNC2H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.53 PHACTR1 Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.52 PHACTR1 Rebecca Foulger gene: PHACTR1 was added
gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder
Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments
DDG2P v0.51 CAD Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is present in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM and other PanelApp panels.
DDG2P v0.51 CAD Rebecca Foulger Mode of inheritance for gene: CAD was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.50 SMARCB1 Rebecca Foulger commented on gene: SMARCB1: MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic.
DDG2P v0.50 HECW2 Rebecca Foulger commented on gene: HECW2: Curated DDG2P update on Jan 21st 2019: Changed phenotype from 'HECW2' to 'Neurodevelopmental disorder with hypotonia, seizures, and absent language'. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame.
DDG2P v0.50 HECW2 Rebecca Foulger Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language
DDG2P v0.49 DNMT3A Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism
DDG2P v0.48 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751; 24624461; 28508599
DDG2P v0.47 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'.
DDG2P v0.47 KCNA2 Rebecca Foulger commented on gene: KCNA2: DDG2P updated 09/01/2019. Ratings remain as 'confirmed' for both the activating (gain of function) and the loss of function EPILEPTIC ENCEPHALOPATHY phenotypes.
DDG2P v0.47 KCNA2 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update from 09/01/2019: 'EPILEPTIC ENCEPHALOPATHY' phenotype replaced.
DDG2P v0.47 KCNA2 Rebecca Foulger Phenotypes for gene: KCNA2 were changed from EPILEPTIC ENCEPHALOPATHY. to EPILEPTIC ENCEPHALOPATHY Loss-of-function; EPILEPTIC ENCEPHALOPATHY Gain-of-function
DDG2P v0.46 PRRX1 Rebecca Foulger commented on gene: PRRX1: DDG2P updated 09/01/2019. Rating renains as 'possible' for both the monoallelic and biallelic disorders.
DDG2P v0.46 PRRX1 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced.
DDG2P v0.46 PRRX1 Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic
DDG2P v0.45 RPS6KA3 Rebecca Foulger commented on gene: RPS6KA3: DDG2P updated 09/01/2019. Ratings remain as 'Confirmed' for both the XLD and XLR forms of Coffin-Lowry Syndrome.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to match DDG2P update for 09/01/2019. 'COFFIN-LOWRY SYNDROME 303600' phenotype replaced.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME 303600 to Coffin-Lowry Syndrome 2 RPS6KA3 XLD; Coffin-Lowry Syndrome 2 RPS6KA3 XLR
DDG2P v0.44 HDAC8 Rebecca Foulger commented on gene: HDAC8: DDG2P updated 09/01/2019. Ratings confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes.
DDG2P v0.44 HDAC8 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to reflect DDG2P update from 09/01/2019: 'WILSON-TURNER SYNDROME 309585' phenotype was removed.
DDG2P v0.44 HDAC8 Rebecca Foulger Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME 309585; CORNELIA DE LANGE-LIKE SYNDROME to CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR; Cornelia de Lange Syndrome HDAC8 X-linked dominant
DDG2P v0.43 H3F3A Rebecca Foulger Classified gene: H3F3A as No list
DDG2P v0.43 H3F3A Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders.
DDG2P v0.43 H3F3A Rebecca Foulger Gene: h3f3a has been removed from the panel.
DDG2P v0.42 NAXD Rebecca Foulger reviewed gene: NAXD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.41 NAXD Rebecca Foulger gene: NAXD was added
gene: NAXD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAXD was set to
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Neurodegenerative disorder exacerbated by febrile illnesses
DDG2P v0.40 CHD3 Rebecca Foulger Publications for gene: CHD3 were set to
DDG2P v0.39 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751
DDG2P v0.38 SLC25A4 Rebecca Foulger Publications for gene: SLC25A4 were set to 27693233
DDG2P v0.37 TELO2 Rebecca Foulger Publications for gene: TELO2 were set to 27132593
DDG2P v0.36 RAB18 Rebecca Foulger Publications for gene: RAB18 were set to 21473985
DDG2P v0.35 RAB3GAP1 Rebecca Foulger Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543
DDG2P v0.34 AKT1 Rebecca Foulger Publications for gene: AKT1 were set to
DDG2P v0.33 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to 11402105; 11238684
DDG2P v0.32 DNMT3A Rebecca Foulger Publications for gene: DNMT3A were set to 24614070
DDG2P v0.31 BCAP31 Rebecca Foulger Publications for gene: BCAP31 were set to 24011989
DDG2P v0.30 ARID1B Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089
DDG2P v0.29 SMARCB1 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype based on DD-G2P update, from ?COFFIN-SIRIS SYNDROME 135900 to EHMT1-like SYNDROME.
DDG2P v0.29 SMARCB1 Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.28 SMARCB1 Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
DDG2P v0.27 TRIO Rebecca Foulger Publications for gene: TRIO were set to 26235986
DDG2P v0.26 TRIO Rebecca Foulger Added comment: Comment on mode of pathogenicity: DD-G2P update, curated Jan 8th 2019: mechanism changed from 'all missense/in frame' to 'uncertain'.
DDG2P v0.26 TRIO Rebecca Foulger Mode of pathogenicity for gene: TRIO was changed from Other - please provide details in the comments to None
DDG2P v0.25 MAF Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update.
DDG2P v0.25 MAF Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202
DDG2P v0.24 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders.
DDG2P v0.24 NFIA Rebecca Foulger Classified gene: NFIA as Amber List (moderate evidence)
DDG2P v0.24 NFIA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'.
DDG2P v0.24 NFIA Rebecca Foulger Gene: nfia has been classified as Amber List (Moderate Evidence).
DDG2P v0.23 NFIA Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to reflect DD-G2P update. Previous phenotype was CHROMOSOME 1P32-P31 DELETION SYNDROME 613735.
DDG2P v0.23 NFIA Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability
DDG2P v0.22 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
DDG2P v0.21 Ellen McDonagh Panel types changed to GMS Rare Disease
DDG2P v0.20 Rebecca Foulger Panel status changed from internal to public
DDG2P v0.18 SAMD9 Rebecca Foulger commented on gene: SAMD9
DDG2P v0.18 LRRC56 Rebecca Foulger commented on gene: LRRC56
DDG2P v0.18 CACNA1E Rebecca Foulger commented on gene: CACNA1E
DDG2P v0.18 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SAMD9 was set to
Publications for gene: SAMD9 were set to 28346228; 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
DDG2P v0.18 LRRC56 Rebecca Foulger gene: LRRC56 was added
gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRRC56 was set to
Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects
DDG2P v0.18 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30343943
Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
DDG2P v0.16 KLHL7 Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.15 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome
DDG2P v0.14 DNMT3A Rebecca Foulger commented on gene: DNMT3A: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.14 DNMT3A Rebecca Foulger Classified gene: DNMT3A as Amber List (moderate evidence)
DDG2P v0.14 DNMT3A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is V0 and unreviewed, based on DDG2P rating for newly added disorder: Rated confirmed by DDG2P for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), formerly called OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879. Rated probable by DDG2P for Microcephalic primordial dwarfism.
DDG2P v0.14 DNMT3A Rebecca Foulger Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
DDG2P v0.13 DNMT3A Rebecca Foulger Tag watchlist tag was added to gene: DNMT3A.
DDG2P v0.13 DNMT3A Rebecca Foulger Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism
DDG2P v0.12 COG4 Rebecca Foulger commented on gene: COG4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.12 COG4 Rebecca Foulger Tag watchlist tag was added to gene: COG4.
DDG2P v0.12 COG4 Rebecca Foulger Classified gene: COG4 as Amber List (moderate evidence)
DDG2P v0.12 COG4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is still V0 and unreviewed: Rated confirmed by DDG2P for COG4-CDG 319493, and Rated probable for recently-added Saul-Wilson syndrome.
DDG2P v0.12 COG4 Rebecca Foulger Gene: cog4 has been classified as Amber List (Moderate Evidence).
DDG2P v0.11 COG4 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'biallelic to both monoallelic and biallelic': Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.
DDG2P v0.11 COG4 Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v0.10 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG 319493 to COG4-CDG 319493; Saul-Wilson syndrome
DDG2P v0.9 SLC25A4 Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.9 LZTR1 Rebecca Foulger reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.9 RAC3 Rebecca Foulger reviewed gene: RAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.9 NFIB Rebecca Foulger reviewed gene: NFIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.9 KCNK4 Rebecca Foulger reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.9 KLHL7 Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.9 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: New gene:disorder association added to DDG2P on 07/11/2018: Saul-Wilson syndrome. Multiple DDG2P ratings: Rated confirmed for COG4-CDG 319493 and Rated probable for Saul-Wilson syndrome: Multiple MOPs in DDG2P: gain of function for Saul-Wilson syndrome, and loss of function for COG4-CDG 319493. Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.; Changed phenotypes: Saul-Wilson syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v0.9 SLC10A7 Rebecca Foulger reviewed gene: SLC10A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.9 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: New gene:disorder association added to DDG2P on 06/11/2018: Microcephalic primordial dwarfism. Multiple DDG2P ratings: Rated confirmed for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 and rated probable for Microcephalic primordial dwarfism. Multiple MOPs in DDG2P: gain of function for Microcephalic primordial dwarfism, and loss of function for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879.; Changed phenotypes: Microcephalic primordial dwarfism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.8 LZTR1 Rebecca Foulger gene: LZTR1 was added
gene: LZTR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 30368668; 29959388
Phenotypes for gene: LZTR1 were set to Noonan syndrome
Mode of pathogenicity for gene: LZTR1 was set to Other - please provide details in the comments
DDG2P v0.8 RAC3 Rebecca Foulger gene: RAC3 was added
gene: RAC3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC3 were set to 30293988
Phenotypes for gene: RAC3 were set to Neurodevelopment disorder
Mode of pathogenicity for gene: RAC3 was set to Other - please provide details in the comments
DDG2P v0.8 NFIB Rebecca Foulger gene: NFIB was added
gene: NFIB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Intellectual disability with macrocephaly
DDG2P v0.8 KCNK4 Rebecca Foulger gene: KCNK4 was added
gene: KCNK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth)
Mode of pathogenicity for gene: KCNK4 was set to Other - please provide details in the comments
DDG2P v0.8 SLC10A7 Rebecca Foulger gene: SLC10A7 was added
gene: SLC10A7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 29878199; 30082715
Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
DDG2P v0.7 DYNC2H1 Rebecca Foulger Classified gene: DYNC2H1 as Green List (high evidence)
DDG2P v0.7 DYNC2H1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Rating should have been Green in original file upload because DDG2P rating is confirmed for both disorders: ASPHYXIATING THORACIC DYSTROPHY TYPE 3, and SHORT RIB-POLYDACTYLY SYNDROME TYPE 3.
DDG2P v0.7 DYNC2H1 Rebecca Foulger Gene: dync2h1 has been classified as Green List (High Evidence).
DDG2P v0.6 NPHP3 Rebecca Foulger Classified gene: NPHP3 as Green List (high evidence)
DDG2P v0.6 NPHP3 Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green: Rating should have been Green in original fileupload since Original DDG2P rating is confirmed for all 3 DDG2P disorders; MECKEL SYNDROME TYPE 7 267010, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 and NEPHRONOPHTHISIS TYPE 3 604387.
DDG2P v0.6 NPHP3 Rebecca Foulger Gene: nphp3 has been classified as Green List (High Evidence).
DDG2P v0.4 SMAD4 Rebecca Foulger Tag watchlist was removed from gene: SMAD4.
DDG2P v0.4 SMAD4 Rebecca Foulger Deleted their comment
DDG2P v0.4 TWIST2 Rebecca Foulger Tag watchlist tag was added to gene: TWIST2.
DDG2P v0.4 TWIST2 Rebecca Foulger commented on gene: TWIST2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 TRAF7 Rebecca Foulger Tag watchlist tag was added to gene: TRAF7.
DDG2P v0.4 TRAF7 Rebecca Foulger commented on gene: TRAF7: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 TBCE Rebecca Foulger commented on gene: TBCE: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 TBCE Rebecca Foulger Tag watchlist tag was added to gene: TBCE.
DDG2P v0.4 SMAD4 Rebecca Foulger commented on gene: SMAD4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 SMAD4 Rebecca Foulger Tag watchlist tag was added to gene: SMAD4.
DDG2P v0.4 SIX1 Rebecca Foulger commented on gene: SIX1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 SIX1 Rebecca Foulger Tag watchlist tag was added to gene: SIX1.
DDG2P v0.4 PUF60 Rebecca Foulger Tag watchlist tag was added to gene: PUF60.
DDG2P v0.4 PUF60 Rebecca Foulger commented on gene: PUF60: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 MYT1L Rebecca Foulger commented on gene: MYT1L: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 MYT1L Rebecca Foulger Tag watchlist tag was added to gene: MYT1L.
DDG2P v0.4 MTOR Rebecca Foulger commented on gene: MTOR: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 MTOR Rebecca Foulger Tag watchlist tag was added to gene: MTOR.
DDG2P v0.4 MITF Rebecca Foulger commented on gene: MITF: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 MITF Rebecca Foulger Tag watchlist tag was added to gene: MITF.
DDG2P v0.4 MAGEL2 Rebecca Foulger commented on gene: MAGEL2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 MAGEL2 Rebecca Foulger Tag watchlist tag was added to gene: MAGEL2.
DDG2P v0.4 MAFB Rebecca Foulger Tag watchlist tag was added to gene: MAFB.
DDG2P v0.4 MAFB Rebecca Foulger commented on gene: MAFB: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 LRP2 Rebecca Foulger commented on gene: LRP2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 LRP2 Rebecca Foulger Tag watchlist tag was added to gene: LRP2.
DDG2P v0.4 KCNE1 Rebecca Foulger Tag watchlist tag was added to gene: KCNE1.
DDG2P v0.4 KCNE1 Rebecca Foulger commented on gene: KCNE1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 ITPR1 Rebecca Foulger Tag watchlist tag was added to gene: ITPR1.
DDG2P v0.4 ITPR1 Rebecca Foulger commented on gene: ITPR1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 IL11RA Rebecca Foulger Tag watchlist tag was added to gene: IL11RA.
DDG2P v0.4 IL11RA Rebecca Foulger commented on gene: IL11RA: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 IFIH1 Rebecca Foulger Tag watchlist tag was added to gene: IFIH1.
DDG2P v0.4 IFIH1 Rebecca Foulger commented on gene: IFIH1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 GJA1 Rebecca Foulger Tag watchlist tag was added to gene: GJA1.
DDG2P v0.4 GJA1 Rebecca Foulger commented on gene: GJA1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 FBN1 Rebecca Foulger Tag watchlist tag was added to gene: FBN1.
DDG2P v0.4 FBN1 Rebecca Foulger commented on gene: FBN1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 EYA1 Rebecca Foulger Tag watchlist tag was added to gene: EYA1.
DDG2P v0.4 EYA1 Rebecca Foulger commented on gene: EYA1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 ERCC4 Rebecca Foulger Tag watchlist tag was added to gene: ERCC4.
DDG2P v0.4 ERCC4 Rebecca Foulger commented on gene: ERCC4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 ERBB3 Rebecca Foulger Tag watchlist tag was added to gene: ERBB3.
DDG2P v0.4 ERBB3 Rebecca Foulger commented on gene: ERBB3: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 DEAF1 Rebecca Foulger Tag watchlist tag was added to gene: DEAF1.
DDG2P v0.4 DEAF1 Rebecca Foulger commented on gene: DEAF1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CRYGD Rebecca Foulger Tag watchlist tag was added to gene: CRYGD.
DDG2P v0.4 CRYGD Rebecca Foulger commented on gene: CRYGD: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CRYGC Rebecca Foulger Tag watchlist tag was added to gene: CRYGC.
DDG2P v0.4 CRYGC Rebecca Foulger commented on gene: CRYGC: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CRYBA4 Rebecca Foulger Tag watchlist tag was added to gene: CRYBA4.
DDG2P v0.4 CRYBA4 Rebecca Foulger commented on gene: CRYBA4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CRADD Rebecca Foulger Tag watchlist tag was added to gene: CRADD.
DDG2P v0.4 CRADD Rebecca Foulger commented on gene: CRADD: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 COL9A3 Rebecca Foulger Tag watchlist tag was added to gene: COL9A3.
DDG2P v0.4 COL9A3 Rebecca Foulger commented on gene: COL9A3: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 COL2A1 Rebecca Foulger Tag watchlist tag was added to gene: COL2A1.
DDG2P v0.4 COL2A1 Rebecca Foulger commented on gene: COL2A1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CLTC Rebecca Foulger Tag watchlist tag was added to gene: CLTC.
DDG2P v0.4 CLTC Rebecca Foulger commented on gene: CLTC: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CHRNA2 Rebecca Foulger Tag watchlist tag was added to gene: CHRNA2.
DDG2P v0.4 CHRNA2 Rebecca Foulger commented on gene: CHRNA2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 CACNB4 Rebecca Foulger Tag watchlist tag was added to gene: CACNB4.
DDG2P v0.4 CACNB4 Rebecca Foulger commented on gene: CACNB4: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 BGN Rebecca Foulger Tag watchlist tag was added to gene: BGN.
DDG2P v0.4 BGN Rebecca Foulger commented on gene: BGN: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
DDG2P v0.4 ATAD3A Rebecca Foulger commented on gene: ATAD3A: Added watchlist tag to highlight different DD-G2P ratings for this gene.
DDG2P v0.4 ATAD3A Rebecca Foulger Tag watchlist tag was added to gene: ATAD3A.
DDG2P v0.4 ANO5 Rebecca Foulger Tag watchlist tag was added to gene: ANO5.
DDG2P v0.4 ANO5 Rebecca Foulger commented on gene: ANO5: Added watchlist tag to highlight different DD-G2P ratings for this gene.
DDG2P v0.4 ACTB Rebecca Foulger Added comment: Comment on publications: 100000 and 22366783 provided in original DDG2P download.
DDG2P v0.4 ACTB Rebecca Foulger Publications for gene: ACTB were set to 100000
DDG2P v0.3 ACTB Rebecca Foulger commented on gene: ACTB: Added watchlist tag to highlight different DD-G2P ratings for this gene.
DDG2P v0.3 ACTB Rebecca Foulger Tag watchlist tag was added to gene: ACTB.
DDG2P v0.3 TMEM5 Rebecca Foulger Tag new-gene-name tag was added to gene: TMEM5.
DDG2P v0.3 TMEM5 Rebecca Foulger commented on gene: TMEM5: Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1.
DDG2P v0.3 C2orf71 Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE.
DDG2P v0.3 C2orf71 Rebecca Foulger Tag new-gene-name tag was added to gene: C2orf71.
DDG2P v0.3 C4orf26 Rebecca Foulger commented on gene: C4orf26: Added new-gene-name tag, new approved HGNC gene symbol is ODAPH.
DDG2P v0.3 C4orf26 Rebecca Foulger Tag new-gene-name tag was added to gene: C4orf26.
DDG2P v0.3 C5orf42 Rebecca Foulger Tag new-gene-name tag was added to gene: C5orf42.
DDG2P v0.3 C5orf42 Rebecca Foulger commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1.
DDG2P v0.3 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
DDG2P v0.3 C21orf2 Rebecca Foulger commented on gene: C21orf2: Added new-gene-name tag, new approved HGNC gene symbol is CFAP410.
DDG2P v0.3 C21orf59 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf59.
DDG2P v0.3 C21orf59 Rebecca Foulger commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol is CFAP298.
DDG2P v0.3 FAM58A Rebecca Foulger commented on gene: FAM58A: Added new-gene-name tag, new approved HGNC gene symbol is CCNQ.
DDG2P v0.3 FAM58A Rebecca Foulger Tag new-gene-name tag was added to gene: FAM58A.
DDG2P v0.3 TRAPPC12 Rebecca Foulger Tag polygenic tag was added to gene: TRAPPC12.
DDG2P v0.3 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12: polygenic tag added: In DD-G2P download, digenic MOI listed for Progressive Childhood Encephalopathy and Golgi Dysfunction.
DDG2P v0.3 MTMR14 Rebecca Foulger commented on gene: MTMR14: polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150.
DDG2P v0.3 MTMR14 Rebecca Foulger Tag polygenic tag was added to gene: MTMR14.
DDG2P v0.3 NEK1 Rebecca Foulger commented on gene: NEK1: monogenic-polygenic tag added: In DD-G2P download, both biallelic and digenic MOIs listed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520.
DDG2P v0.3 NEK1 Rebecca Foulger Tag monogenic-polygenic tag was added to gene: NEK1.
DDG2P v0.3 GNAQ Rebecca Foulger commented on gene: GNAQ: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.
DDG2P v0.3 GNAQ Rebecca Foulger Tag mosaicism tag was added to gene: GNAQ.
DDG2P v0.3 PIK3CA Rebecca Foulger Tag mosaicism tag was added to gene: PIK3CA.
DDG2P v0.3 PIK3CA Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501.
DDG2P v0.3 SMO Rebecca Foulger Tag mosaicism tag was added to gene: SMO.
DDG2P v0.3 SMO Rebecca Foulger commented on gene: SMO: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Curry-Jones Syndrome.
DDG2P v0.3 GNA14 Rebecca Foulger commented on gene: GNA14: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital vascular tumours.
DDG2P v0.3 GNA14 Rebecca Foulger Tag mosaicism tag was added to gene: GNA14.
DDG2P v0.3 GNA11 Rebecca Foulger Tag mosaicism tag was added to gene: GNA11.
DDG2P v0.3 GNA11 Rebecca Foulger commented on gene: GNA11: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital Hemangioma.
DDG2P v0.3 GNAS Rebecca Foulger Tag mosaicism tag was added to gene: GNAS.
DDG2P v0.3 GNAS Rebecca Foulger commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080.
DDG2P v0.3 FLNA Rebecca Foulger Tag mosaicism tag was added to gene: FLNA.
DDG2P v0.3 FLNA Rebecca Foulger commented on gene: FLNA: Mosaicism tag added: In DD-G2P download, hemizygous,mosaic MOI listed for Childhood Interstitial Lung Disease.
DDG2P v0.3 PTEN Rebecca Foulger Tag mosaicism tag was added to gene: PTEN.
DDG2P v0.3 PTEN Rebecca Foulger commented on gene: PTEN: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for PROTEUS SYNDROME 176920.
DDG2P v0.3 FGFR1 Rebecca Foulger Tag mosaicism tag was added to gene: FGFR1.
DDG2P v0.3 FGFR1 Rebecca Foulger commented on gene: FGFR1: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Encephalocraniocutaneous lipomatosis.
DDG2P v0.3 AKT3 Rebecca Foulger commented on gene: AKT3: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for HEMIMEGALENCEPHALY AKT3 603387.
DDG2P v0.3 AKT3 Rebecca Foulger Tag mosaicism tag was added to gene: AKT3.
DDG2P v0.3 AKT1 Rebecca Foulger commented on gene: AKT1: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for PROTEUS SYNDROME 176920.
DDG2P v0.3 AKT1 Rebecca Foulger Tag mosaicism tag was added to gene: AKT1.
DDG2P v0.2 ZSWIM6 Rebecca Foulger reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF750 Rebecca Foulger reviewed gene: ZNF750: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF713 Rebecca Foulger reviewed gene: ZNF713: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF711 Rebecca Foulger reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF599 Rebecca Foulger reviewed gene: ZNF599: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF526 Rebecca Foulger reviewed gene: ZNF526: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZNF462 Rebecca Foulger reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZMYND11 Rebecca Foulger reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZMYND10 Rebecca Foulger reviewed gene: ZMYND10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZMYM6 Rebecca Foulger reviewed gene: ZMYM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZMPSTE24 Rebecca Foulger reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZIC3 Rebecca Foulger reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZIC2 Rebecca Foulger reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZIC1 Rebecca Foulger reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZFYVE26 Rebecca Foulger reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZFPM2 Rebecca Foulger reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZFP57 Rebecca Foulger reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZEB2 Rebecca Foulger reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZEB1 Rebecca Foulger reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZDHHC9 Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZDHHC15 Rebecca Foulger reviewed gene: ZDHHC15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZCCHC8 Rebecca Foulger reviewed gene: ZCCHC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZC4H2 Rebecca Foulger reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZBTB40 Rebecca Foulger reviewed gene: ZBTB40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZBTB20 Rebecca Foulger reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZBTB18 Rebecca Foulger reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ZBTB16 Rebecca Foulger reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 YY1 Rebecca Foulger reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 YWHAG Rebecca Foulger reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 YAP1 Rebecca Foulger reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XYLT2 Rebecca Foulger reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XYLT1 Rebecca Foulger reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XRCC4 Rebecca Foulger reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XPNPEP3 Rebecca Foulger reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XPC Rebecca Foulger reviewed gene: XPC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 XPA Rebecca Foulger reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WWOX Rebecca Foulger reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WT1 Rebecca Foulger reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WRAP53 Rebecca Foulger reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT7A Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT5A Rebecca Foulger reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT4 Rebecca Foulger reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT3 Rebecca Foulger reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT10B Rebecca Foulger reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WNT1 Rebecca Foulger reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR81 Rebecca Foulger reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR73 Rebecca Foulger reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR62 Rebecca Foulger reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR60 Rebecca Foulger reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR45B Rebecca Foulger reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR45 Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR35 Rebecca Foulger reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR34 Rebecca Foulger reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR26 Rebecca Foulger reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR19 Rebecca Foulger reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDR11 Rebecca Foulger reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WDPCP Rebecca Foulger reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 WAC Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VSX2 Rebecca Foulger reviewed gene: VSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VRK1 Rebecca Foulger reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VPS33B Rebecca Foulger reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VPS13B Rebecca Foulger reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VLDLR Rebecca Foulger reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VIPAS39 Rebecca Foulger reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VIP Rebecca Foulger reviewed gene: VIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VDR Rebecca Foulger reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VANGL1 Rebecca Foulger reviewed gene: VANGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 VAC14 Rebecca Foulger reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UVSSA Rebecca Foulger reviewed gene: UVSSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UTP4 Rebecca Foulger reviewed gene: UTP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 USP9X Rebecca Foulger reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 USP7 Rebecca Foulger reviewed gene: USP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 USP27X Rebecca Foulger reviewed gene: USP27X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 USP18 Rebecca Foulger reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 USB1 Rebecca Foulger reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UROS Rebecca Foulger reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UROC1 Rebecca Foulger reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UQCRQ Rebecca Foulger reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UQCRB Rebecca Foulger reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UPF3B Rebecca Foulger reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UNC80 Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UMPS Rebecca Foulger reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UGT1A1 Rebecca Foulger reviewed gene: UGT1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UFM1 Rebecca Foulger reviewed gene: UFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UFC1 Rebecca Foulger reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBTF Rebecca Foulger reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBR7 Rebecca Foulger reviewed gene: UBR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBR1 Rebecca Foulger reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBE3B Rebecca Foulger reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBE3A Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBE2T Rebecca Foulger reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBE2A Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 UBA5 Rebecca Foulger reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TYR Rebecca Foulger reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TXNL4A Rebecca Foulger reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TWIST2 Rebecca Foulger reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TWIST1 Rebecca Foulger reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUSC3 Rebecca Foulger reviewed gene: TUSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUFM Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBGCP6 Rebecca Foulger reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBGCP4 Rebecca Foulger reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBG1 Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBB4A Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBB3 Rebecca Foulger reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBB2B Rebecca Foulger reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBB2A Rebecca Foulger reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBB Rebecca Foulger reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBA8 Rebecca Foulger reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TUBA1A Rebecca Foulger reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTN Rebecca Foulger reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTI2 Rebecca Foulger reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTC8 Rebecca Foulger reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTC7A Rebecca Foulger reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTC37 Rebecca Foulger reviewed gene: TTC37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTC25 Rebecca Foulger reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TTC19 Rebecca Foulger reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSPAN7 Rebecca Foulger reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSHZ1 Rebecca Foulger reviewed gene: TSHZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSHR Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSHB Rebecca Foulger reviewed gene: TSHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSEN54 Rebecca Foulger reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSEN34 Rebecca Foulger reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSEN2 Rebecca Foulger reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSEN15 Rebecca Foulger reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRPV3 Rebecca Foulger reviewed gene: TRPV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRPS1 Rebecca Foulger reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRPM1 Rebecca Foulger reviewed gene: TRPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRMT10C Rebecca Foulger reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRMT1 Rebecca Foulger reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIT1 Rebecca Foulger reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIP4 Rebecca Foulger reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIP13 Rebecca Foulger reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIP12 Rebecca Foulger reviewed gene: TRIP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIP11 Rebecca Foulger reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIO Rebecca Foulger reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIM37 Rebecca Foulger reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRIM32 Rebecca Foulger reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TREX1 Rebecca Foulger reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAPPC9 Rebecca Foulger reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAPPC2 Rebecca Foulger reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAPPC12 Rebecca Foulger reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAPPC11 Rebecca Foulger reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAIP Rebecca Foulger reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TRAF7 Rebecca Foulger reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TPP1 Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TPM2 Rebecca Foulger reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TP63 Rebecca Foulger reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TOE1 Rebecca Foulger reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TNFRSF13B Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMTC3 Rebecca Foulger reviewed gene: TMTC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMPRSS6 Rebecca Foulger reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM70 Rebecca Foulger reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM67 Rebecca Foulger reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM5 Rebecca Foulger reviewed gene: TMEM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM260 Rebecca Foulger reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM237 Rebecca Foulger reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM216 Rebecca Foulger reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM199 Rebecca Foulger reviewed gene: TMEM199: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM165 Rebecca Foulger reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM135 Rebecca Foulger reviewed gene: TMEM135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM126B Rebecca Foulger reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMEM114 Rebecca Foulger reviewed gene: TMEM114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TMCO1 Rebecca Foulger reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TM4SF20 Rebecca Foulger reviewed gene: TM4SF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TLL1 Rebecca Foulger reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TLK2 Rebecca Foulger reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TKT Rebecca Foulger reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TK2 Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TINF2 Rebecca Foulger reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TIMM8A Rebecca Foulger reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 THRA Rebecca Foulger reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 THOC6 Rebecca Foulger reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 THOC2 Rebecca Foulger reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 THAP1 Rebecca Foulger reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TH Rebecca Foulger reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGIF1 Rebecca Foulger reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGFBR2 Rebecca Foulger reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGFBR1 Rebecca Foulger reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGFB3 Rebecca Foulger reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGFB2 Rebecca Foulger reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGFB1 Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TGDS Rebecca Foulger reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TFRC Rebecca Foulger reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TFAP2B Rebecca Foulger reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TFAP2A Rebecca Foulger reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TERT Rebecca Foulger reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TERC Rebecca Foulger reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TELO2 Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TEK Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TECPR2 Rebecca Foulger reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TDRD7 Rebecca Foulger reviewed gene: TDRD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCTN3 Rebecca Foulger reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCTN2 Rebecca Foulger reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCTN1 Rebecca Foulger reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCOF1 Rebecca Foulger reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCN2 Rebecca Foulger reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCF4 Rebecca Foulger reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCF20 Rebecca Foulger reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TCF12 Rebecca Foulger reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBXAS1 Rebecca Foulger reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX5 Rebecca Foulger reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX4 Rebecca Foulger reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX3 Rebecca Foulger reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX22 Rebecca Foulger reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX20 Rebecca Foulger reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX18 Rebecca Foulger reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX15 Rebecca Foulger reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBX1 Rebecca Foulger reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBR1 Rebecca Foulger reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBL1XR1 Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBCK Rebecca Foulger reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBCE Rebecca Foulger reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBCD Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBC1D24 Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBC1D23 Rebecca Foulger reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TBC1D20 Rebecca Foulger reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAZ Rebecca Foulger reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAT Rebecca Foulger reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAPT1 Rebecca Foulger reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TANGO2 Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAF2 Rebecca Foulger reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAF13 Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAF1 Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TACR3 Rebecca Foulger reviewed gene: TACR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TACO1 Rebecca Foulger reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAC3 Rebecca Foulger reviewed gene: TAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 TAB2 Rebecca Foulger reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SZT2 Rebecca Foulger reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SYT1 Rebecca Foulger reviewed gene: SYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SYP Rebecca Foulger reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SYNGAP1 Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SYNE1 Rebecca Foulger reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SYN1 Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SURF1 Rebecca Foulger reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SUMO1 Rebecca Foulger reviewed gene: SUMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SUMF1 Rebecca Foulger reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SUFU Rebecca Foulger reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SUCLG1 Rebecca Foulger reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STXBP1 Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STX1B Rebecca Foulger reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STT3B Rebecca Foulger reviewed gene: STT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STT3A Rebecca Foulger reviewed gene: STT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STS Rebecca Foulger reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STRA6 Rebecca Foulger reviewed gene: STRA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STN1 Rebecca Foulger reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STIM1 Rebecca Foulger reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STIL Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAT5B Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAT2 Rebecca Foulger reviewed gene: STAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAR Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAMBP Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAG2 Rebecca Foulger reviewed gene: STAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 STAG1 Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ST3GAL5 Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ST3GAL3 Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ST14 Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRY Rebecca Foulger reviewed gene: SRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRPX2 Rebecca Foulger reviewed gene: SRPX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRP54 Rebecca Foulger reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRGAP3 Rebecca Foulger reviewed gene: SRGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRD5A3 Rebecca Foulger reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SRCAP Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPTAN1 Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPRTN Rebecca Foulger reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPG11 Rebecca Foulger reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPEG Rebecca Foulger reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPECC1L Rebecca Foulger reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPATA5 Rebecca Foulger reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPARC Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPAG1 Rebecca Foulger reviewed gene: SPAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX9 Rebecca Foulger reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX5 Rebecca Foulger reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX3 Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX2 Rebecca Foulger reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX17 Rebecca Foulger reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX11 Rebecca Foulger reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOX10 Rebecca Foulger reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOS1 Rebecca Foulger reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SON Rebecca Foulger reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SOBP Rebecca Foulger reviewed gene: SOBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNX3 Rebecca Foulger reviewed gene: SNX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNX14 Rebecca Foulger reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNRPE Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNRPB Rebecca Foulger reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNORD118 Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNIP1 Rebecca Foulger reviewed gene: SNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNAP29 Rebecca Foulger reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SNAP25 Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMS Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMPD1 Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMOC2 Rebecca Foulger reviewed gene: SMOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMOC1 Rebecca Foulger reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMO Rebecca Foulger reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMG9 Rebecca Foulger reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMCHD1 Rebecca Foulger reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMC3 Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMC1A Rebecca Foulger reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCE1 Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCAL1 Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCA2 Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMAD6 Rebecca Foulger reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMAD4 Rebecca Foulger reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMAD3 Rebecca Foulger reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMAD2 Rebecca Foulger reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLX4 Rebecca Foulger reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC9A9 Rebecca Foulger reviewed gene: SLC9A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC9A6 Rebecca Foulger reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A9 Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A8 Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A3 Rebecca Foulger reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A17 Rebecca Foulger reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC6A1 Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC5A7 Rebecca Foulger reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC5A5 Rebecca Foulger reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC52A3 Rebecca Foulger reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC52A2 Rebecca Foulger reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC4A4 Rebecca Foulger reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC4A11 Rebecca Foulger reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC4A1 Rebecca Foulger reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC46A1 Rebecca Foulger reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC45A1 Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC39A8 Rebecca Foulger reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC39A13 Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC35D1 Rebecca Foulger reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC35C1 Rebecca Foulger reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC35A2 Rebecca Foulger reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC35A1 Rebecca Foulger reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC33A1 Rebecca Foulger reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC31A1 Rebecca Foulger reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC2A2 Rebecca Foulger reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC2A10 Rebecca Foulger reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC27A4 Rebecca Foulger reviewed gene: SLC27A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC26A2 Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A4 Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A38 Rebecca Foulger reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A26 Rebecca Foulger reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A24 Rebecca Foulger reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A22 Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A20 Rebecca Foulger reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A19 Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC25A15 Rebecca Foulger reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC24A4 Rebecca Foulger reviewed gene: SLC24A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC24A1 Rebecca Foulger reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC22A5 Rebecca Foulger reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC1A2 Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC19A3 Rebecca Foulger reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC17A5 Rebecca Foulger reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC16A2 Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC13A5 Rebecca Foulger reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC12A6 Rebecca Foulger reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SLC12A5 Rebecca Foulger reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SKIV2L Rebecca Foulger reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SKI Rebecca Foulger reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX6 Rebecca Foulger reviewed gene: SIX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX5 Rebecca Foulger reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX3 Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX1 Rebecca Foulger reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIN3A Rebecca Foulger reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIL1 Rebecca Foulger reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIK1 Rebecca Foulger reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHROOM3 Rebecca Foulger reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHOX Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK3 Rebecca Foulger reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK2 Rebecca Foulger reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK1 Rebecca Foulger reviewed gene: SHANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SH3PXD2B Rebecca Foulger reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SH3BP2 Rebecca Foulger reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SGSH Rebecca Foulger reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SF3B4 Rebecca Foulger reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD2 Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD1A Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SET Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SELENOI Rebecca Foulger reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SECISBP2 Rebecca Foulger reviewed gene: SECISBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC61A1 Rebecca Foulger reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC24D Rebecca Foulger reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC23B Rebecca Foulger reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC23A Rebecca Foulger reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDHAF1 Rebecca Foulger reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDCCAG8 Rebecca Foulger reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCYL1 Rebecca Foulger reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCRIB Rebecca Foulger reviewed gene: SCRIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCO2 Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCO1 Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN3A Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN2A Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN1B Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCARF2 Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCAPER Rebecca Foulger reviewed gene: SCAPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SC5D Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SBDS Rebecca Foulger reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SATB2 Rebecca Foulger reviewed gene: SATB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SAMHD1 Rebecca Foulger reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SAMD9L Rebecca Foulger reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SALL4 Rebecca Foulger reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SALL1 Rebecca Foulger reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SACS Rebecca Foulger reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RYR3 Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RUNX2 Rebecca Foulger reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RUBCN Rebecca Foulger reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTTN Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTN4IP1 Rebecca Foulger reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTEL1 Rebecca Foulger reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPRY1 Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPO4 Rebecca Foulger reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPO2 Rebecca Foulger reviewed gene: RSPO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPH3 Rebecca Foulger reviewed gene: RSPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPH1 Rebecca Foulger reviewed gene: RSPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RRM2B Rebecca Foulger reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RRAS Rebecca Foulger reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS6KA3 Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS23 Rebecca Foulger reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS19 Rebecca Foulger reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPL11 Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPGRIP1L Rebecca Foulger reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPGRIP1 Rebecca Foulger reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPE65 Rebecca Foulger reviewed gene: RPE65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RORA Rebecca Foulger reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROR2 Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROGDI Rebecca Foulger reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROBO3 Rebecca Foulger reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF168 Rebecca Foulger reviewed gene: RNF168: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF135 Rebecca Foulger reviewed gene: RNF135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF113A Rebecca Foulger reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASET2 Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2C Rebecca Foulger reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2B Rebecca Foulger reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2A Rebecca Foulger reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RMRP Rebecca Foulger reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RLIM Rebecca Foulger reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIPK4 Rebecca Foulger reviewed gene: RIPK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIN2 Rebecca Foulger reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RGS7 Rebecca Foulger reviewed gene: RGS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RFX6 Rebecca Foulger reviewed gene: RFX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RFT1 Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RET Rebecca Foulger reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RERE Rebecca Foulger reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RELN Rebecca Foulger reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBPJ Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM8A Rebecca Foulger reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM28 Rebecca Foulger reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM10 Rebecca Foulger reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAX Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARS2 Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARB Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAPSN Rebecca Foulger reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RANBP2 Rebecca Foulger reviewed gene: RANBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RALGDS Rebecca Foulger reviewed gene: RALGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAI1 Rebecca Foulger reviewed gene: RAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD51C Rebecca Foulger reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD51 Rebecca Foulger reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD50 Rebecca Foulger reviewed gene: RAD50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD21 Rebecca Foulger reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAC1 Rebecca Foulger reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RABL6 Rebecca Foulger reviewed gene: RABL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB3GAP2 Rebecca Foulger reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB3GAP1 Rebecca Foulger reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB39B Rebecca Foulger reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB23 Rebecca Foulger reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB18 Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB11A Rebecca Foulger reviewed gene: RAB11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QRICH1 Rebecca Foulger reviewed gene: QRICH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QKI Rebecca Foulger reviewed gene: QKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QDPR Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYROXD1 Rebecca Foulger reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYGL Rebecca Foulger reviewed gene: PYGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYCR2 Rebecca Foulger reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYCR1 Rebecca Foulger reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PXDN Rebecca Foulger reviewed gene: PXDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PURA Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PUF60 Rebecca Foulger reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTS Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPRF Rebecca Foulger reviewed gene: PTPRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPN14 Rebecca Foulger reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTHLH Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTH1R Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTH Rebecca Foulger reviewed gene: PTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTF1A Rebecca Foulger reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTDSS1 Rebecca Foulger reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTCHD1 Rebecca Foulger reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSMD12 Rebecca Foulger reviewed gene: PSMD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSAT1 Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSAP Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRUNE1 Rebecca Foulger reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRSS56 Rebecca Foulger reviewed gene: PRSS56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRSS12 Rebecca Foulger reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRRX1 Rebecca Foulger reviewed gene: PRRX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRPS1 Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PROP1 Rebecca Foulger reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRMT9 Rebecca Foulger reviewed gene: PRMT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRMT7 Rebecca Foulger reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRKD1 Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PREPL Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRDM6 Rebecca Foulger reviewed gene: PRDM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PQBP1 Rebecca Foulger reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPT1 Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP2R5D Rebecca Foulger reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP2R1A Rebecca Foulger reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP1R15B Rebecca Foulger reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP1CB Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPM1D Rebecca Foulger reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPA2 Rebecca Foulger reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POU1F1 Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POT1 Rebecca Foulger reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMT2 Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMT1 Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMP Rebecca Foulger reviewed gene: POMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMGNT2 Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR3B Rebecca Foulger reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR3A Rebecca Foulger reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1D Rebecca Foulger reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1C Rebecca Foulger reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1A Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLG Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLD1 Rebecca Foulger reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POGZ Rebecca Foulger reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POC1B Rebecca Foulger reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POC1A Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPT1 Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPLA2 Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNKP Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PMS2 Rebecca Foulger reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PMM2 Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLXND1 Rebecca Foulger reviewed gene: PLXND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLPBP Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLP1 Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD3 Rebecca Foulger reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD2 Rebecca Foulger reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD1 Rebecca Foulger reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLK4 Rebecca Foulger reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLEC Rebecca Foulger reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCG2 Rebecca Foulger reviewed gene: PLCG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCE1 Rebecca Foulger reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCB4 Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCB1 Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLAA Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLA2G6 Rebecca Foulger reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PKHD1 Rebecca Foulger reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PKD1L1 Rebecca Foulger reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX3 Rebecca Foulger reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX2 Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX1 Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIP5K1C Rebecca Foulger reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3R1 Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIH1D3 Rebecca Foulger reviewed gene: PIH1D3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGY Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGW Rebecca Foulger reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGV Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGT Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGQ Rebecca Foulger reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGO Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGN Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGM Rebecca Foulger reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGL Rebecca Foulger reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGG Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGA Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIEZO2 Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIEZO1 Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHOX2B Rebecca Foulger reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHIP Rebecca Foulger reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHGDH Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF8 Rebecca Foulger reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF6 Rebecca Foulger reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF21A Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHC1 Rebecca Foulger reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGM3 Rebecca Foulger reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGM1 Rebecca Foulger reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGK1 Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP3 Rebecca Foulger reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP2 Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP1 Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX6 Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX5 Rebecca Foulger reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX3 Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX26 Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX2 Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX19 Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX16 Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX14 Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX13 Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX12 Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX11B Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX10 Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX1 Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PET100 Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEPD Rebecca Foulger reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PECR Rebecca Foulger reviewed gene: PECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDSS2 Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDSS1 Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDHX Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDGFRB Rebecca Foulger reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE6H Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE6G Rebecca Foulger reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE4D Rebecca Foulger reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDCD10 Rebecca Foulger reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCYT1A Rebecca Foulger reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCNT Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCGF2 Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCBD1 Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PC Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX9 Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX8 Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX6 Rebecca Foulger reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX2 Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARP1 Rebecca Foulger reviewed gene: PARP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARN Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAPSS2 Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAK3 Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAH Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PACS2 Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 P4HB Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 P3H1 Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OXCT1 Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTX2 Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTULIN Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTUD7A Rebecca Foulger reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTUD6B Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTOGL Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTC Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OSGEP Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC6 Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC4 Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC1 Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OPHN1 Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OCRL Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OBSL1 Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NYX Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUS1 Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUP62 Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUP107 Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NT5C3A Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSUN2 Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSMCE3 Rebecca Foulger reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN3 Rebecca Foulger reviewed gene: NRXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN2 Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR5A1 Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR2F2 Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR2F1 Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR1I3 Rebecca Foulger reviewed gene: NR1I3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPR2 Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHS2 Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHS1 Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP4 Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP3 Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP1 Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPC2 Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPC1 Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOVA2 Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH3 Rebecca Foulger reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH2 Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH1 Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOP10 Rebecca Foulger reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NONO Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOG Rebecca Foulger reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NODAL Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NMNAT1 Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLRP5 Rebecca Foulger reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLGN4X Rebecca Foulger reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLGN3 Rebecca Foulger reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX6-2 Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX3-2 Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX2-5 Rebecca Foulger reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NIPBL Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NHS Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NHP2 Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFU1 Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFIX Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFIA Rebecca Foulger reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NF1 Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEXMIF Rebecca Foulger reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEU1 Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEK8 Rebecca Foulger reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEK1 Rebecca Foulger reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEDD4L Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NECTIN4 Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NECTIN1 Rebecca Foulger reviewed gene: NECTIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEB Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS8 Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFAF2 Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA9 Rebecca Foulger reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDST1 Rebecca Foulger reviewed gene: NDST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDP Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDE1 Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPH Rebecca Foulger reviewed gene: NCAPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPD3 Rebecca Foulger reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPD2 Rebecca Foulger reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NBN Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NBAS Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAXE Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NANS Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NALCN Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAGS Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: