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DDG2P v3.11 SRY Achchuthan Shanmugasundram Publications for gene: SRY were updated from 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689 to 8105086; 2247151; 1639410; 10852465; 1956279; 1339396; 7987333; 1619028; 2247149; 9443877; 1483689; 9521592; 7985018; 1570829; 9150734; 12107262
DDG2P v3.11 SRSF1 Achchuthan Shanmugasundram gene: SRSF1 was added
gene: SRSF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRSF1 were set to SRSF1-related developmental disorder (monoallelic)
DDG2P v3.11 SRRM2 Achchuthan Shanmugasundram gene: SRRM2 was added
gene: SRRM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRRM2 were set to 33057194; 35567594
Phenotypes for gene: SRRM2 were set to SRRM2-related developmental disorder (monoallelic)
DDG2P v3.11 SRPX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SRPX2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SRP54 Achchuthan Shanmugasundram Source Expert Review Green was added to SRP54.
Mode of pathogenicity for gene SRP54 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SRD5A3 Achchuthan Shanmugasundram Publications for gene: SRD5A3 were updated from 20637498; 18271001 to 18271001; 30019980; 20637498
DDG2P v3.11 SRCAP Achchuthan Shanmugasundram Publications for gene: SRCAP were updated from 20358590; 22265015 to 33909990; 20358590; 30425916; 23621943; 22265015; 30304910; 24375913; 23763483; 22965468; 23165645; 25433523; 26788936
DDG2P v3.11 SPTLC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SPTLC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SPTBN4 Achchuthan Shanmugasundram gene: SPTBN4 was added
gene: SPTBN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105; 28940097; 31857255; 31230720
Phenotypes for gene: SPTBN4 were set to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519
DDG2P v3.11 SPTBN2 Achchuthan Shanmugasundram Mode of inheritance for gene SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were updated from 25981959; 22914369; 29795474 to 29795474; 22914369; 25981959
DDG2P v3.11 SPTBN1 Achchuthan Shanmugasundram gene: SPTBN1 was added
gene: SPTBN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTBN1 were set to 34211179; 33847457
Phenotypes for gene: SPTBN1 were set to SPTBN1-related developmental disorder (monoallelic)
DDG2P v3.11 SPTAN1 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTAN1.
Publications for gene: SPTAN1 were updated from 22258530; 20493457 to 36331550; 34590414; 22258530; 20493457; 29050398
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SPRY1 Achchuthan Shanmugasundram gene: SPRY1 was added
gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRY1 were set to 36543535
Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies
Mode of pathogenicity for gene: SPRY1 was set to Other
DDG2P v3.11 SPRTN Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to SPRED2-related Noonan syndrome
DDG2P v3.11 SPRED1 Achchuthan Shanmugasundram Publications for gene: SPRED1 were updated from 19366998; 17704776; 21649642; 19443465 to 17704776; 19443465; 21649642; 19366998
DDG2P v3.11 SPOP Achchuthan Shanmugasundram gene: SPOP was added
gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative
Mode of pathogenicity for gene: SPOP was set to Other
DDG2P v3.11 SPG11 Achchuthan Shanmugasundram Publications for gene: SPG11 were updated from 17717710; 19194956; 17322883; 18067136 to 19194956; 17322883; 18067136; 17717710
DDG2P v3.11 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPEN were set to 33596411; 33057194
Phenotypes for gene: SPEN were set to SPEN-related developmental disorder (monoallelic)
DDG2P v3.11 SPECC1L Achchuthan Shanmugasundram Source Expert Review Green was added to SPECC1L.
Mode of pathogenicity for gene SPECC1L was changed from Other - please provide details in the comments to Other
Publications for gene: SPECC1L were updated from 2541274; 21703590 to 21703590; 2541274
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SPATA5L1 Achchuthan Shanmugasundram gene: SPATA5L1 was added
gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability
DDG2P v3.11 SPAST Achchuthan Shanmugasundram gene: SPAST was added
gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: SPAST was set to Other
DDG2P v3.11 SPARC Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC.
Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX9 Achchuthan Shanmugasundram Publications for gene: SOX9 were updated from 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698 to 11323423; 11754051; 10951468; 12783851; 8894698; 7990924; 7485151; 8001137; 19449405; 11076045
DDG2P v3.11 SOX6 Achchuthan Shanmugasundram gene: SOX6 was added
gene: SOX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to SOX6-related neurodevelopmental syndrome
DDG2P v3.11 SOX5 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX5.
Publications for gene: SOX5 were updated from 22290657 to 36861937; 22290657
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX4 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX4.
Mode of pathogenicity for gene SOX4 was changed from Other - please provide details in the comments to Other
Publications for gene: SOX4 were updated from 30661772 to 35232796; 30661772
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX2 Achchuthan Shanmugasundram Publications for gene: SOX2 were updated from 12612584; 21326281; 15346919; 21919124; 16145681; 15389708; 18831064; 19254784; 15812812; 16470798; 12002146; 16543359; 16932809; 16283891 to 15389708; 16145681; 21326281; 18831064; 16283891; 12002146; 12612584; 15346919; 17219395; 15812812; 16932809; 16543359; 21919124; 19254784; 16470798
DDG2P v3.11 SOX17 Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Publications for gene: SOX11 were updated from 24886874; 26543203 to 35341651; 26543203; 24886874
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX10 Achchuthan Shanmugasundram Publications for gene: SOX10 were updated from 18348274; 9462749; 10077527; 17999358 to 18627047; 8911608; 21965087; 20478267; 11026454; 10482261; 18348274; 23643381; 12447940; 9462749; 18348267; 19764030; 17999358; 10077527; 19208381; 10762540
DDG2P v3.11 SOS2 Achchuthan Shanmugasundram gene: SOS2 was added
gene: SOS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793; 32788663
Phenotypes for gene: SOS2 were set to SOS-2 associated Noonan syndrome, OMIM:616559
Mode of pathogenicity for gene: SOS2 was set to Other
DDG2P v3.11 SOS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SOS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SON Achchuthan Shanmugasundram Publications for gene: SON were updated from 27545680; 27545676 to 27545676; 27545680
DDG2P v3.11 SNRPE Achchuthan Shanmugasundram Source Expert Review Green was added to SNRPE.
Mode of pathogenicity for gene SNRPE was changed from Other - please provide details in the comments to Other
Publications for gene: SNRPE were updated from 23246290; 9621144 to 36814386; 23246290; 9621144
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SNIP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SNIP1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SNAP29 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP29.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SNAP25 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25.
Publications for gene: SNAP25 were updated from 29100083 to 33299146; 29100083
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMS Achchuthan Shanmugasundram Source Expert Review Green was added to SMS.
Publications for gene: SMS were updated from 19206178; 18550699; 5823961 to 19206178; 5823961; 18550699
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to SMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMPD1 Achchuthan Shanmugasundram Publications for gene: SMPD1 were updated from 12607113; 1301192; 9266408; 1885770; 12369017 to 19405096; 2023926; 8401540; 12607113; 9266408; 12369017; 1301192; 1718266; 1885770; 8051942; 1391960
DDG2P v3.11 SMOC2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMO Achchuthan Shanmugasundram Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SMO were updated from to 32413283
DDG2P v3.11 SMG9 Achchuthan Shanmugasundram Source Expert Review Green was added to SMG9.
Publications for gene: SMG9 were updated from 27018474 to 27018474; 35087184
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMG8 Achchuthan Shanmugasundram gene: SMG8 was added
gene: SMG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 33242396
Phenotypes for gene: SMG8 were set to SMG8-related Developmental Disorder
DDG2P v3.11 SMCHD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMCHD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SMC5 Achchuthan Shanmugasundram gene: SMC5 was added
gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder
Mode of pathogenicity for gene: SMC5 was set to Other
DDG2P v3.11 SMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMC3 was changed from Other - please provide details in the comments to Other
Publications for gene: SMC3 were updated from 25125236; 25655089 to 17273969; 25125236; 25655089; 20358602
DDG2P v3.11 SMC1A Achchuthan Shanmugasundram Publications for gene: SMC1A were updated from 20635401; 17273969; 22106055; 16604071 to 17273969; 28548707; 24124034; 28102598; 31185419; 22106055; 26358754; 20635401; 28677859; 26354354; 16604071; 31098032; 28166369; 26386245; 26752331
DDG2P v3.11 SMARCE1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1.
Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCC2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCB1 Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796
DDG2P v3.11 SMARCA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other
Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308
DDG2P v3.11 SMAD3 Achchuthan Shanmugasundram Publications for gene: SMAD3 were updated from to 21217753; 29392890
DDG2P v3.11 SMAD2 Achchuthan Shanmugasundram Publications for gene: SMAD2 were updated from 23665959 to 30157302; 23665959
DDG2P v3.11 SLX4 Achchuthan Shanmugasundram Publications for gene: SLX4 were updated from 21240277; 21240275 to 21240275; 21240277
DDG2P v3.11 SLIRP Achchuthan Shanmugasundram gene: SLIRP was added
gene: SLIRP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to SLIRP-related mitochondrial encephalomyopathy
DDG2P v3.11 SLF2 Achchuthan Shanmugasundram gene: SLF2 was added
gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder
Mode of pathogenicity for gene: SLF2 was set to Other
DDG2P v3.11 SLC9A7 Achchuthan Shanmugasundram gene: SLC9A7 was added
gene: SLC9A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM:301024
Mode of pathogenicity for gene: SLC9A7 was set to Other
DDG2P v3.11 SLC6A9 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC6A8 Achchuthan Shanmugasundram Publications for gene: SLC6A8 were updated from 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 to 16086185; 11326334; 16738945; 12210795; 17101918; 11898126; 15154114
DDG2P v3.11 SLC6A17 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A17.
Mode of pathogenicity for gene SLC6A17 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC6A1 Achchuthan Shanmugasundram Publications for gene: SLC6A1 were updated from 25865495 to 31176687; 34006619; 25865495; 29961511; 29315614; 27600546; 30132828; 31516630
DDG2P v3.11 SLC5A7 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC5A7.
Mode of pathogenicity for gene SLC5A7 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC5A6 Achchuthan Shanmugasundram gene: SLC5A6 was added
gene: SLC5A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 27904971; 31754459; 35013551
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
DDG2P v3.11 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were updated from 9388506; 9745458; 3998954; 9486973; 3451231; 9171822 to 9486973; 9388506; 9171822; 3998954; 3451231; 9745458
DDG2P v3.11 SLC52A3 Achchuthan Shanmugasundram Publications for gene: SLC52A3 were updated from 20206331; 20920669; 16122634; 21110228 to 21110228; 16122634; 20920669; 20206331
DDG2P v3.11 SLC4A4 Achchuthan Shanmugasundram Publications for gene: SLC4A4 were updated from 10545938; 11274232 to 10545938; 11274232
DDG2P v3.11 SLC4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC46A1 Achchuthan Shanmugasundram Publications for gene: SLC46A1 were updated from 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 to 11804211; 17446347; 21333572; 20795774; 18559978; 11807405
DDG2P v3.11 SLC45A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC45A1.
Mode of pathogenicity for gene SLC45A1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC39A8 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC39A8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC38A3 Achchuthan Shanmugasundram gene: SLC38A3 was added
gene: SLC38A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A3 were set to 34605855; 36539921
Phenotypes for gene: SLC38A3 were set to SLC38A3-associated epileptic encephalopathy.
DDG2P v3.11 SLC37A4 Achchuthan Shanmugasundram gene: SLC37A4 was added
gene: SLC37A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC37A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 9758626; 21629566; 28224773; 9428641; 24385852; 31617422; 31508908; 33728255; 32005221; 19579760; 25804016; 33964207
Phenotypes for gene: SLC37A4 were set to SLC37A4-related congenital disorder of glycosylation with liver dysfunction; Glycogen storage disease Ib, OMIM:232220
DDG2P v3.11 SLC35D1 Achchuthan Shanmugasundram Publications for gene: SLC35D1 were updated from 11200994; 19508970; 17952091 to 35934917; 11200994; 19508970; 17952091
DDG2P v3.11 SLC35B2 Achchuthan Shanmugasundram gene: SLC35B2 was added
gene: SLC35B2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to 35325049
Phenotypes for gene: SLC35B2 were set to SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy
Mode of pathogenicity for gene: SLC35B2 was set to Other
DDG2P v3.11 SLC35A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC32A1 Achchuthan Shanmugasundram gene: SLC32A1 was added
gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC32A1 were set to 34038384; 36073542
Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy
Mode of pathogenicity for gene: SLC32A1 was set to Other
DDG2P v3.11 SLC31A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC31A1.
Mode of pathogenicity for gene SLC31A1 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC31A1 were updated from 21937992 to 21937992; 35913762; 36562171
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SLC30A7 Achchuthan Shanmugasundram gene: SLC30A7 was added
gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC30A7 were set to 35751429
Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome
Mode of pathogenicity for gene: SLC30A7 was set to Other
DDG2P v3.11 SLC2A2 Achchuthan Shanmugasundram Publications for gene: SLC2A2 were updated from 9354798 to 9354798; 11044475
DDG2P v3.11 SLC2A10 Achchuthan Shanmugasundram Publications for gene: SLC2A10 were updated from 16550171; 17935213; 14569121 to 14569121; 17935213; 16550171
DDG2P v3.11 SLC2A1 Achchuthan Shanmugasundram Publications for gene: SLC2A1 were updated from 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 to 10980529; 1714544; 19630075; 14605501; 11136715; 19901175; 11603379; 9462754; 18403583; 18606970; 18577546; 18451999; 20221955
DDG2P v3.11 SLC26A2 Achchuthan Shanmugasundram Publications for gene: SLC26A2 were updated from 7923357; 10482955; 10466420; 8571951; 18925670 to 18925670; 10482955; 8571951; 7923357; 4644462; 12966518; 10466420; 8528239
DDG2P v3.11 SLC25A42 Achchuthan Shanmugasundram gene: SLC25A42 was added
gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
DDG2P v3.11 SLC25A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4.
Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A24 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC25A24 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC25A22 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A22.
Mode of pathogenicity for gene SLC25A22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A20 Achchuthan Shanmugasundram Publications for gene: SLC25A20 were updated from 9399886; 12859414; 10384384; 10697964; 9686371 to 9399886; 10697964; 9686371; 12859414; 10384384
DDG2P v3.11 SLC25A19 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19.
Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A15 Achchuthan Shanmugasundram Publications for gene: SLC25A15 were updated from 10369256; 16940241; 11355015; 19242930; 11552031 to 11355015; 19242930; 10369256; 16940241; 11552031
DDG2P v3.11 SLC25A1 Achchuthan Shanmugasundram gene: SLC25A1 was added
gene: SLC25A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 29226520; 27306203; 23561848
Phenotypes for gene: SLC25A1 were set to SLC25A1-related Neurometabolic Disorder
DDG2P v3.11 SLC24A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC24A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC22A5 Achchuthan Shanmugasundram Publications for gene: SLC22A5 were updated from 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805; 10545605; 11261427 to 9916797; 2235122; 10480371; 10545605; 15714519; 9634512; 3974805; 10425211; 10051646; 20027113; 9700603; 11058897; 11261427
DDG2P v3.11 SLC1A4 Achchuthan Shanmugasundram gene: SLC1A4 was added
gene: SLC1A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 27193218; 26041762; 31763347; 34174466
Phenotypes for gene: SLC1A4 were set to SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
DDG2P v3.11 SLC1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC1A2.
Mode of pathogenicity for gene SLC1A2 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC1A2 were updated from 28777935; 27476654 to 27476654; 28777935
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC19A3 Achchuthan Shanmugasundram Publications for gene: SLC19A3 were updated from 19387023; 15871139; 20065143 to 15871139; 19387023; 20065143
DDG2P v3.11 SLC17A5 Achchuthan Shanmugasundram Publications for gene: SLC17A5 were updated from 10069709; 10581036 to 10069709; 10947946; 10581036
DDG2P v3.11 SLC16A2 Achchuthan Shanmugasundram Publications for gene: SLC16A2 were updated from 15488219; 1605231; 8484404; 14661163; 15889350 to 8484404; 15488219; 1605231; 14661163; 15889350
DDG2P v3.11 SLC13A1 Achchuthan Shanmugasundram gene: SLC13A1 was added
gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia
DDG2P v3.11 SLC12A6 Achchuthan Shanmugasundram Publications for gene: SLC12A6 were updated from 12368912; 31439721; 27485015; 16606917; 17893295; 21628467 to 21628467; 12368912; 27485015; 16606917; 17893295; 31439721
DDG2P v3.11 SLC12A5 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC12A5.
Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene SLC12A5 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC12A5 were updated from 24668262 to 24668262; 28477354; 26333769; 27436767
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SKI Achchuthan Shanmugasundram Mode of pathogenicity for gene SKI was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX3 Achchuthan Shanmugasundram Publications for gene: SIX3 were updated from 19346217; 10369266; 17001667; 19353631; 11039582 to 19353631; 10369266; 19346217; 11039582; 17001667
DDG2P v3.11 SIX1 Achchuthan Shanmugasundram Publications for gene: SIX1 were updated from 10777717 to 15141091; 12843324; 10777717; 17637804
DDG2P v3.11 SIN3B Achchuthan Shanmugasundram gene: SIN3B was added
gene: SIN3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to 33811806
Phenotypes for gene: SIN3B were set to SIN3B-related syndromic intellectual disability and autism spectrum disorder
DDG2P v3.11 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SIM1 Achchuthan Shanmugasundram Publications for gene: SIM1 were updated from 28472148; 23778136; 23778139 to 28472148; 23778139; 23778136
DDG2P v3.11 SIL1 Achchuthan Shanmugasundram Publications for gene: SIL1 were updated from 16282978; 18285827; 17026626; 20111056; 16282977 to 17026626; 18285827; 20111056; 16282978; 16282977
DDG2P v3.11 SIK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIK1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIAH1 Achchuthan Shanmugasundram gene: SIAH1 was added
gene: SIAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to SIAH1-associated neurodevelopmental disorder
Mode of pathogenicity for gene: SIAH1 was set to Other
DDG2P v3.11 SHROOM3 Achchuthan Shanmugasundram Source Expert Review Green was added to SHROOM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHOX Achchuthan Shanmugasundram Publications for gene: SHOX were updated from 9590293; 15356038; 11403039; 11030412; 21712857 to 9590292; 11403039; 12116254; 17935511; 9590293; 11889214; 15356038; 21712857; 11030412
DDG2P v3.11 SHOC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome
Mode of pathogenicity for gene: SHMT2 was set to Other
DDG2P v3.11 SHH Achchuthan Shanmugasundram Publications for gene: SHH were updated from 11471164; 15103725; 12567406 to 12503095; 11471164; 15103725; 12567406
DDG2P v3.11 SHANK3 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK3.
Publications for gene: SHANK3 were updated from 22892527; 17173049 to 17173049; 22892527
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHANK2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHANK1 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SH3PXD2B Achchuthan Shanmugasundram Publications for gene: SH3PXD2B were updated from 20137777; 15523657; 7158646 to 20137777; 7158646; 15523657
DDG2P v3.11 SH3BP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SH3BP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SETD5 Achchuthan Shanmugasundram Publications for gene: SETD5 were updated from 24680889 to 31656537; 27375234; 28881385; 24680889; 28905509; 25138099; 28549204
DDG2P v3.11 SETD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SETD2.
Publications for gene: SETD2 were updated from 24852293; 27317772 to 34978780; 27317772; 32710489; 24852293
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SETD1B Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1B.
Publications for gene: SETD1B were updated from 29322246 to 32546566; 29322246
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SETD1A Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SET Achchuthan Shanmugasundram Source Expert Review Green was added to SET.
Publications for gene: SET were updated from 28135719 to 35122673; 29688601; 28135719; 29907757
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SERAC1 Achchuthan Shanmugasundram gene: SERAC1 was added
gene: SERAC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 32346411; 27186703; 28505671; 27331002; 28778788; 28916646; 34326751; 23707711; 29205472; 31251474; 33613893
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
DDG2P v3.11 SEPSECS Achchuthan Shanmugasundram Publications for gene: SEPSECS were updated from 29464431; 26805434; 26888482 to 26805434; 29464431; 26888482
DDG2P v3.11 SEMA6B Achchuthan Shanmugasundram gene: SEMA6B was added
gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044
Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder
Mode of pathogenicity for gene: SEMA6B was set to Other
DDG2P v3.11 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 24124006; 33369061; 28075028
Phenotypes for gene: SEMA3A were set to SEMA3A-related skeletal dysplasia
DDG2P v3.11 SELENON Achchuthan Shanmugasundram gene: SELENON was added
gene: SELENON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENON were set to 26841830; 15792869; 12192640; 28558865; 30642275; 23394784; 20937510; 32154989; 26780752; 29850975; 11528383; 15668457; 16498447; 28688748; 29172004; 31066047; 21670436; 28606403; 15961312; 25808192; 17951086
Phenotypes for gene: SELENON were set to SELENON-related myopathy
DDG2P v3.11 SELENOI Achchuthan Shanmugasundram Source Expert Review Green was added to SELENOI.
Mode of inheritance for gene SELENOI was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were updated from 28052917; 29500230 to 29500230; 28052917
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SECISBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to SECISBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SEC61A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SEC24D Achchuthan Shanmugasundram Source Expert Review Green was added to SEC24D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SEC23B Achchuthan Shanmugasundram Publications for gene: SEC23B were updated from 19561605; 19621418 to 19621418; 19561605
DDG2P v3.11 SEC23A Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC23A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDHAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHAF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDHA Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHA was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDCCAG8 Achchuthan Shanmugasundram Publications for gene: SDCCAG8 were updated from 20835237 to 20835237; 22626039
DDG2P v3.11 SCYL1 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SCUBE3 Achchuthan Shanmugasundram gene: SCUBE3 was added
gene: SCUBE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to SCUBE3-related developmental disorder
DDG2P v3.11 SCO2 Achchuthan Shanmugasundram Publications for gene: SCO2 were updated from 10545952; 10749987; 18924171; 14994243 to 10749987; 14994243; 10545952; 18924171
DDG2P v3.11 SCNM1 Achchuthan Shanmugasundram gene: SCNM1 was added
gene: SCNM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to 36084634
Phenotypes for gene: SCNM1 were set to SCNM1-associated orofaciodigital syndrome
DDG2P v3.11 SCN8A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN8A was changed from to Other
Publications for gene: SCN8A were updated from 22365152 to 22365152; 16236810
DDG2P v3.11 SCN4A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other
Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223
DDG2P v3.11 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Mode of pathogenicity for gene SCN3A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SCN2A Achchuthan Shanmugasundram Publications for gene: SCN2A were updated from 26291284; 23935176 to 25457084; 26291284; 31966371; 24579881; 31439038; 31204721; 28489313; 28379373; 19783390; 30062040; 16417554; 24814476; 28254201; 15028761; 26311622; 17386050; 23550958; 22591750; 19786696; 23988467; 24710820; 24659627; 30144217; 30203812; 25459969; 29635106; 23935176; 28709814; 23827426; 27781028; 25772804; 29625812
DDG2P v3.11 SCN1B Achchuthan Shanmugasundram Publications for gene: SCN1B were updated from 18464934 to 17020904; 9697698; 12011299; 18464934
DDG2P v3.11 SCN1A Achchuthan Shanmugasundram Publications for gene: SCN1A were updated from 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645 to 16505326; 18680191; 12566275; 11359211; 21555645; 21753172; 17000989
DDG2P v3.11 SCN11A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN11A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder
DDG2P v3.11 SC5D Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other
Publications for gene: SC5D were updated from to 12189593; 12812989
DDG2P v3.11 SATB2 Achchuthan Shanmugasundram Publications for gene: SATB2 were updated from 28139846; 28151491 to 30848049; 31392730; 31021519; 30575289; 17377962; 31333717; 28151491; 29739092; 35838081; 29436146; 28211976; 28139846; 26596517; 28787087; 31420882; 24363063; 30648748; 25885067; 24301056; 27774744
DDG2P v3.11 SATB1 Achchuthan Shanmugasundram gene: SATB1 was added
gene: SATB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to 33057194
Phenotypes for gene: SATB1 were set to SATB1-related developmental disorder (monoallelic)
DDG2P v3.11 SARS2 Achchuthan Shanmugasundram gene: SARS2 was added
gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 21255763; 33751860; 24034276
Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845
Mode of pathogenicity for gene: SARS2 was set to Other
DDG2P v3.11 SARS Achchuthan Shanmugasundram gene: SARS was added
gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to 28236339; 34570399; 36041817
Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder
Mode of pathogenicity for gene: SARS was set to Other
DDG2P v3.11 SAMD9L Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9L was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SAMD9 Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9 was changed from to Other
DDG2P v3.11 SALL4 Achchuthan Shanmugasundram Publications for gene: SALL4 were updated from to 17256792; 12395297; 26791099; 12393809
DDG2P v3.11 SALL1 Achchuthan Shanmugasundram Publications for gene: SALL1 were updated from 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063 to 18000979; 10533063; 9973281; 14755477; 17431915; 11484202; 10928856; 9425907
DDG2P v3.11 SACS Achchuthan Shanmugasundram Source Expert Review Green was added to SACS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RYR2 Achchuthan Shanmugasundram gene: RYR2 was added
gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 30170228
Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
Mode of pathogenicity for gene: RYR2 was set to Other
DDG2P v3.11 RUNX2 Achchuthan Shanmugasundram Publications for gene: RUNX2 were updated from 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612 to 9207800; 12081718; 12424590; 9182765; 10545612; 15952089; 10521292
DDG2P v3.11 RUBCN Achchuthan Shanmugasundram Mode of pathogenicity for gene RUBCN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RTTN Achchuthan Shanmugasundram Mode of pathogenicity for gene RTTN was changed from Other - please provide details in the comments to Other
Publications for gene: RTTN were updated from 22939636; 29883675; 26608784 to 26608784; 22939636; 29883675
DDG2P v3.11 RSRC1 Achchuthan Shanmugasundram gene: RSRC1 was added
gene: RSRC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 29522154; 32227164; 28640246
Phenotypes for gene: RSRC1 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
DDG2P v3.11 RSPRY1 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RSPO4 Achchuthan Shanmugasundram Publications for gene: RSPO4 were updated from 4702713; 17041604; 17186469; 18070203; 17914448 to 17186469; 18070203; 17041604; 17914448; 4702713
DDG2P v3.11 RSPO2 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RRM2B Achchuthan Shanmugasundram Publications for gene: RRM2B were updated from 17486094; 19616983; 23968935; 23107649; 28482374 to 23107649; 19616983; 28482374; 23968935; 17486094
DDG2P v3.11 RRM1 Achchuthan Shanmugasundram gene: RRM1 was added
gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM1 were set to 35617047
Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome
Mode of pathogenicity for gene: RRM1 was set to Other
DDG2P v3.11 RRAS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene RRAS2 was changed from Other - please provide details in the comments to Other
Publications for gene: RRAS2 were updated from 31130282; 31130285; 24705357 to 31130282; 31130285; 24705357
DDG2P v3.11 RRAS Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS.
Mode of pathogenicity for gene RRAS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RPS6KA3 Achchuthan Shanmugasundram Publications for gene: RPS6KA3 were updated from 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 to 17717706; 10094187; 12439904; 8955270; 9887375; 9837815; 12558110; 10528858; 15214012; 14986828; 11992250
DDG2P v3.11 RPS26 Achchuthan Shanmugasundram gene: RPS26 was added
gene: RPS26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS26 were set to 24942156; 24675553; 25946618; 31277601; 20116044
Phenotypes for gene: RPS26 were set to DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309
DDG2P v3.11 RPS23 Achchuthan Shanmugasundram Source Expert Review Green was added to RPS23.
Mode of pathogenicity for gene RPS23 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RPL26 Achchuthan Shanmugasundram gene: RPL26 was added
gene: RPL26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900
DDG2P v3.11 RPL13 Achchuthan Shanmugasundram gene: RPL13 was added
gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Mode of pathogenicity for gene: RPL13 was set to Other
DDG2P v3.11 RPL11 Achchuthan Shanmugasundram Publications for gene: RPL11 were updated from 19191325; 19061985; 19773262 to 19191325; 19061985; 19773262
DDG2P v3.11 RPL10 Achchuthan Shanmugasundram gene: RPL10 was added
gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468
Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998
Mode of pathogenicity for gene: RPL10 was set to Other
DDG2P v3.11 RPGRIP1L Achchuthan Shanmugasundram Publications for gene: RPGRIP1L were updated from 18565097; 17558409; 17558407 to 17558409; 17558407; 18565097; 19574260
DDG2P v3.11 RPGRIP1 Achchuthan Shanmugasundram Publications for gene: RPGRIP1 were updated from 12920076 to 12920076; 11283794; 11528500
DDG2P v3.11 RORB Achchuthan Shanmugasundram gene: RORB was added
gene: RORB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RORB were set to 27352968; 32162308; 33387058
Phenotypes for gene: RORB were set to RORB-epilepsy and neurodevelopmental disorder, OMIM:618357; epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699
DDG2P v3.11 RORA Achchuthan Shanmugasundram Source Expert Review Green was added to RORA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ROR2 Achchuthan Shanmugasundram Publications for gene: ROR2 were updated from 10986040; 19533773; 10700182; 19461659 to 35344616; 15952209; 10932186; 10932187; 10986040; 19640924; 18831060; 10700182; 19461659; 19533773
DDG2P v3.11 ROGDI Achchuthan Shanmugasundram Publications for gene: ROGDI were updated from 16411202; 8133980; 3236364; 22424600; 22482807; 7625549 to 3236364; 7625549; 16411202; 22482807; 8133980; 22424600
DDG2P v3.11 ROBO4 Achchuthan Shanmugasundram Source Expert Review Green was added to ROBO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RNU4ATAC Achchuthan Shanmugasundram Mode of pathogenicity for gene RNU4ATAC was changed from Other - please provide details in the comments to Other
Publications for gene: RNU4ATAC were updated from 17666473; 21474761; 22581640; 21474760 to 22581640; 21474761; 21474760; 17666473
DDG2P v3.11 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 27863452; 34085356
Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome
Mode of pathogenicity for gene: RNU12 was set to Other
DDG2P v3.11 RNPC3 Achchuthan Shanmugasundram gene: RNPC3 was added
gene: RNPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 35792517; 29866761; 32462814; 24480542; 33650182
Phenotypes for gene: RNPC3 were set to RNPC3-associated growth hormone deficiency and short stature, OMIM:618160
DDG2P v3.11 RNF13 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF13.
Mode of pathogenicity for gene RNF13 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF125 were set to 34196401; 25196541
Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260
Mode of pathogenicity for gene: RNF125 was set to Other
DDG2P v3.11 RMND1 Achchuthan Shanmugasundram Source Expert Review Green was added to RMND1.
Mode of pathogenicity for gene RMND1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Mode of pathogenicity for gene RLIM was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene RIT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RINT1 Achchuthan Shanmugasundram Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIN2 Achchuthan Shanmugasundram Source Expert Review Green was added to RIN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIMS2 Achchuthan Shanmugasundram gene: RIMS2 was added
gene: RIMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease
DDG2P v3.11 RHOBTB2 Achchuthan Shanmugasundram Source Expert Review Green was added to RHOBTB2.
Mode of pathogenicity for gene RHOBTB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RFX6 Achchuthan Shanmugasundram Publications for gene: RFX6 were updated from 18512226; 20148032; 19887127; 15592663 to 15592663; 19887127; 18512226; 20148032
DDG2P v3.11 RFT1 Achchuthan Shanmugasundram Source Expert Review Green was added to RFT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RET Achchuthan Shanmugasundram Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene RET was changed from to Other
Publications for gene: RET were updated from to 11788682
DDG2P v3.11 REST Achchuthan Shanmugasundram gene: REST was added
gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REST were set to 36509837
Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss
Mode of pathogenicity for gene: REST was set to Other
DDG2P v3.11 RECQL4 Achchuthan Shanmugasundram Publications for gene: RECQL4 were updated from 11754069; 15964893; 9934984 to 11754069; 12952869; 12734318; 15964893; 10319867; 20503338; 12838562; 9878247; 10678659; 9934984
DDG2P v3.11 RBPJ Achchuthan Shanmugasundram Source Expert Review Green was added to RBPJ.
Mode of pathogenicity for gene RBPJ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RBM28 Achchuthan Shanmugasundram Mode of pathogenicity for gene RBM28 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RBM10 Achchuthan Shanmugasundram Source Expert Review Green was added to RBM10.
Publications for gene: RBM10 were updated from 20451169; 5410571 to 20451169; 5410571; 30189253; 30450804; 35645043
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RBFOX1 Achchuthan Shanmugasundram gene: RBFOX1 was added
gene: RBFOX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBFOX1 were set to 26185613; 26749308
Phenotypes for gene: RBFOX1 were set to RBFOX1-related neurodevelopmental disorder
DDG2P v3.11 RBBP8 Achchuthan Shanmugasundram gene: RBBP8 was added
gene: RBBP8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 26333564; 34270086; 21998596
Phenotypes for gene: RBBP8 were set to RBBP8-related microcephaly and intellectual disability, OMIM:251255
DDG2P v3.11 RAX Achchuthan Shanmugasundram Publications for gene: RAX were updated from 14662654; 18783408 to 18783408; 14662654
DDG2P v3.11 RASA1 Achchuthan Shanmugasundram Source Expert Review Red was added to RASA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 RARS2 Achchuthan Shanmugasundram Publications for gene: RARS2 were updated from to 34085948
DDG2P v3.11 RARS Achchuthan Shanmugasundram gene: RARS was added
gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 28905880; 31814314
Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy
DDG2P v3.11 RARB Achchuthan Shanmugasundram Publications for gene: RARB were updated from 24075189 to 27120018; 24075189
DDG2P v3.11 RAPSN Achchuthan Shanmugasundram Publications for gene: RAPSN were updated from 18179903 to 11791205; 18179903
DDG2P v3.11 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 32627184; 26280580
Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder
Mode of pathogenicity for gene: RAP1B was set to Other
DDG2P v3.11 RANBP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene RANBP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RALGDS Achchuthan Shanmugasundram Mode of pathogenicity for gene RALGDS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RALGAPA1 Achchuthan Shanmugasundram gene: RALGAPA1 was added
gene: RALGAPA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to RALGAPA1-related neurodevelopmental disorder
DDG2P v3.11 RALA Achchuthan Shanmugasundram gene: RALA was added
gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome
Mode of pathogenicity for gene: RALA was set to Other
DDG2P v3.11 RAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene RAF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RAD51C Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51C.
Mode of pathogenicity for gene RAD51C was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAD21 Achchuthan Shanmugasundram Publications for gene: RAD21 were updated from 22633399 to 27882533; 30716475; 22633399; 32193685; 24378232; 30125677
DDG2P v3.11 RAC3 Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3.
Mode of pathogenicity for gene RAC3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAC1 Achchuthan Shanmugasundram Source Expert Review Green was added to RAC1.
Mode of pathogenicity for gene RAC1 was changed from Other - please provide details in the comments to Other
Publications for gene: RAC1 were updated from 28886345 to 35139179; 28886345
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RABL6 Achchuthan Shanmugasundram Mode of pathogenicity for gene RABL6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RAB3GAP2 Achchuthan Shanmugasundram Publications for gene: RAB3GAP2 were updated from 16532399 to 16532399; 29419336
DDG2P v3.11 RAB3GAP1 Achchuthan Shanmugasundram Publications for gene: RAB3GAP1 were updated from 29675078; 15216543; 15696165; 10465117; 20512159 to 15216543; 29675078; 10465117; 20512159; 15696165
DDG2P v3.11 RAB39B Achchuthan Shanmugasundram Publications for gene: RAB39B were updated from 11050621; 20159109; 25434005 to 20159109; 25434005; 11050621
DDG2P v3.11 RAB14 Achchuthan Shanmugasundram gene: RAB14 was added
gene: RAB14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB14 were set to 33057194
Phenotypes for gene: RAB14 were set to RAB14-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: RAB14 was set to Other
DDG2P v3.11 RAB11B Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11B.
Mode of pathogenicity for gene RAB11B was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAB11A Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11A.
Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 QDPR Achchuthan Shanmugasundram Publications for gene: QDPR were updated from 9341885; 9744478; 2116088; 8326489; 11153907 to 8326489; 2116088; 11153907; 9744478; 9341885
DDG2P v3.11 QARS Achchuthan Shanmugasundram Source Expert Review Green was added to QARS.
Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYROXD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PYROXD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYCR2 Achchuthan Shanmugasundram Source Expert Review Green was added to PYCR2.
Mode of pathogenicity for gene PYCR2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYCR1 Achchuthan Shanmugasundram Publications for gene: PYCR1 were updated from 18304158; 18348262; 16045708; 19576563; 19648921; 11424136 to 19648921; 18304158; 11424136; 19576563; 18348262; 16045708
DDG2P v3.11 PXDN Achchuthan Shanmugasundram Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PUS7 Achchuthan Shanmugasundram Source Expert Review Green was added to PUS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PUS3 Achchuthan Shanmugasundram gene: PUS3 was added
gene: PUS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30697592; 32056211; 34415064; 31444731; 30308082; 27055666
Phenotypes for gene: PUS3 were set to PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae
DDG2P v3.11 PUS1 Achchuthan Shanmugasundram gene: PUS1 was added
gene: PUS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 32287105; 30588737; 17056637; 26556812; 25227147
Phenotypes for gene: PUS1 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462
DDG2P v3.11 PURA Achchuthan Shanmugasundram Publications for gene: PURA were updated from 25342064 to 31911028; 29150892; 25342064; 29097605; 32089526; 29307761; 27148565; 25439098
DDG2P v3.11 PUF60 Achchuthan Shanmugasundram Publications for gene: PUF60 were updated from 24140112; 27804958 to 24140112; 28327570; 27804958
DDG2P v3.11 PTRH2 Achchuthan Shanmugasundram gene: PTRH2 was added
gene: PTRH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 31057140; 27129381; 25574476; 25558065; 28328138
Phenotypes for gene: PTRH2 were set to NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263
DDG2P v3.11 PTPN14 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PTPN11 Achchuthan Shanmugasundram Mode of pathogenicity for gene PTPN11 was changed from Other - please provide details in the comments to Other
Publications for gene: PTPN11 were updated from 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 to 19659470; 15520399; 21910226; 15384080; 24820750; 16733669; 12325025; 19864201; 22822385; 19768645; 19054014; 11992261; 23799168; 15240615; 27484170; 11704759; 24790373; 26377839; 25884655; 25917897; 17875892; 12529711; 12161469; 21365175; 19449407; 21747628; 21677813; 17927788
DDG2P v3.11 PTH1R Achchuthan Shanmugasundram Publications for gene: PTH1R were updated from 10523019; 17164305; 3975110; 9649554; 9745456 to 9745456; 8703170; 15240651; 17164305; 3975110; 7701349; 10487664; 15525660; 10523019; 19061984; 9649554
DDG2P v3.11 PTH Achchuthan Shanmugasundram Source Expert Review Green was added to PTH.
Publications for gene: PTH were updated from 2212001; 1302009; 10523031; 3005800 to 3005800; 1302009; 10523031; 2212001
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PTF1A Achchuthan Shanmugasundram Publications for gene: PTF1A were updated from 24212882 to 15543146; 21749365; 10507728; 24212882
DDG2P v3.11 PTEN Achchuthan Shanmugasundram Publications for gene: PTEN were updated from 23160955; 15805158; 17286265 to 9241266; 9467011; 9259288; 17286265; 11476841; 9425889; 9140396; 9832031; 10051160; 16704655; 12844284; 15805158; 12471211; 10353779; 10777358; 23160955; 11238682; 9832032
DDG2P v3.11 PTDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PTDSS1 was changed from Other - please provide details in the comments to Other
Publications for gene: PTDSS1 were updated from 24241535 to 35224839; 24241535
DDG2P v3.11 PTCH1 Achchuthan Shanmugasundram Publications for gene: PTCH1 were updated from 12900905; 8681379; 22572734; 8658145 to 8658145; 11941477; 8681379; 17001668; 22572734; 12900905
DDG2P v3.11 PSPH Achchuthan Shanmugasundram Publications for gene: PSPH were updated from 25152457 to 25152457; 14673469; 9222972
DDG2P v3.11 PSMC5 Achchuthan Shanmugasundram gene: PSMC5 was added
gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC5 were set to 33057194
Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: PSMC5 was set to Other
DDG2P v3.11 PSMC1 Achchuthan Shanmugasundram gene: PSMC1 was added
gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC1 were set to 35861243
Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder
Mode of pathogenicity for gene: PSMC1 was set to Other
DDG2P v3.11 PSMB8 Achchuthan Shanmugasundram Mode of pathogenicity for gene PSMB8 was changed from Other - please provide details in the comments to Other
Publications for gene: PSMB8 were updated from 21852578; 21881205; 21129723; 21953331 to 21881205; 21953331; 21852578; 21129723
DDG2P v3.11 PSAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRUNE1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRUNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRSS56 Achchuthan Shanmugasundram Publications for gene: PRSS56 were updated from 19526372; 21397065 to 21397065; 19526372
DDG2P v3.11 PRRX1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other
Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708
DDG2P v3.11 PRRT2 Achchuthan Shanmugasundram Publications for gene: PRRT2 were updated from 22543779; 22243967; 22744660 to 22543779; 21937992; 22243967; 22744660
DDG2P v3.11 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Mode of inheritance for gene PRR12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRPS1 Achchuthan Shanmugasundram Publications for gene: PRPS1 were updated from 22246954; 17701896; 8498830 to 22246954; 17701896; 8498830; 6243137; 15240907; 7593598; 10503584; 171280; 17701900; 8968763; 2423135; 20021999
DDG2P v3.11 PRPF8 Achchuthan Shanmugasundram gene: PRPF8 was added
gene: PRPF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPF8 were set to 33057194; 35543142; 29847639
Phenotypes for gene: PRPF8 were set to PRPF8-related developmental disorder (monoallelic)
DDG2P v3.11 PROSER1 Achchuthan Shanmugasundram gene: PROSER1 was added
gene: PROSER1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROSER1 were set to 35229282
Phenotypes for gene: PROSER1 were set to PROSER1-related developmental disorder
DDG2P v3.11 PRMT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRMT9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRKG2 Achchuthan Shanmugasundram gene: PRKG2 was added
gene: PRKG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 34782440; 36504352; 33106379
Phenotypes for gene: PRKG2 were set to PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636
DDG2P v3.11 PRKD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRKAR1B Achchuthan Shanmugasundram gene: PRKAR1B was added
gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1B were set to 33057194; 33833410
Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder
Mode of pathogenicity for gene: PRKAR1B was set to Other
DDG2P v3.11 PRKAR1A Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other
Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393
DDG2P v3.11 PRKACB Achchuthan Shanmugasundram gene: PRKACB was added
gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome
Mode of pathogenicity for gene: PRKACB was set to Other
DDG2P v3.11 PRKACA Achchuthan Shanmugasundram gene: PRKACA was added
gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACA were set to 33058759
Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome
Mode of pathogenicity for gene: PRKACA was set to Other
DDG2P v3.11 PRIM1 Achchuthan Shanmugasundram gene: PRIM1 was added
gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism
DDG2P v3.11 PREPL Achchuthan Shanmugasundram Source Expert Review Green was added to PREPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRDX3 Achchuthan Shanmugasundram gene: PRDX3 was added
gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 35766882
Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia
DDG2P v3.11 PRDM6 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRDM6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRDM15 Achchuthan Shanmugasundram gene: PRDM15 was added
gene: PRDM15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 33593823
Phenotypes for gene: PRDM15 were set to PRDM15-related renal and neurodevelopmental disorder
Mode of pathogenicity for gene: PRDM15 was set to Other
DDG2P v3.11 PRDM13 Achchuthan Shanmugasundram gene: PRDM13 was added
gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 35390279
Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome
DDG2P v3.11 PQBP1 Achchuthan Shanmugasundram Publications for gene: PQBP1 were updated from 16740914; 13981686; 3177467; 16493439; 7943045; 14634649 to 13981686; 14634649; 3177467; 7943045; 16493439; 16740914
DDG2P v3.11 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Mode of pathogenicity for gene PPP3CA was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PPP2R5D Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R5D was changed from Other - please provide details in the comments to Other
Publications for gene: PPP2R5D were updated from 25533962 to 25972378; 36216457; 25533962; 26576547
DDG2P v3.11 PPP2R1A Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R1A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PPP1R21 Achchuthan Shanmugasundram gene: PPP1R21 was added
gene: PPP1R21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571; 28940097; 29808498; 32985083
Phenotypes for gene: PPP1R21 were set to PPP1R21-related neurodevelopmental disorder
DDG2P v3.11 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28069640
Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy
DDG2P v3.11 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations
DDG2P v3.11 PPP1CB Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PPM1D Achchuthan Shanmugasundram Publications for gene: PPM1D were updated from 28343630; 28135719 to 28135719; 28343630
DDG2P v3.11 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
DDG2P v3.11 PPFIBP1 Achchuthan Shanmugasundram gene: PPFIBP1 was added
gene: PPFIBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 30214071; 35830857
Phenotypes for gene: PPFIBP1 were set to PPFIBP1-related neurodevelopmental disorder
DDG2P v3.11 PPA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PPA2 was changed from Other - please provide details in the comments to Other
Publications for gene: PPA2 were updated from 27523598; 27523597 to 27523598; 27523597; 34400813
DDG2P v3.11 POU4F1 Achchuthan Shanmugasundram gene: POU4F1 was added
gene: POU4F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POU4F1 were set to 33783914
Phenotypes for gene: POU4F1 were set to POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352
DDG2P v3.11 POU3F3 Achchuthan Shanmugasundram Mode of pathogenicity for gene POU3F3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POU1F1 Achchuthan Shanmugasundram Publications for gene: POU1F1 were updated from 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 to 1509262; 12629113; 15928241; 2634610; 9626142; 1302000; 16968807; 8768831; 11297581; 1472057; 7670563
DDG2P v3.11 POT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene POT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PORCN Achchuthan Shanmugasundram Publications for gene: PORCN were updated from 17546031; 17546030; 18325042 to 18325042; 17546031; 17546030
DDG2P v3.11 POMT2 Achchuthan Shanmugasundram Publications for gene: POMT2 were updated from 19138766; 17878207; 16701995; 15894594 to 19299310; 19138766; 17878207; 16701995; 17634419; 17923109; 15894594
DDG2P v3.11 POMT1 Achchuthan Shanmugasundram Publications for gene: POMT1 were updated from 22549409; 14678799 to 11053679; 19299310; 11320179; 17878207; 15037715; 14678799; 12369018; 31311558; 22549409; 16717220
DDG2P v3.11 POMP Achchuthan Shanmugasundram Mode of pathogenicity for gene POMP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POMK Achchuthan Shanmugasundram gene: POMK was added
gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
DDG2P v3.11 POMGNT1 Achchuthan Shanmugasundram Publications for gene: POMGNT1 were updated from 18195152; 22419172 to 19299310; 12588800; 22419172; 17878207; 15236414; 11709191; 18195152; 19067344
DDG2P v3.11 POLR3GL Achchuthan Shanmugasundram gene: POLR3GL was added
gene: POLR3GL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205
Phenotypes for gene: POLR3GL were set to Endosteal Hyperostosis and Oligodontia
DDG2P v3.11 POLR3B Achchuthan Shanmugasundram Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were updated from 21937992 to 21937992; 33417887
DDG2P v3.11 POLR3A Achchuthan Shanmugasundram Publications for gene: POLR3A were updated from 21855841; 17159124; 22036171; 12605447; 30414627 to 21855841; 12605447; 22036171; 17159124; 30414627
DDG2P v3.11 POLR2A Achchuthan Shanmugasundram Mode of pathogenicity for gene POLR2A was changed from Other - please provide details in the comments to Other
Publications for gene: POLR2A were updated from 31353023 to 33665635; 35461703; 31353023
DDG2P v3.11 POLR1C Achchuthan Shanmugasundram Publications for gene: POLR1C were updated from 21131976 to 21131976; 32042905; 26151409
DDG2P v3.11 POLR1A Achchuthan Shanmugasundram Source Expert Review Green was added to POLR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 POLG Achchuthan Shanmugasundram Mode of pathogenicity for gene POLG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POLE Achchuthan Shanmugasundram gene: POLE was added
gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001
Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency
DDG2P v3.11 POLD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene POLD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POGZ Achchuthan Shanmugasundram Publications for gene: POGZ were updated from 26942287; 25533962 to 25533962; 30879264; 27103995; 25694107; 26739615; 31782611; 26763879; 31136090; 26942287; 32103003; 27148570; 28480548; 31347273
DDG2P v3.11 POC1A Achchuthan Shanmugasundram Publications for gene: POC1A were updated from 22840364; 22440536 to 26336158; 22840363; 22440536; 22840364
DDG2P v3.11 PNPO Achchuthan Shanmugasundram gene: PNPO was added
gene: PNPO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 24266778; 26108646; 24645144; 25762494; 33981986; 24658933; 28818555; 27014579; 26303608; 26535729
Phenotypes for gene: PNPO were set to PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090
DDG2P v3.11 PNPLA6 Achchuthan Shanmugasundram gene: PNPLA6 was added
gene: PNPLA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25574898; 24355708; 25480986
Phenotypes for gene: PNPLA6 were set to PNPLA6-related Disorder
DDG2P v3.11 PNPLA2 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA2.
Publications for gene: PNPLA2 were updated from 17187067; 22832386 to 22832386; 17187067
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PNPLA1 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA1.
Mode of pathogenicity for gene PNPLA1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PNKP Achchuthan Shanmugasundram Publications for gene: PNKP were updated from 25728773 to 20118933; 25728773
DDG2P v3.11 PMS2 Achchuthan Shanmugasundram Publications for gene: PMS2 were updated from to 7661930; 26318770
DDG2P v3.11 PMPCB Achchuthan Shanmugasundram Source Expert Review Green was added to PMPCB.
Mode of pathogenicity for gene PMPCB was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PMM2 Achchuthan Shanmugasundram Publications for gene: PMM2 were updated from 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 to 21937992; 9887379; 10602363; 17307006; 10527672; 9781039; 9497260; 19235233; 9140401; 10801058; 11916319; 10922383
DDG2P v3.11 PLXND1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLXND1.
Mode of inheritance for gene PLXND1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were updated from 24254849 to 35396997; 24254849; 26068067
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 PLXNA1 Achchuthan Shanmugasundram gene: PLXNA1 was added
gene: PLXNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to 34054129
Phenotypes for gene: PLXNA1 were set to PLXNA1-associated neurodevelopmental disorder (biallelic); PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic)
DDG2P v3.11 PLPBP Achchuthan Shanmugasundram Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLP1 Achchuthan Shanmugasundram Publications for gene: PLP1 were updated from 17438221; 9489796; 8320699; 8956049; 14452137 to 9056547; 8723686; 1384324; 8786077; 11071483; 7573159; 14452137; 8659540; 7574457; 8956049; 2773936; 1715570; 1605230; 7683951; 1720927; 8320699; 9489796; 17438221; 8696336; 2480601; 3827224; 1707231
DDG2P v3.11 PLOD2 Achchuthan Shanmugasundram Publications for gene: PLOD2 were updated from 15523624 to 35278031; 15523624
DDG2P v3.11 PLOD1 Achchuthan Shanmugasundram Publications for gene: PLOD1 were updated from 5016372; 9450904; 1345174; 8163671 to 8163671; 5016372; 1345174; 9450904
DDG2P v3.11 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Publications for gene: PLEC were updated from to 35579050
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 PLCH1 Achchuthan Shanmugasundram gene: PLCH1 was added
gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to HPE-related disorder
Mode of pathogenicity for gene: PLCH1 was set to Other
DDG2P v3.11 PLCE1 Achchuthan Shanmugasundram Publications for gene: PLCE1 were updated from 17086182; 20591883 to 20591883; 17086182
DDG2P v3.11 PLCB4 Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB4.
Mode of pathogenicity for gene PLCB4 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLCB1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLAA Achchuthan Shanmugasundram Source Expert Review Green was added to PLAA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PKHD1 Achchuthan Shanmugasundram Publications for gene: PKHD1 were updated from 11919560; 19021639; 12506140 to 19021639; 12506140; 11919560
DDG2P v3.11 PKD1L1 Achchuthan Shanmugasundram Publications for gene: PKD1L1 were updated from 27616478 to 27616478; 35691949
DDG2P v3.11 PITX2 Achchuthan Shanmugasundram Publications for gene: PITX2 were updated from 8944018; 11301317; 11487566 to 11301317; 15591271; 11487566; 7581385; 8944018; 22224469; 8942889
DDG2P v3.11 PITX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PITX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIP5K1C Achchuthan Shanmugasundram Mode of pathogenicity for gene PIP5K1C was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIK3R2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3R2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIK3R1 Achchuthan Shanmugasundram Publications for gene: PIK3R1 were updated from 22351933 to 23810379; 28472977; 23810378; 22351933
DDG2P v3.11 PIK3CA Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3CA was changed from Other - please provide details in the comments to Other
Publications for gene: PIK3CA were updated from 22729224 to 22658544; 22729224
DDG2P v3.11 PIH1D3 Achchuthan Shanmugasundram Source Expert Review Green was added to PIH1D3.
Publications for gene: PIH1D3 were updated from 28041644 to 28041644; 28176794
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGY Achchuthan Shanmugasundram Source Expert Review Green was added to PIGY.
Mode of pathogenicity for gene PIGY was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGW Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGW was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGV Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGV was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGU Achchuthan Shanmugasundram Source Expert Review Green was added to PIGU.
Mode of inheritance for gene PIGU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene PIGU was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGT Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGT was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGS Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGN Achchuthan Shanmugasundram Source Expert Review Green was added to PIGN.
Mode of pathogenicity for gene PIGN was changed from Other - please provide details in the comments to Other
Publications for gene: PIGN were updated from 21493957 to 21493957; 36322149
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGK Achchuthan Shanmugasundram gene: PIGK was added
gene: PIGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to PIGK-associated Neurodevelopmental Syndrome
DDG2P v3.11 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052
Phenotypes for gene: PIGH were set to GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010
DDG2P v3.11 PIGG Achchuthan Shanmugasundram Source Expert Review Green was added to PIGG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIEZO2 Achchuthan Shanmugasundram Publications for gene: PIEZO2 were updated from 27653382; 27974811; 27912047 to 27974811; 27653382; 27912047; 24726473
DDG2P v3.11 PIEZO1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIEZO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379
Phenotypes for gene: PIDD1 were set to PIDD1-related neurodevelopmental disorder
DDG2P v3.11 PIBF1 Achchuthan Shanmugasundram gene: PIBF1 was added
gene: PIBF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 29695797; 26167768
Phenotypes for gene: PIBF1 were set to JOUBERT SYNDROME 33, OMIM:617767
DDG2P v3.11 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310; 34415322; 25855803
Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
DDG2P v3.11 PHOX2B Achchuthan Shanmugasundram Mode of pathogenicity for gene PHOX2B was changed from Other - please provide details in the comments to Other
Publications for gene: PHOX2B were updated from 15024693; 12438263; 16691592 to 16691592; 16888290; 12640453; 12438263; 15024693
DDG2P v3.11 PHIP Achchuthan Shanmugasundram Publications for gene: PHIP were updated from 29209020; 23033978 to 23033978; 29209020
DDG2P v3.11 PHGDH Achchuthan Shanmugasundram Publications for gene: PHGDH were updated from 19235232; 11055895; 11034457 to 11034457; 11055895; 24836451; 19235232
DDG2P v3.11 PHF6 Achchuthan Shanmugasundram Mode of inheritance for gene PHF6 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: PHF6 were updated from 15994862; 12415272; 15466013 to 35662002; 15466013; 15994862; 12415272
DDG2P v3.11 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Publications for gene: PHF21A were updated from to 36843358; 36876344
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PHC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PHC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PHACTR1 Achchuthan Shanmugasundram Source Expert Review Green was added to PHACTR1.
Mode of pathogenicity for gene PHACTR1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PGM2L1 Achchuthan Shanmugasundram gene: PGM2L1 was added
gene: PGM2L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to PGM2L1-related neurodevelopmental disorder
DDG2P v3.11 PGK1 Achchuthan Shanmugasundram Publications for gene: PGK1 were updated from 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 to 16567715; 9512313; 1586722; 8673469; 1547346; 6933565; 16740138; 19157875; 9744480; 6941312
DDG2P v3.11 PGAP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PGAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to PGAP1.
Publications for gene: PGAP1 were updated from 24784135; 26050939; 25804403 to 25804403; 26050939; 24784135
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PEX7 Achchuthan Shanmugasundram Publications for gene: PEX7 were updated from 9090381; 10083738; 12325024 to 9090381; 9090382; 12325024; 10083738; 9090383
DDG2P v3.11 PEX26 Achchuthan Shanmugasundram Publications for gene: PEX26 were updated from to 12851857
DDG2P v3.11 PEX2 Achchuthan Shanmugasundram Publications for gene: PEX2 were updated from to 14630978; 10528859
DDG2P v3.11 PEX1 Achchuthan Shanmugasundram Publications for gene: PEX1 were updated from to 9398847
DDG2P v3.11 PET100 Achchuthan Shanmugasundram Source Expert Review Green was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PEPD Achchuthan Shanmugasundram Publications for gene: PEPD were updated from 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682 to 8900231; 1972707; 19308961; 17142620; 16470701; 2365824; 6637477; 15309682
DDG2P v3.11 PECR Achchuthan Shanmugasundram Mode of pathogenicity for gene PECR was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PDSS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1.
Mode of pathogenicity for gene PDSS1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDIA6 Achchuthan Shanmugasundram gene: PDIA6 was added
gene: PDIA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992; 35856135
Phenotypes for gene: PDIA6 were set to PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy
DDG2P v3.11 PDHX Achchuthan Shanmugasundram Publications for gene: PDHX were updated from 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 to 21937992; 17152059; 16566017; 9399911; 11935326; 8584393; 12557299; 8229524; 9467010
DDG2P v3.11 PDHA1 Achchuthan Shanmugasundram Publications for gene: PDHA1 were updated from 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 to 8199595; 1909778; 1909401; 3137520; 10486093; 1293379; 12379317; 9686362; 7573035; 1907799; 2378353; 2537010; 8771169; 8032855
DDG2P v3.11 PDGFRB Achchuthan Shanmugasundram Mode of pathogenicity for gene PDGFRB was changed from Other - please provide details in the comments to Other
Publications for gene: PDGFRB were updated from 26279204 to 30941910; 32291752; 29226947; 26279204; 28639748; 23731542; 25454926
DDG2P v3.11 PDE6H Achchuthan Shanmugasundram Source Expert Review Green was added to PDE6H.
Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDE4D Achchuthan Shanmugasundram Mode of pathogenicity for gene PDE4D was changed from Other - please provide details in the comments to Other
Publications for gene: PDE4D were updated from 22464252; 22464250; 23033274 to 22464250; 22464252; 23033274
DDG2P v3.11 PDE10A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE10A.
Mode of pathogenicity for gene PDE10A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDCD10 Achchuthan Shanmugasundram Publications for gene: PDCD10 were updated from to 16380626; 15543491
DDG2P v3.11 PCYT2 Achchuthan Shanmugasundram gene: PCYT2 was added
gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 32889549; 31637422
Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
DDG2P v3.11 PCYT1A Achchuthan Shanmugasundram Publications for gene: PCYT1A were updated from 24387990 to 24387991; 28272537; 24387990
DDG2P v3.11 PCGF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other
Publications for gene: PCGF2 were updated from to 30526864
DDG2P v3.11 PCDHGC4 Achchuthan Shanmugasundram gene: PCDHGC4 was added
gene: PCDHGC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures
DDG2P v3.11 PCDH19 Achchuthan Shanmugasundram Publications for gene: PCDH19 were updated from 19214208; 5116697; 18469813; 19752159 to 18469813; 5116697; 19752159; 19214208
DDG2P v3.11 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 28804758; 27164683; 30178464; 29556033; 30459466
Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280
DDG2P v3.11 PCCA Achchuthan Shanmugasundram Publications for gene: PCCA were updated from 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997 to 12189489; 8225321; 10101253; 8411997; 9683601; 9385377; 10820128; 9887338; 17966092; 8295402
DDG2P v3.11 PCBP2 Achchuthan Shanmugasundram gene: PCBP2 was added
gene: PCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCBP2 were set to PCBP2-related developmental disorder (monoallelic)
DDG2P v3.11 PCBD1 Achchuthan Shanmugasundram Publications for gene: PCBD1 were updated from 8352282; 9585615 to 9585615; 8352282
DDG2P v3.11 PC Achchuthan Shanmugasundram Publications for gene: PC were updated from 12112657; 9585612; 9585002; 19306334 to 9585612; 9585002; 19306334; 12112657
DDG2P v3.11 PBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PBX1.
Source DD-Gene2Phenotype was added to PBX1.
Mode of inheritance for gene PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes PBX1-related developmental disorder (monoallelic) for gene: PBX1
Publications for gene: PBX1 were updated from to 35451537
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 PAX8 Achchuthan Shanmugasundram Publications for gene: PAX8 were updated from 15356023; 15718293; 11502839; 9590296; 11232006 to 11232006; 15356023; 11502839; 15718293; 9590296
DDG2P v3.11 PAX6 Achchuthan Shanmugasundram Publications for gene: PAX6 were updated from 17595013; 17148041 to 17595013; 7668281; 12721955; 9931324; 15629294; 17148041
DDG2P v3.11 PAX3 Achchuthan Shanmugasundram Mode of inheritance for gene PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX3 were updated from 6859126 to 8490648; 1887852; 7726174; 8664898; 1347148; 35607853; 6859126; 26443304; 12949970; 14556253; 1303193; 1308353; 8447316; 20478267
DDG2P v3.11 PAX2 Achchuthan Shanmugasundram Publications for gene: PAX2 were updated from 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197 to 3377002; 9106533; 9760197; 2644560; 7795640; 11461952; 11093271
DDG2P v3.11 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 28657137; 29681087
Phenotypes for gene: PAX1 were set to OTOFACIOCERVICAL SYNDROME, OMIM:166780
DDG2P v3.11 PARP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PAPSS2 Achchuthan Shanmugasundram Publications for gene: PAPSS2 were updated from 22791835; 9714015; 19474428 to 9714015; 22791835; 19474428
DDG2P v3.11 PAN2 Achchuthan Shanmugasundram gene: PAN2 was added
gene: PAN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to 35304602
Phenotypes for gene: PAN2 were set to PAN2-related neurodevelopmental disorder with multiple congenital anomalies
DDG2P v3.11 PALB2 Achchuthan Shanmugasundram Publications for gene: PALB2 were updated from 17200671; 17200672 to 17200672; 17200671
DDG2P v3.11 PAK3 Achchuthan Shanmugasundram Publications for gene: PAK3 were updated from 17853471; 9332663; 8826460; 18523455; 12884430 to 12884430; 18523455; 8826460; 17853471; 24556213; 9332663
DDG2P v3.11 PAK1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAK1.
Mode of pathogenicity for gene PAK1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PAH Achchuthan Shanmugasundram Publications for gene: PAH were updated from 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 to 1671810; 2816939; 8098245; 1975559; 1301200; 1301947; 8829656; 1301201; 2840952; 2014802; 1709636; 2044609; 2564729; 8097261; 11935335; 2035532; 2071149; 2573272; 2309142; 9950317; 1769645; 1671881; 1360590; 1997387; 1363838; 3008810; 1301193; 1363837; 1312992; 7981714; 1358789; 8364546; 1349576; 2606484; 2574002; 1682235; 2884570; 1679030; 8088845
DDG2P v3.11 PAFAH1B1 Achchuthan Shanmugasundram Publications for gene: PAFAH1B1 were updated from 14581661; 10441340; 11502906; 15007136 to 15007136; 10441340; 11502906; 14581661
DDG2P v3.11 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Mode of pathogenicity for gene PACS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Mode of pathogenicity for gene PACS1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 P4HTM Achchuthan Shanmugasundram gene: P4HTM was added
gene: P4HTM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 35908151; 34285383; 30940925; 32965080
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493
DDG2P v3.11 P4HB Achchuthan Shanmugasundram Source Expert Review Green was added to P4HB.
Mode of pathogenicity for gene P4HB was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 P3H1 Achchuthan Shanmugasundram Publications for gene: P3H1 were updated from 17277775; 19088120 to 19088120; 17277775
DDG2P v3.11 OXR1 Achchuthan Shanmugasundram gene: OXR1 was added
gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
DDG2P v3.11 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were updated from 23281106; 1405472; 9671268; 10964512 to 10964512; 23281106; 1405472; 9671268
DDG2P v3.11 OTX2 Achchuthan Shanmugasundram Publications for gene: OTX2 were updated from 18854396; 20396904; 19965921; 19956411; 15846561; 18628516 to 15846561; 26974134; 19965921; 28388256; 20396904; 18628516; 19956411; 27299576; 18854396
DDG2P v3.11 OTULIN Achchuthan Shanmugasundram Publications for gene: OTULIN were updated from 27686184; 27523608; 27559085 to 27523608; 27686184; 27559085
DDG2P v3.11 OTUD6B Achchuthan Shanmugasundram Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 OTUD5 Achchuthan Shanmugasundram gene: OTUD5 was added
gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931
Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder
Mode of pathogenicity for gene: OTUD5 was set to Other
DDG2P v3.11 OTC Achchuthan Shanmugasundram Publications for gene: OTC were updated from 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 to 1480464; 7860064; 2347583; 3170748; 2037279; 9056557; 2035531; 11260212; 10405441; 1721894; 1353535; 2843770
DDG2P v3.11 OSGEP Achchuthan Shanmugasundram Source Expert Review Green was added to OSGEP.
Mode of pathogenicity for gene OSGEP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 OPHN1 Achchuthan Shanmugasundram Publications for gene: OPHN1 were updated from 12805098; 12807966; 16158428; 20528889; 9582072 to 20528889; 12805098; 12807966; 9582072; 16158428
DDG2P v3.11 ONECUT1 Achchuthan Shanmugasundram gene: ONECUT1 was added
gene: ONECUT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ONECUT1 were set to 34663987
Phenotypes for gene: ONECUT1 were set to ONECUT1-associated neonatal diabetes
DDG2P v3.11 OGT Achchuthan Shanmugasundram gene: OGT was added
gene: OGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OGT were set to OGT-related developmental disorder (hemizygous); OGT-related developmental disorder (X-linked dominant)
DDG2P v3.11 OGDHL Achchuthan Shanmugasundram gene: OGDHL was added
gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia
DDG2P v3.11 OGDH Achchuthan Shanmugasundram gene: OGDH was added
gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 36520152; 32383294
Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder
Mode of pathogenicity for gene: OGDH was set to Other
DDG2P v3.11 OFD1 Achchuthan Shanmugasundram Publications for gene: OFD1 were updated from 22353940; 19800048 to 11950863; 9198060; 15221448; 19800048; 9482645; 22353940; 16783569; 11179005
DDG2P v3.11 ODC1 Achchuthan Shanmugasundram gene: ODC1 was added
gene: ODC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ODC1 were set to ODC1-related developmental disorder (monoallelic)
DDG2P v3.11 OCRL Achchuthan Shanmugasundram Publications for gene: OCRL were updated from 15627218 to 15627218; 9632163; 9199559
DDG2P v3.11 OCLN Achchuthan Shanmugasundram gene: OCLN was added
gene: OCLN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 32240828; 26689621; 20727516; 28179633
Phenotypes for gene: OCLN were set to OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria
DDG2P v3.11 NYX Achchuthan Shanmugasundram Publications for gene: NYX were updated from 11062471; 16670814; 11062472 to 11062471; 11062472; 16670814
DDG2P v3.11 NUS1 Achchuthan Shanmugasundram Source Expert Review Green was added to NUS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP62 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP62.
Mode of pathogenicity for gene NUP62 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP54 Achchuthan Shanmugasundram gene: NUP54 was added
gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to 36333996
Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions
Mode of pathogenicity for gene: NUP54 was set to Other
DDG2P v3.11 NUP214 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP133 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP133.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP107 Achchuthan Shanmugasundram Source Expert Review Red was added to NUP107.
Publications for gene: NUP107 were updated from 26411495; 28280135 to 28280135; 26411495
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 NUDT2 Achchuthan Shanmugasundram gene: NUDT2 was added
gene: NUDT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 30059600; 27431290; 33058507
Phenotypes for gene: NUDT2 were set to NUDT2-related Developmental Disorder
DDG2P v3.11 NTRK2 Achchuthan Shanmugasundram Source Expert Review Green was added to NTRK2.
Mode of pathogenicity for gene NTRK2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NTRK1 Achchuthan Shanmugasundram Publications for gene: NTRK1 were updated from 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 to 19250380; 10233776; 10330344; 8145823; 10982191; 8696348; 10090906; 10861667
DDG2P v3.11 NTNG2 Achchuthan Shanmugasundram gene: NTNG2 was added
gene: NTNG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31372774; 31668703
Phenotypes for gene: NTNG2 were set to Developmental delay, hypotonia, and autistic features
DDG2P v3.11 NSUN2 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN2.
Mode of pathogenicity for gene NSUN2 was changed from Other - please provide details in the comments to Other
Publications for gene: NSUN2 were updated from 22541562; 22577224; 22541559; 21063731 to 22541559; 21063731; 22577224; 22541562
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly
DDG2P v3.11 NSMCE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NSDHL Achchuthan Shanmugasundram Publications for gene: NSDHL were updated from 11907515; 10710235 to 19377476; 11907515; 19842190; 10710235
DDG2P v3.11 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD2 were set to NSD2-related developmental disorder (monoallelic)
DDG2P v3.11 NSD1 Achchuthan Shanmugasundram Publications for gene: NSD1 were updated from 12525543; 11896389; 16222665 to 16222665; 12525543; 11896389
DDG2P v3.11 NRXN2 Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NRXN1 Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN1.
Publications for gene: NRXN1 were updated from to 22405623; 30031152; 30873608; 28289584; 27195815; 23495017
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NRROS Achchuthan Shanmugasundram gene: NRROS was added
gene: NRROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32197075
Phenotypes for gene: NRROS were set to NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification
DDG2P v3.11 NRCAM Achchuthan Shanmugasundram gene: NRCAM was added
gene: NRCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity
DDG2P v3.11 NRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NR4A2 Achchuthan Shanmugasundram gene: NR4A2 was added
gene: NR4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR4A2 were set to NR4A2-related developmental disorder (monoallelic)
DDG2P v3.11 NR2F1 Achchuthan Shanmugasundram Publications for gene: NR2F1 were updated from 24462372 to 24462372; 26986877
DDG2P v3.11 NR1I3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NPR3 Achchuthan Shanmugasundram Source Expert Review Green was added to NPR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NPR2 Achchuthan Shanmugasundram Publications for gene: NPR2 were updated from to 15146390
DDG2P v3.11 NPM1 Achchuthan Shanmugasundram Source Expert Review Green was added to NPM1.
Mode of pathogenicity for gene NPM1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NPHS2 Achchuthan Shanmugasundram Publications for gene: NPHS2 were updated from 12464671; 8589695; 8606597; 10742096 to 10742096; 8606597; 12464671; 8589695
DDG2P v3.11 NPHS1 Achchuthan Shanmugasundram Publications for gene: NPHS1 were updated from 17290294; 11854170; 10577936; 9660941; 10652016 to 9660941; 10652016; 10577936; 17290294; 11854170
DDG2P v3.11 NPHP1 Achchuthan Shanmugasundram Publications for gene: NPHP1 were updated from 9326933; 10839884; 8852662; 9382140 to 9326933; 9382140; 8852662; 10839884
DDG2P v3.11 NPC2 Achchuthan Shanmugasundram Publications for gene: NPC2 were updated from 11125141; 11567215; 12447927; 17470133 to 12447927; 17470133; 11125141; 11567215
DDG2P v3.11 NPC1 Achchuthan Shanmugasundram Publications for gene: NPC1 were updated from 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 to 11333381; 9245994; 9211849; 12554680; 10521297; 11479732; 11349231; 10480349
DDG2P v3.11 NOVA2 Achchuthan Shanmugasundram Source Expert Review Green was added to NOVA2.
Publications for gene: NOVA2 were updated from to 32197073
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOTCH3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NOTCH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other
Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856
DDG2P v3.11 NOTCH1 Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH1.
Publications for gene: NOTCH1 were updated from 25132448 to 25132448; 16025100
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOP10 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Publications for gene: NONO were updated from 26571461; 27329731 to 36426740; 26571461; 27329731
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOG Achchuthan Shanmugasundram Publications for gene: NOG were updated from 17668388 to 12089654; 15770128; 17668388; 11846737; 10069712; 11545688; 20503332
DDG2P v3.11 NMNAT1 Achchuthan Shanmugasundram Publications for gene: NMNAT1 were updated from 22842227; 22842230; 12734549 to 22842229; 24830548; 26464178; 26316326; 22842227; 12734549; 24940029; 22842230
DDG2P v3.11 NLGN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NKX6-2 Achchuthan Shanmugasundram Source Expert Review Green was added to NKX6-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NKX2-5 Achchuthan Shanmugasundram Publications for gene: NKX2-5 were updated from to 20807224; 16418214; 11714651; 19948535
DDG2P v3.11 NKAP Achchuthan Shanmugasundram gene: NKAP was added
gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NKAP were set to 31587868
Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment
Mode of pathogenicity for gene: NKAP was set to Other
DDG2P v3.11 NIPBL Achchuthan Shanmugasundram Publications for gene: NIPBL were updated from 15146185; 16799922; 15146186; 15318302; 11391654 to 15318302; 15146185; 11391654; 15146186; 16799922; 35446447
DDG2P v3.11 NHS Achchuthan Shanmugasundram Publications for gene: NHS were updated from 19414485; 11836358 to 15623749; 14564667; 458526; 2246772; 19414485; 11836358
DDG2P v3.11 NHP2 Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2.
Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NHLRC2 Achchuthan Shanmugasundram gene: NHLRC2 was added
gene: NHLRC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 34165204; 32435055; 29423877
Phenotypes for gene: NHLRC2 were set to NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278
DDG2P v3.11 NFU1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NFU1 was changed from Other - please provide details in the comments to Other
Publications for gene: NFU1 were updated from 22077971; 11156534 to 11156534; 22077971
DDG2P v3.11 NFIX Achchuthan Shanmugasundram Publications for gene: NFIX were updated from 20673863 to 20673863; 29897170; 22301465
DDG2P v3.11 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NFE2L2 Achchuthan Shanmugasundram gene: NFE2L2 was added
gene: NFE2L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744
Mode of pathogenicity for gene: NFE2L2 was set to Other
DDG2P v3.11 NF1 Achchuthan Shanmugasundram Publications for gene: NF1 were updated from 1745350; 9529361; 11704931 to 11258625; 1745350; 9529361; 12483293; 10712197; 1937470; 12438263; 9003501; 1302608; 1783401; 12707950; 15523642; 15520408; 7655472; 11704931; 9668168; 10677298; 30308447; 7633431; 13680360; 8317503; 8664912; 1719426; 1568247; 19449407; 19845691; 15948193
DDG2P v3.11 NEXMIF Achchuthan Shanmugasundram Source Expert Review Green was added to NEXMIF.
Publications for gene: NEXMIF were updated from 27568816; 26576034; 27358180 to 33144681; 23615299; 26576034; 15466006; 27568816; 27358180
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NEU1 Achchuthan Shanmugasundram Publications for gene: NEU1 were updated from 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139 to 11829139; 11702224; 14695530; 10944856; 10767332; 8985184; 11470272; 9054950
DDG2P v3.11 NEK8 Achchuthan Shanmugasundram Source Expert Review Green was added to NEK8.
Publications for gene: NEK8 were updated from 23418306 to 18199800; 23418306
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NEDD4L Achchuthan Shanmugasundram Source Expert Review Green was added to NEDD4L.
Mode of pathogenicity for gene NEDD4L was changed from Other - please provide details in the comments to Other
Publications for gene: NEDD4L were updated from 23934111; 28515470; 27694961 to 27694961; 23934111; 28515470
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NECTIN4 Achchuthan Shanmugasundram Publications for gene: NECTIN4 were updated from 1646587; 21346770; 20691405 to 20691405; 21346770; 1646587
DDG2P v3.11 NEB Achchuthan Shanmugasundram Publications for gene: NEB were updated from 27105866; 27933661; 10051637 to 27105866; 10051637; 27933661
DDG2P v3.11 NDUFV2 Achchuthan Shanmugasundram gene: NDUFV2 was added
gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to 26008862; 33811136
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Mode of pathogenicity for gene: NDUFV2 was set to Other
DDG2P v3.11 NDUFV1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFV1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFS8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFB8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFB7 Achchuthan Shanmugasundram gene: NDUFB7 was added
gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047
Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy
DDG2P v3.11 NDUFB3 Achchuthan Shanmugasundram gene: NDUFB3 was added
gene: NDUFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB3 were set to 27091925; 22499348; 22277967
Phenotypes for gene: NDUFB3 were set to NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246
DDG2P v3.11 NDUFB11 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFAF8 Achchuthan Shanmugasundram gene: NDUFAF8 was added
gene: NDUFAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to NDUFAF8-related Leigh Syndrome
DDG2P v3.11 NDUFAF2 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFA8 Achchuthan Shanmugasundram gene: NDUFA8 was added
gene: NDUFA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related developmental disorder
DDG2P v3.11 NDUFA6 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFA12 Achchuthan Shanmugasundram gene: NDUFA12 was added
gene: NDUFA12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 33715266; 21617257
Phenotypes for gene: NDUFA12 were set to NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244
DDG2P v3.11 NDUFA10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA10.
Mode of pathogenicity for gene NDUFA10 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDST1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDP Achchuthan Shanmugasundram Publications for gene: NDP were updated from 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152 to 7627181; 1307245; 8790105; 7814011; 24801666; 9382152; 17334993; 8069314; 8268931; 16163268; 17296899; 9143918; 1303264; 8240113; 8990009
DDG2P v3.11 NDNF Achchuthan Shanmugasundram gene: NDNF was added
gene: NDNF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NDNF were set to 31883645
Phenotypes for gene: NDNF were set to NDNF-related Congenital Hypogonadotrophic Hypogonadism
DDG2P v3.11 NDE1 Achchuthan Shanmugasundram Publications for gene: NDE1 were updated from 21529751; 21529752 to 21529752; 21529751
DDG2P v3.11 NCOR1 Achchuthan Shanmugasundram gene: NCOR1 was added
gene: NCOR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NCOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCOR1 were set to 30289594; 27824329
Phenotypes for gene: NCOR1 were set to NCOR1-related developmental disorder
DDG2P v3.11 NCKAP1 Achchuthan Shanmugasundram gene: NCKAP1 was added
gene: NCKAP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCKAP1 were set to 33157009
Phenotypes for gene: NCKAP1 were set to NCKAP1-related Neurodevelopmental Disorder
DDG2P v3.11 NCDN Achchuthan Shanmugasundram gene: NCDN was added
gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCDN were set to 33711248
Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic)
Mode of pathogenicity for gene: NCDN was set to Other
DDG2P v3.11 NCAPG2 Achchuthan Shanmugasundram Source Expert Review Green was added to NCAPG2.
Mode of pathogenicity for gene NCAPG2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NCAPD3 Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NCAPD2 Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NBN Achchuthan Shanmugasundram Publications for gene: NBN were updated from 3802554; 9590180 to 9590180; 3802554
DDG2P v3.11 NBEA Achchuthan Shanmugasundram Source Expert Review Green was added to NBEA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAXE Achchuthan Shanmugasundram Source Expert Review Green was added to NAXE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAXD Achchuthan Shanmugasundram Source Expert Review Green was added to NAXD.
Mode of inheritance for gene NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NARS2 Achchuthan Shanmugasundram gene: NARS2 was added
gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079
Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency
DDG2P v3.11 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic)
DDG2P v3.11 NAPB Achchuthan Shanmugasundram gene: NAPB was added
gene: NAPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 28097321; 26235277; 33189936
Phenotypes for gene: NAPB were set to NAPB-related Neurodevelopmental Disorder
DDG2P v3.11 NALCN Achchuthan Shanmugasundram Publications for gene: NALCN were updated from 24075186 to 25683120; 24075186; 23749988
DDG2P v3.11 NAGS Achchuthan Shanmugasundram Publications for gene: NAGS were updated from 12754705; 12594532 to 12594532; 12754705
DDG2P v3.11 NAGLU Achchuthan Shanmugasundram Publications for gene: NAGLU were updated from 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 to 11068184; 21937992; 12202988; 10094189; 8650226; 9832037
DDG2P v3.11 NAGA Achchuthan Shanmugasundram Publications for gene: NAGA were updated from 2243144; 8071745 to 2564952; 2243144; 8071745; 11251574; 8782044
DDG2P v3.11 NAE1 Achchuthan Shanmugasundram gene: NAE1 was added
gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAE1 were set to 36608681
Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Mode of pathogenicity for gene: NAE1 was set to Other
DDG2P v3.11 NADSYN1 Achchuthan Shanmugasundram gene: NADSYN1 was added
gene: NADSYN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644; 35491967
Phenotypes for gene: NADSYN1 were set to NADSYN1-related Congenital NAD Deficiency Disorder
DDG2P v3.11 NACC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NACC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NAA20 Achchuthan Shanmugasundram gene: NAA20 was added
gene: NAA20 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to 34230638
Phenotypes for gene: NAA20 were set to NAA20-associated developmental delay and microcephaly
Mode of pathogenicity for gene: NAA20 was set to Other
DDG2P v3.11 NAA15 Achchuthan Shanmugasundram Source Expert Review Green was added to NAA15.
Publications for gene: NAA15 were updated from 28191889; 23665959 to 28191889; 29656860; 23665959
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAA10 Achchuthan Shanmugasundram Publications for gene: NAA10 were updated from 24431331 to 24431331; 30842225; 21700266; 25099252
DDG2P v3.11 MYT1L Achchuthan Shanmugasundram Publications for gene: MYT1L were updated from to 28859103
DDG2P v3.11 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411
Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116
DDG2P v3.11 MYRF Achchuthan Shanmugasundram Source Expert Review Green was added to MYRF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYPN Achchuthan Shanmugasundram Source Expert Review Green was added to MYPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYOCD Achchuthan Shanmugasundram Source Expert Review Green was added to MYOCD.
Mode of inheritance for gene MYOCD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYO7A Achchuthan Shanmugasundram Publications for gene: MYO7A were updated from 7870171 to 7870171; 9171833
DDG2P v3.11 MYO5B Achchuthan Shanmugasundram Publications for gene: MYO5B were updated from 18724368; 19006234 to 19006234; 18724368
DDG2P v3.11 MYO5A Achchuthan Shanmugasundram Publications for gene: MYO5A were updated from 12148598 to 22711375; 9207796; 12148598
DDG2P v3.11 MYO18B Achchuthan Shanmugasundram gene: MYO18B was added
gene: MYO18B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 25748484; 31195167; 27858739; 32184166; 32637634
Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549
DDG2P v3.11 MYLPF Achchuthan Shanmugasundram gene: MYLPF was added
gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic)
Mode of pathogenicity for gene: MYLPF was set to Other
DDG2P v3.11 MYLK Achchuthan Shanmugasundram Source Expert Review Green was added to MYLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYL1 Achchuthan Shanmugasundram gene: MYL1 was added
gene: MYL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414
DDG2P v3.11 MYH9 Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH9 was changed from to Other
Publications for gene: MYH9 were updated from 25077172 to 10973259; 25077172
DDG2P v3.11 MYH8 Achchuthan Shanmugasundram Source Expert Review Red was added to MYH8.
Publications for gene: MYH8 were updated from to 28377322; 15282353
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 MYH6 Achchuthan Shanmugasundram Source Expert Review Red was added to MYH6.
Publications for gene: MYH6 were updated from to 15735645; 29536580; 31638415; 20656787; 29969989; 29505555; 34481090
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH3 were updated from 16642020; 29805041 to 29805041; 18695058; 16642020
DDG2P v3.11 MYH11 Achchuthan Shanmugasundram Publications for gene: MYH11 were updated from 29575632; 25407000 to 25407000; 29575632
DDG2P v3.11 MYH10 Achchuthan Shanmugasundram Publications for gene: MYH10 were updated from 25356899; 25003005 to 25003005; 25356899
DDG2P v3.11 MYF5 Achchuthan Shanmugasundram Source Expert Review Green was added to MYF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYCN Achchuthan Shanmugasundram Publications for gene: MYCN were updated from 16906565; 18470948; 18671284; 15821734 to 16906565; 15821734; 18671284; 18470948
DDG2P v3.11 MYCBP2 Achchuthan Shanmugasundram gene: MYCBP2 was added
gene: MYCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYCBP2 were set to 36200388
Phenotypes for gene: MYCBP2 were set to MYCBP2-related developmental delay with corpus callosum defects
DDG2P v3.11 MYBPC1 Achchuthan Shanmugasundram gene: MYBPC1 was added
gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868
Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy
DDG2P v3.11 MUT Achchuthan Shanmugasundram Publications for gene: MUT were updated from 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 to 1670635; 11528502; 1977311; 7909321; 7951229; 2881300; 16451139; 16281286; 1968706; 17966092
DDG2P v3.11 MTSS1L Achchuthan Shanmugasundram gene: MTSS1L was added
gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTSS1L were set to 36067766
Phenotypes for gene: MTSS1L were set to MTSS2-associated syndromic intellectual disability
Mode of pathogenicity for gene: MTSS1L was set to Other
DDG2P v3.11 MTRR Achchuthan Shanmugasundram Publications for gene: MTRR were updated from 12555939; 15714522; 9501215 to 15714522; 9501215; 12555939
DDG2P v3.11 MTR Achchuthan Shanmugasundram Publications for gene: MTR were updated from 8968736; 9683607; 8968737; 12068375 to 8968737; 12068375; 8968736; 9683607
DDG2P v3.11 MTOR Achchuthan Shanmugasundram Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other
Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148
DDG2P v3.11 MTM1 Achchuthan Shanmugasundram Publications for gene: MTM1 were updated from 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 to 9285787; 8640223; 12707446; 7611280; 9450905; 12859411; 11552027; 10790201
DDG2P v3.11 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 34075211
Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder
Mode of pathogenicity for gene: MT-TL1 was set to Other
DDG2P v3.11 MSX1 Achchuthan Shanmugasundram Publications for gene: MSX1 were updated from 12807959; 15354328 to 11369996; 15354328; 12807959
DDG2P v3.11 MSL2 Achchuthan Shanmugasundram gene: MSL2 was added
gene: MSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MSL2 were set to 33057194; 31332282
Phenotypes for gene: MSL2 were set to MSL2-related developmental disorder (monoallelic)
DDG2P v3.11 MSI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MRPS34 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRPS22 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS22.
Mode of pathogenicity for gene MRPS22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRPS2 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS2.
Mode of pathogenicity for gene MRPS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRE11 Achchuthan Shanmugasundram Publications for gene: MRE11 were updated from 10612394 to 11371508; 24332946; 15269180; 10612394
DDG2P v3.11 MRAS Achchuthan Shanmugasundram gene: MRAS was added
gene: MRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MRAS were set to 28289718; 31173466; 31108500
Phenotypes for gene: MRAS were set to NOONAN SYNDROME 11, OMIM:618499
Mode of pathogenicity for gene: MRAS was set to Other
DDG2P v3.11 MPZ Achchuthan Shanmugasundram gene: MPZ was added
gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628
Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184
Mode of pathogenicity for gene: MPZ was set to Other
DDG2P v3.11 MPV17 Achchuthan Shanmugasundram Publications for gene: MPV17 were updated from 18695062; 16582910 to 16582910; 18695062
DDG2P v3.11 MPI Achchuthan Shanmugasundram Publications for gene: MPI were updated from 9585601; 9525984; 3080572 to 9525984; 9585601; 3080572
DDG2P v3.11 MPC2 Achchuthan Shanmugasundram gene: MPC2 was added
gene: MPC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to MPC2-related metabolic disorder
Mode of pathogenicity for gene: MPC2 was set to Other
DDG2P v3.11 MORC2 Achchuthan Shanmugasundram Source Expert Review Green was added to MORC2.
Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene MORC2 was changed from to Other
Publications for gene: MORC2 were updated from 26497905 to 32693025; 30624633; 28771897; 26497905
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 MOGS Achchuthan Shanmugasundram Source Expert Review Green was added to MOGS.
Mode of pathogenicity for gene MOGS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MNX1 Achchuthan Shanmugasundram Publications for gene: MNX1 were updated from 9843207; 15216552; 10631160; 16906559; 7550324 to 15216552; 16906559; 10631160; 7550324; 9843207
DDG2P v3.11 MN1 Achchuthan Shanmugasundram Source Expert Review Green was added to MN1.
Publications for gene: MN1 were updated from 21242494 to 31839203; 31834374; 21242494
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MMP15 Achchuthan Shanmugasundram gene: MMP15 was added
gene: MMP15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 34988996; 33875846
Phenotypes for gene: MMP15 were set to MMP15-related developmental disorder
DDG2P v3.11 MMP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP14 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MMP13 Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP13 was changed from Other - please provide details in the comments to Other
Publications for gene: MMP13 were updated from 8412645; 19615667 to 19615667; 8412645
DDG2P v3.11 MMGT1 Achchuthan Shanmugasundram gene: MMGT1 was added
gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MMGT1 were set to 33057194
Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder
Mode of pathogenicity for gene: MMGT1 was set to Other
DDG2P v3.11 MMACHC Achchuthan Shanmugasundram Publications for gene: MMACHC were updated from 16311595; 16714133; 11320193; 20631720 to 20631720; 16311595; 16714133; 25687216; 11320193
DDG2P v3.11 MLC1 Achchuthan Shanmugasundram Publications for gene: MLC1 were updated from 11254442; 12189496; 14615938; 11935341; 21624973 to 11935341; 11254442; 12189496; 21624973; 14615938
DDG2P v3.11 MITF Achchuthan Shanmugasundram Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MITF were updated from 27889061 to 8490648; 9158138; 10851256; 7874167; 9856573; 8589691; 27889061
DDG2P v3.11 MIR184 Achchuthan Shanmugasundram Mode of pathogenicity for gene MIR184 was changed from Other - please provide details in the comments to Other
Publications for gene: MIR184 were updated from 21996275 to 24138095; 23833072; 21996275; 27195078; 25373792
DDG2P v3.11 MIR17HG Achchuthan Shanmugasundram Source Expert Review Green was added to MIR17HG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MIB1 Achchuthan Shanmugasundram gene: MIB1 was added
gene: MIB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIB1 were set to 33057194; 30322850
Phenotypes for gene: MIB1 were set to MIB1-related developmental disorder (monoallelic)
DDG2P v3.11 MGAT2 Achchuthan Shanmugasundram Publications for gene: MGAT2 were updated from 11228641; 20684000; 8808595 to 8808595; 11228641; 20684000
DDG2P v3.11 MFSD2A Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MFRP Achchuthan Shanmugasundram Publications for gene: MFRP were updated from 17167404 to 15976030; 17167404; 1258954
DDG2P v3.11 MFN2 Achchuthan Shanmugasundram gene: MFN2 was added
gene: MFN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MFN2 were set to 33057194
Phenotypes for gene: MFN2 were set to MFN2-related developmental disorder
Mode of pathogenicity for gene: MFN2 was set to Other
DDG2P v3.11 MFF Achchuthan Shanmugasundram gene: MFF was added
gene: MFF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to 26783368; 30581454; 22499341; 32181496
Phenotypes for gene: MFF were set to ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086
DDG2P v3.11 METTL5 Achchuthan Shanmugasundram Source Expert Review Green was added to METTL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 METTL23 Achchuthan Shanmugasundram gene: METTL23 was added
gene: METTL23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 32067349; 24626631; 24501276
Phenotypes for gene: METTL23 were set to METTL23-related Intellectual Disability
DDG2P v3.11 MESP2 Achchuthan Shanmugasundram Publications for gene: MESP2 were updated from 18485326; 15122512 to 15122512; 18485326
DDG2P v3.11 MESD Achchuthan Shanmugasundram Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MEOX1 Achchuthan Shanmugasundram Source Expert Review Green was added to MEOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MEIS2 Achchuthan Shanmugasundram gene: MEIS2 was added
gene: MEIS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEIS2 were set to MEIS2-related developmental disorder (monoallelic)
DDG2P v3.11 MEGF10 Achchuthan Shanmugasundram Publications for gene: MEGF10 were updated from 22101682; 17236770; 22371254 to 17236770; 22101682; 22371254
DDG2P v3.11 MEF2C Achchuthan Shanmugasundram Publications for gene: MEF2C were updated from 20513142; 23001426; 19592390 to 19592390; 34022131; 35719119; 20513142; 23001426
DDG2P v3.11 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to MED27-related neurodevelopmental disorder
DDG2P v3.11 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310
Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449
Mode of pathogenicity for gene: MED25 was set to Other
DDG2P v3.11 MED23 Achchuthan Shanmugasundram Mode of pathogenicity for gene MED23 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MED17 Achchuthan Shanmugasundram Source Expert Review Green was added to MED17.
Mode of pathogenicity for gene MED17 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED13L Achchuthan Shanmugasundram Source Expert Review Green was added to MED13L.
Publications for gene: MED13L were updated from 23403903 to 25712080; 29511999; 25758992; 25137640; 24781760; 28371282; 28645799; 29159987; 29959045; 23403903
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED13 Achchuthan Shanmugasundram Source Expert Review Green was added to MED13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED12 Achchuthan Shanmugasundram Mode of inheritance for gene MED12 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: MED12 were updated from 6711603 to 33244166; 17369503; 31536828; 6711603; 24123922; 17334363; 24715367; 28544239; 27980443; 27312080; 33244165; 30006928; 27286923; 27500536; 35385210
DDG2P v3.11 MED11 Achchuthan Shanmugasundram gene: MED11 was added
gene: MED11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder
Mode of pathogenicity for gene: MED11 was set to Other
DDG2P v3.11 MECR Achchuthan Shanmugasundram Source Expert Review Green was added to MECR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MECP2 Achchuthan Shanmugasundram Publications for gene: MECP2 were updated from 11402105; 11238684; 29618507 to 15689435; 10232754; 11313756; 11402105; 19034540; 11007980; 9377804; 10814718; 15034579; 10854091; 29618507; 11238684; 16966553; 12481990; 10508514; 10767337; 11022934; 16630165; 12615169; 15857422; 18989701; 10577905; 11930274; 11807877; 11214906
DDG2P v3.11 MECOM Achchuthan Shanmugasundram Source Expert Review Green was added to MECOM.
Mode of pathogenicity for gene MECOM was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to MDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MCPH1 Achchuthan Shanmugasundram Publications for gene: MCPH1 were updated from 12046007; 7693575; 11857108; 16311745; 20978018 to 20978018; 7693575; 16311745; 12046007; 11857108
DDG2P v3.11 MCOLN1 Achchuthan Shanmugasundram Publications for gene: MCOLN1 were updated from 10441585; 15523648; 17239335; 10973263; 11030752 to 11030752; 10441585; 10973263; 15523648; 17239335
DDG2P v3.11 MC2R Achchuthan Shanmugasundram Publications for gene: MC2R were updated from 8227361; 18407210; 12213892; 18492762; 8636348; 8094489 to 18407210; 18492762; 8094489; 8636348; 8227361; 12213892
DDG2P v3.11 MBOAT7 Achchuthan Shanmugasundram Source Expert Review Green was added to MBOAT7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MBD5 Achchuthan Shanmugasundram Source Expert Review Green was added to MBD5.
Publications for gene: MBD5 were updated from to 23422940
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 MAU2 Achchuthan Shanmugasundram gene: MAU2 was added
gene: MAU2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 32433956
Phenotypes for gene: MAU2 were set to MAU2 neurodevelopmental disorder
DDG2P v3.11 MATN3 Achchuthan Shanmugasundram Mode of pathogenicity for gene MATN3 was changed from Other - please provide details in the comments to Other
Publications for gene: MATN3 were updated from 15948199; 11479597; 13849708; 14729835 to 14729835; 15948199; 13849708; 11479597
DDG2P v3.11 MAT1A Achchuthan Shanmugasundram Source Expert Review Green was added to MAT1A.
Publications for gene: MAT1A were updated from 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 to 7560086; 4421454; 3812486; 8770875; 1527987; 7229751; 1683972; 10677294
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: MAST1 was set to Other
DDG2P v3.11 MASP1 Achchuthan Shanmugasundram Publications for gene: MASP1 were updated from 17937425; 21258343; 21035106 to 21258343; 21035106; 17937425
DDG2P v3.11 MAPRE2 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAPRE2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to MAPKAPK5-associated syndrome with synpolydactyly
DDG2P v3.11 MAPK8IP3 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to MAPK1-related Neurodevelopmental Disorder
Mode of pathogenicity for gene: MAPK1 was set to Other
DDG2P v3.11 MAP3K7 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP3K7.
Mode of pathogenicity for gene MAP3K7 was changed from Other - please provide details in the comments to Other
Publications for gene: MAP3K7 were updated from 27426734; 27426733 to 27426733; 27426734
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAP3K1 Achchuthan Shanmugasundram Publications for gene: MAP3K1 were updated from 5419329; 21129722; 12476449 to 21129722; 5419329; 12476449
DDG2P v3.11 MAP2K2 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAP2K1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAOA Achchuthan Shanmugasundram Source Expert Review Green was added to MAOA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MANBA Achchuthan Shanmugasundram Publications for gene: MANBA were updated from 16401745; 12890191; 3762648; 1499588; 2079835; 1623631 to 1499588; 16401745; 3762648; 2079835; 12890191; 1623631
DDG2P v3.11 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to MAN2C1-associated neurodevelopmental disorder with cerebral malformations
DDG2P v3.11 MAN2B1 Achchuthan Shanmugasundram Publications for gene: MAN2B1 were updated from 22161967; 4358183; 9158146; 9758606 to 9758606; 9158146; 4358183; 22161967
DDG2P v3.11 MAN2A2 Achchuthan Shanmugasundram gene: MAN2A2 was added
gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation
Mode of pathogenicity for gene: MAN2A2 was set to Other
DDG2P v3.11 MAN1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAN1B1 was changed from Other - please provide details in the comments to Other
Publications for gene: MAN1B1 were updated from 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 to 21937992; 26279649; 24566669; 26577042; 21763484; 24348268
DDG2P v3.11 MAMLD1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAMLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAGEL2 Achchuthan Shanmugasundram Publications for gene: MAGEL2 were updated from 26365340 to 27195816; 26365340; 24076603
DDG2P v3.11 MAFB Achchuthan Shanmugasundram Publications for gene: MAFB were updated from 27181683 to 27181683; 22387013
DDG2P v3.11 MAF Achchuthan Shanmugasundram Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other
Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690
DDG2P v3.11 MADD Achchuthan Shanmugasundram gene: MADD was added
gene: MADD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 32761064
Phenotypes for gene: MADD were set to MADD-related developmental disorder
DDG2P v3.11 MACF1 Achchuthan Shanmugasundram Source Expert Review Green was added to MACF1.
Mode of pathogenicity for gene MACF1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAB21L2 Achchuthan Shanmugasundram Publications for gene: MAB21L2 were updated from 24906020 to 25719200; 24906020; 26116559
DDG2P v3.11 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Publications for gene: MAB21L1 were updated from 27103078; 30487245 to 30487245; 27103078
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LZTR1 Achchuthan Shanmugasundram Source Expert Review Green was added to LZTR1.
Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other
Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LYST Achchuthan Shanmugasundram Publications for gene: LYST were updated from 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 to 9215680; 11857544; 8896560; 8751863; 10482950; 9215679; 8751864
DDG2P v3.11 LTBP2 Achchuthan Shanmugasundram Publications for gene: LTBP2 were updated from 19656777; 19361779 to 20617341; 19361779; 22025892; 19656777; 20179738
DDG2P v3.11 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to LTBP1-related cutis laxa and craniosynostosis
DDG2P v3.11 LRRC56 Achchuthan Shanmugasundram Source Expert Review Green was added to LRRC56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRP5 Achchuthan Shanmugasundram Publications for gene: LRP5 were updated from 20034086; 11719191 to 15981244; 14727154; 11719191; 9056564; 15024691; 20034086; 12579474; 11741193; 9831343
DDG2P v3.11 LRP4 Achchuthan Shanmugasundram Publications for gene: LRP4 were updated from 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467 to 18978656; 9182770; 11260233; 14577675; 10756427; 12868467; 20381006
DDG2P v3.11 LRP2 Achchuthan Shanmugasundram Publications for gene: LRP2 were updated from 23033978 to 17632512; 29388841; 23992033; 23033978; 19577669
DDG2P v3.11 LRIT3 Achchuthan Shanmugasundram Source Expert Review Green was added to LRIT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRIG2 Achchuthan Shanmugasundram Source Expert Review Green was added to LRIG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRBA Achchuthan Shanmugasundram Source Expert Review Green was added to LRBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRAT Achchuthan Shanmugasundram Source Expert Review Green was added to LRAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LONP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LONP1.
Publications for gene: LONP1 were updated from 25574826 to 34547244; 25574826
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LNPK Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK.
Publications for gene: LNPK were updated from 30032983 to 35599435; 30032983
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 LMX1B Achchuthan Shanmugasundram Publications for gene: LMX1B were updated from 9618165; 9837817; 10854116; 9590287; 18414507 to 10854116; 9837817; 9590287; 9618165; 18414507
DDG2P v3.11 LMOD3 Achchuthan Shanmugasundram gene: LMOD3 was added
gene: LMOD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to 31572445; 30642739; 28815944; 30291184; 25250574; 29331079; 32008911
Phenotypes for gene: LMOD3 were set to NEMALINE MYOPATHY 10, OMIM:616165
DDG2P v3.11 LMNB2 Achchuthan Shanmugasundram gene: LMNB2 was added
gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB2 were set to 33033404
Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly
Mode of pathogenicity for gene: LMNB2 was set to Other
DDG2P v3.11 LMNB1 Achchuthan Shanmugasundram gene: LMNB1 was added
gene: LMNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB1 were set to 32910914; 33033404
Phenotypes for gene: LMNB1 were set to LMNB1-associated developmental disorder
Mode of pathogenicity for gene: LMNB1 was set to Other
DDG2P v3.11 LMNA Achchuthan Shanmugasundram Mode of inheritance for gene LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNA were updated from to 10587585; 10655060
DDG2P v3.11 LMBRD2 Achchuthan Shanmugasundram gene: LMBRD2 was added
gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033
Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability
Mode of pathogenicity for gene: LMBRD2 was set to Other
DDG2P v3.11 LIPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2.
Mode of pathogenicity for gene LIPT2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIPT1 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT1.
Mode of pathogenicity for gene LIPT1 was changed from Other - please provide details in the comments to Other
Publications for gene: LIPT1 were updated from 24341803; 27247813; 24256811 to 27247813; 24341803; 24256811
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIPN Achchuthan Shanmugasundram Source Expert Review Green was added to LIPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LINS1 Achchuthan Shanmugasundram Source Expert Review Green was added to LINS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LINGO1 Achchuthan Shanmugasundram Source Expert Review Green was added to LINGO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIG4 Achchuthan Shanmugasundram Publications for gene: LIG4 were updated from 16357942 to 11779494; 16357942
DDG2P v3.11 LIFR Achchuthan Shanmugasundram gene: LIFR was added
gene: LIFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIFR were set to 27194968; 14740318
Phenotypes for gene: LIFR were set to Stuve-Wiedeman syndrome, OMIM:601559
DDG2P v3.11 LIAS Achchuthan Shanmugasundram Source Expert Review Green was added to LIAS.
Mode of pathogenicity for gene LIAS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LHX3 Achchuthan Shanmugasundram Publications for gene: LHX3 were updated from 18407919; 17327381; 10835633 to 18407919; 10835633; 17327381
DDG2P v3.11 LGI4 Achchuthan Shanmugasundram Source Expert Review Green was added to LGI4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LFNG Achchuthan Shanmugasundram Mode of pathogenicity for gene LFNG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 LETM1 Achchuthan Shanmugasundram gene: LETM1 was added
gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder
Mode of pathogenicity for gene: LETM1 was set to Other
DDG2P v3.11 LEMD3 Achchuthan Shanmugasundram Publications for gene: LEMD3 were updated from 17223882; 19438932; 12749062; 9295073; 15489854 to 19438932; 12749062; 17223882; 15489854; 9295073
DDG2P v3.11 LEMD2 Achchuthan Shanmugasundram Source Expert Review Green was added to LEMD2.
Mode of pathogenicity for gene LEMD2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LDB3 Achchuthan Shanmugasundram Source Expert Review Red was added to LDB3.
Mode of pathogenicity for gene LDB3 was changed from Other - please provide details in the comments to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 LAS1L Achchuthan Shanmugasundram Mode of inheritance for gene LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity for gene LAS1L was changed from to Other
Publications for gene: LAS1L were updated from 25644381 to 25644381; 34653234
DDG2P v3.11 LARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2.
Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LARP7 Achchuthan Shanmugasundram Publications for gene: LARP7 were updated from 26374271; 21937992; 26607181 to 21937992; 26374271; 26607181
DDG2P v3.11 LARGE1 Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344
DDG2P v3.11 LAMP2 Achchuthan Shanmugasundram Publications for gene: LAMP2 were updated from 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287 to 15907287; 8504498; 12112061; 10972294; 15253947; 15673802; 3087571
DDG2P v3.11 LAMB1 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LAMA2 Achchuthan Shanmugasundram Publications for gene: LAMA2 were updated from 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 to 12601554; 11591858; 9158149; 18700894; 7550355; 11071490; 16216942; 12552556
DDG2P v3.11 LAMA1 Achchuthan Shanmugasundram Publications for gene: LAMA1 were updated from 21937992 to 21937992; 25105227
DDG2P v3.11 LAGE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 L2HGDH Achchuthan Shanmugasundram Publications for gene: L2HGDH were updated from 19911013; 15385440 to 15385440; 19911013
DDG2P v3.11 L1CAM Achchuthan Shanmugasundram Publications for gene: L1CAM were updated from 7920659; 7920660; 3460961 to 3460961; 15368500; 7920660; 9643285; 9279760; 8401576; 15148591; 1303258; 8929944; 18136715; 11857550; 26916325; 8401593; 7881431; 7920659
DDG2P v3.11 KRT74 Achchuthan Shanmugasundram Source Expert Review Green was added to KRT74.
Mode of pathogenicity for gene KRT74 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene KRAS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KPTN Achchuthan Shanmugasundram Source Expert Review Green was added to KPTN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KPNA7 Achchuthan Shanmugasundram Mode of inheritance for gene KPNA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene KPNA7 was changed from to Other
DDG2P v3.11 KMT2E Achchuthan Shanmugasundram Publications for gene: KMT2E were updated from 31079897 to 31079897; 34321323
DDG2P v3.11 KMT2D Achchuthan Shanmugasundram Publications for gene: KMT2D were updated from to 29283410; 27573763; 31935506; 28404210; 31949313; 29482518; 25944076; 24739679; 32083401; 27302555; 25142838; 30569626; 27530205; 25972376; 35060672; 20711175; 21607748; 29914387; 28295206; 21671394
DDG2P v3.11 KMT2C Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Publications for gene: KMT2B were updated from 27992417; 27839873 to 27839873; 27992417
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KMT2A Achchuthan Shanmugasundram Publications for gene: KMT2A were updated from to 24818805; 30841869; 22795537; 25929198; 32311999; 24886118; 27759909; 28815892; 25810209; 29203834; 27777327; 31044088; 31168168; 31250358; 30549396; 27320412
DDG2P v3.11 KLHL7 Achchuthan Shanmugasundram Source Expert Review Green was added to KLHL7.
Publications for gene: KLHL7 were updated from 27392078 to 29074562; 27392078
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KLF8 Achchuthan Shanmugasundram Mode of inheritance for gene KLF8 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 v3.11 KLF7 Achchuthan Shanmugasundram gene: KLF7 was added
gene: KLF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF7 were set to 29251763
Phenotypes for gene: KLF7 were set to KLF7-related developmental disorder
Mode of pathogenicity for gene: KLF7 was set to Other
DDG2P v3.11 KLF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KLF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KITLG Achchuthan Shanmugasundram Mode of pathogenicity for gene KITLG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KIRREL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene KIRREL3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KIF5C Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5C.
Mode of pathogenicity for gene KIF5C was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to KIF5B-related disease
Mode of pathogenicity for gene: KIF5B was set to Other
DDG2P v3.11 KIF5A Achchuthan Shanmugasundram gene: KIF5A was added
gene: KIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to 27463701; 27414745
Phenotypes for gene: KIF5A were set to KIF5A-associated severe neonatal myoclonus, OMIM:617235
DDG2P v3.11 KIF3B Achchuthan Shanmugasundram gene: KIF3B was added
gene: KIF3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to KIF3B-related ciliopathy
Mode of pathogenicity for gene: KIF3B was set to Other
DDG2P v3.11 KIF2A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF2A.
Mode of pathogenicity for gene KIF2A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF22 Achchuthan Shanmugasundram Mode of pathogenicity for gene KIF22 was changed from Other - please provide details in the comments to Other
Publications for gene: KIF22 were updated from 19277648; 22152678 to 22152678; 19277648
DDG2P v3.11 KIF1A Achchuthan Shanmugasundram Publications for gene: KIF1A were updated from 21820098 to 25253658; 25265257; 26125038; 26486474; 21820098; 30385166; 21376300; 32096284; 26354034
DDG2P v3.11 KIF14 Achchuthan Shanmugasundram Source Expert Review Green was added to KIF14.
Publications for gene: KIF14 were updated from 24128419; 28892560 to 28892560; 24128419
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF11 Achchuthan Shanmugasundram Publications for gene: KIF11 were updated from 15930898; 22284827 to 22284827; 15930898
DDG2P v3.11 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Mode of inheritance for gene KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were updated from 27005418 to 32909676; 28934391; 27005418
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIAA1109 Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA1109.
Mode of pathogenicity for gene KIAA1109 was changed from Other - please provide details in the comments to Other
Publications for gene: KIAA1109 were updated from 25558065 to 29290337; 25558065
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIAA0586 Achchuthan Shanmugasundram Publications for gene: KIAA0586 were updated from 26026149; 26437029 to 26437029; 26026149
DDG2P v3.11 KIAA0391 Achchuthan Shanmugasundram gene: KIAA0391 was added
gene: KIAA0391 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to 34715011
Phenotypes for gene: KIAA0391 were set to PRORP-related mitochondrial disorder
DDG2P v3.11 KDM6B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM5C Achchuthan Shanmugasundram Publications for gene: KDM5C were updated from 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 to 18203167; 15586325; 19826449; 18697827; 21575681; 16538222; 10982473
DDG2P v3.11 KDM5B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM5B.
Publications for gene: KDM5B were updated from 28720891; 30409806; 24307393 to 29276005; 24307393; 30409806; 28135719; 28720891
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM5A Achchuthan Shanmugasundram Mode of pathogenicity for gene KDM5A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KDM4B Achchuthan Shanmugasundram gene: KDM4B was added
gene: KDM4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM4B were set to 33232677
Phenotypes for gene: KDM4B were set to KDM4B-related Developmental Disorder
DDG2P v3.11 KDM3B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM2B Achchuthan Shanmugasundram gene: KDM2B was added
gene: KDM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to KDM2B-related neurodevelopmental disorder
DDG2P v3.11 KDM1A Achchuthan Shanmugasundram Source Expert Review Green was added to KDM1A.
Mode of pathogenicity for gene KDM1A was changed from Other - please provide details in the comments to Other
Publications for gene: KDM1A were updated from 26656649 to 29559475; 26656649
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDELR2 Achchuthan Shanmugasundram gene: KDELR2 was added
gene: KDELR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to KDELR2-related Osteogenesis Imperfecta
DDG2P v3.11 KCTD7 Achchuthan Shanmugasundram Publications for gene: KCTD7 were updated from 17455289; 22693283; 22748208 to 22693283; 17455289; 22748208
DDG2P v3.11 KCTD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCTD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNQ5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNQ5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNQ3 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNQ3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNQ2 Achchuthan Shanmugasundram Publications for gene: KCNQ2 were updated from 22275249; 12742592 to 25880994; 28832002; 27602407; 15249611; 28687180; 22926866; 25566516; 17872363; 27861786; 28728838; 25092550; 9430594; 23774309; 30107960; 11175290; 24107868; 11572947; 31199083; 28631195; 10323247; 23692823; 23621294; 31152295; 29687029; 31951342; 9425895; 16235065; 24371303; 22169383; 31418850; 30530441; 22275249; 12742592
DDG2P v3.11 KCNN3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNN3.
Mode of pathogenicity for gene KCNN3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNMA1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNMA1.
Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNMA1 were updated from 15937479 to 34224328; 31152168; 15937479; 27567911; 33178487; 29545233; 32132200; 29330545
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 KCNK9 Achchuthan Shanmugasundram Mode of inheritance for gene KCNK9 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mode of pathogenicity for gene KCNK9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNK4 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK4.
Mode of pathogenicity for gene KCNK4 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNK3 Achchuthan Shanmugasundram gene: KCNK3 was added
gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK3 were set to 33057194
Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: KCNK3 was set to Other
DDG2P v3.11 KCNJ8 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ8.
Mode of pathogenicity for gene KCNJ8 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 24700710; 24176758; 25275207
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNJ6 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6.
Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNJ11 Achchuthan Shanmugasundram Publications for gene: KCNJ11 were updated from 8923010 to 8923010; 9356020
DDG2P v3.11 KCNJ10 Achchuthan Shanmugasundram Publications for gene: KCNJ10 were updated from 20651251; 19289823; 19420365; 21849804 to 19420365; 19289823; 20651251; 21849804
DDG2P v3.11 KCNH5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5.
Publications for gene: KCNH5 were updated from 23647072 to 36307226; 23647072
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 KCNH1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH1.
Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNE1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNE1.
Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNE1 were updated from to 30461122
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCND3 Achchuthan Shanmugasundram gene: KCND3 was added
gene: KCND3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCND3 were set to KCND3-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: KCND3 was set to Other
DDG2P v3.11 KCNC3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3.
Mode of pathogenicity for gene KCNC3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNB1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNA4 were updated from to 27582084
DDG2P v3.11 KCNA1 Achchuthan Shanmugasundram gene: KCNA1 was added
gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945
Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic
Mode of pathogenicity for gene: KCNA1 was set to Other
DDG2P v3.11 KBTBD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene KBTBD13 was changed from Other - please provide details in the comments to Other
Publications for gene: KBTBD13 were updated from 21104864; 21109227; 12805120 to 21109227; 21104864; 12805120
DDG2P v3.11 KATNB1 Achchuthan Shanmugasundram gene: KATNB1 was added
gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379
Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
DDG2P v3.11 KAT6B Achchuthan Shanmugasundram Publications for gene: KAT6B were updated from 12210330; 12949978; 16761293; 12210329; 22265014 to 31871732; 12949978; 27696664; 22077973; 28696035; 24458743; 30353918; 26370006; 26334766; 25424711; 12210330; 29226580; 28758091; 16761293; 28232779; 30569622; 22265017; 30900427; 28426343; 23436491; 12210329; 22265014
DDG2P v3.11 KAT6A Achchuthan Shanmugasundram Publications for gene: KAT6A were updated from 25728775; 30245513 to 29899504; 25728777; 30775047; 27133397; 30245513; 25728775; 35892268; 32041641; 31754438
DDG2P v3.11 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome
Mode of pathogenicity for gene: KAT5 was set to Other
DDG2P v3.11 KARS Achchuthan Shanmugasundram Publications for gene: KARS were updated from 23768514 to 20920668; 23768514
DDG2P v3.11 KANSL1 Achchuthan Shanmugasundram Publications for gene: KANSL1 were updated from 22544367; 22544363 to 22544363; 22544367
DDG2P v3.11 KANK1 Achchuthan Shanmugasundram Mode of inheritance for gene KANK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 JMJD1C Achchuthan Shanmugasundram gene: JMJD1C was added
gene: JMJD1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JMJD1C were set to 26181491; 31954878
Phenotypes for gene: JMJD1C were set to JMJD1C-related neurodevelopmental disorder
DDG2P v3.11 JARID2 Achchuthan Shanmugasundram gene: JARID2 was added
gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JARID2 were set to 33077894; 35533077
Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder
DDG2P v3.11 JAM3 Achchuthan Shanmugasundram Source Expert Review Green was added to JAM3.
Publications for gene: JAM3 were updated from 21109224; 23255084 to 23255084; 21109224
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 JAK3 Achchuthan Shanmugasundram Publications for gene: JAK3 were updated from 10982185; 7659163; 11741532; 7481768 to 7659163; 10982185; 7481768; 11741532
DDG2P v3.11 JAG2 Achchuthan Shanmugasundram gene: JAG2 was added
gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy
DDG2P v3.11 JAG1 Achchuthan Shanmugasundram Publications for gene: JAG1 were updated from to 35761784
DDG2P v3.11 IVD Achchuthan Shanmugasundram Publications for gene: IVD were updated from 2063866; 15486829; 10677295; 1310317 to 15486829; 1310317; 10677295; 2063866
DDG2P v3.11 ITPR1 Achchuthan Shanmugasundram Publications for gene: ITPR1 were updated from 27108798; 27108797 to 27062503; 22986007; 27108797; 27108798
DDG2P v3.11 ITGA8 Achchuthan Shanmugasundram Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ITCH Achchuthan Shanmugasundram Source Expert Review Green was added to ITCH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ISPD Achchuthan Shanmugasundram Publications for gene: ISPD were updated from 23217329; 22522420; 22522421; 7604843; 9492098 to 22522420; 7604843; 22522421; 9492098; 23217329
DDG2P v3.11 IRX5 Achchuthan Shanmugasundram Source Expert Review Green was added to IRX5.
Mode of pathogenicity for gene IRX5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IRF6 Achchuthan Shanmugasundram Publications for gene: IRF6 were updated from 12219090; 20803643 to 12920575; 19842205; 12219090; 20803643; 18478600; 14618417; 14757865
DDG2P v3.11 IRF2BPL Achchuthan Shanmugasundram Source Expert Review Green was added to IRF2BPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IREB2 Achchuthan Shanmugasundram gene: IREB2 was added
gene: IREB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 35602653; 31243445; 30915432
Phenotypes for gene: IREB2 were set to IREB2-related neurodevelopmental disorder
DDG2P v3.11 IQSEC2 Achchuthan Shanmugasundram Mode of inheritance for gene IQSEC2 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: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632
DDG2P v3.11 IQSEC1 Achchuthan Shanmugasundram gene: IQSEC1 was added
gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature
Mode of pathogenicity for gene: IQSEC1 was set to Other
DDG2P v3.11 IPO8 Achchuthan Shanmugasundram gene: IPO8 was added
gene: IPO8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604; 34010605
Phenotypes for gene: IPO8 were set to IPO8-related syndromic thoracic aortic aneurysm
DDG2P v3.11 INPP5K Achchuthan Shanmugasundram Source Expert Review Green was added to INPP5K.
Mode of pathogenicity for gene INPP5K was changed from Other - please provide details in the comments to Other
Publications for gene: INPP5K were updated from 28190459; 28190456 to 28190459; 28190456; 28940338
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 INPP5E Achchuthan Shanmugasundram Publications for gene: INPP5E were updated from 19668216 to 19668215; 19668216
DDG2P v3.11 IL1RAPL1 Achchuthan Shanmugasundram Publications for gene: IL1RAPL1 were updated from 16470793; 18801879; 10471494; 19012350 to 10471494; 18801879; 16470793; 19012350
DDG2P v3.11 IL11 Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IKBKG Achchuthan Shanmugasundram Publications for gene: IKBKG were updated from 16818673 to 10839543; 11242109; 16228229; 9450877; 11224521; 15356572; 12045264; 14726382; 15577852; 117248; 16818673; 11047757
DDG2P v3.11 IHH Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other
Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389
DDG2P v3.11 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were updated from 11528396; 15290238 to 15290238; 11528396
DDG2P v3.11 IGFBP7 Achchuthan Shanmugasundram Source Expert Review Green was added to IGFBP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IGF1R Achchuthan Shanmugasundram Publications for gene: IGF1R were updated from 14657428 to 15928254; 14657428; 22130793; 17264177
DDG2P v3.11 IGF1 Achchuthan Shanmugasundram Publications for gene: IGF1 were updated from 15769976; 8857020; 14684690 to 15769976; 14684690; 8857020
DDG2P v3.11 IGBP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other
Publications for gene: IGBP1 were updated from to 23871722
DDG2P v3.11 IFT80 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 33748949; 32144365; 33531668
Phenotypes for gene: IFT74 were set to IFT74-associated ciliopathy, OMIM:617119
DDG2P v3.11 IFT43 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other
Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458
DDG2P v3.11 IFITM5 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFITM5 was changed from Other - please provide details in the comments to Other
Publications for gene: IFITM5 were updated from 22863195; 22863190 to 22863190; 22863195
DDG2P v3.11 IFIH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other
Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204
DDG2P v3.11 IDUA Achchuthan Shanmugasundram Publications for gene: IDUA were updated from 8328452; 6821579; 7951228; 8664897; 10735634 to 8328452; 7951228; 10466419; 10735634; 4221470; 6821579; 7550232; 9391892; 8664897
DDG2P v3.11 IDS Achchuthan Shanmugasundram Publications for gene: IDS were updated from 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 to 1550586; 1303211; 1284597; 8364592; 7581397; 1355630; 8940265; 12794697; 1639384
DDG2P v3.11 IARS2 Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135
DDG2P v3.11 IARS Achchuthan Shanmugasundram Source Expert Review Green was added to IARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HYLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HYDIN Achchuthan Shanmugasundram Publications for gene: HYDIN were updated from 14985390; 23022101 to 23022101; 14985390
DDG2P v3.11 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 34906488
Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
DDG2P v3.11 HUWE1 Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other
Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686
DDG2P v3.11 HSPG2 Achchuthan Shanmugasundram Publications for gene: HSPG2 were updated from 11279527 to 11101850; 11941538; 11279527
DDG2P v3.11 HSF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other
Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349
DDG2P v3.11 HSD17B4 Achchuthan Shanmugasundram Publications for gene: HSD17B4 were updated from 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 to 9345094; 10400999; 11992265; 11743515; 9482850; 4061497; 2921319
DDG2P v3.11 HSD17B10 Achchuthan Shanmugasundram Publications for gene: HSD17B10 were updated from 10521307 to 10521307; 12555940; 16148061; 12696021
DDG2P v3.11 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to HS2ST1-related Developmental Disorder
DDG2P v3.11 HRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other
Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636
DDG2P v3.11 HR Achchuthan Shanmugasundram Publications for gene: HR were updated from 9856480; 10469319; 10205263; 12271294; 10051399 to 19897589; 17680008; 9856480; 9758627; 9445480; 10051399; 10777357; 10205263; 10469319; 12271294; 9463324
DDG2P v3.11 HPSE2 Achchuthan Shanmugasundram Publications for gene: HPSE2 were updated from 11446407; 19669792; 20560210; 19839856 to 19839856; 19669792; 11446407; 20560210
DDG2P v3.11 HPS1 Achchuthan Shanmugasundram Publications for gene: HPS1 were updated from 9705234; 8896559; 10971344; 8274781; 9497254 to 9705234; 9497254; 10971344; 8274781; 8896559
DDG2P v3.11 HPRT1 Achchuthan Shanmugasundram Publications for gene: HPRT1 were updated from to 23975452
DDG2P v3.11 HPDL Achchuthan Shanmugasundram gene: HPDL was added
gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease
DDG2P v3.11 HPD Achchuthan Shanmugasundram Source Expert Review Green was added to HPD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other
Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004
DDG2P v3.11 HOXB1 Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1.
Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXA1 Achchuthan Shanmugasundram Publications for gene: HOXA1 were updated from 18412118; 16155570 to 18412118; 16155570
DDG2P v3.11 HNRNPU Achchuthan Shanmugasundram Publications for gene: HNRNPU were updated from 23934111 to 23934111; 35138025
DDG2P v3.11 HNRNPK Achchuthan Shanmugasundram Publications for gene: HNRNPK were updated from 29904177; 30998304 to 30998304; 29904177
DDG2P v3.11 HNRNPH2 Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2.
Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HNRNPH1 Achchuthan Shanmugasundram gene: HNRNPH1 was added
gene: HNRNPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPH1 were set to 29938792; 32335897
Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder
DDG2P v3.11 HNRNPD Achchuthan Shanmugasundram gene: HNRNPD was added
gene: HNRNPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPD were set to 33057194
Phenotypes for gene: HNRNPD were set to HNRNPD-related developmental disorder (monoallelic)
DDG2P v3.11 HNRNPA2B1 Achchuthan Shanmugasundram gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA2B1 were set to 35484142
Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy
DDG2P v3.11 HNF4A Achchuthan Shanmugasundram Publications for gene: HNF4A were updated from 24285859 to 8945471; 24285859
DDG2P v3.11 HNF1B Achchuthan Shanmugasundram Publications for gene: HNF1B were updated from 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 to 11085914; 9398836; 12675839; 17440011; 15181075; 10484768; 10720943; 15068978; 11562418; 11317673
DDG2P v3.11 HMX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HMX1.
Publications for gene: HMX1 were updated from 18423520 to 18423520; 25574057; 29140751
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HMGCS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other
Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731
DDG2P v3.11 HMGCL Achchuthan Shanmugasundram Publications for gene: HMGCL were updated from 9463337; 8617516; 11129331 to 11129331; 9463337; 8617516
DDG2P v3.11 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HMGB1 were set to 36755093; 34164801
Phenotypes for gene: HMGB1 were set to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome; HMGB1-related intellectual disability
DDG2P v3.11 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HK1 were set to HK1-related developmental disorder (monoallelic)
DDG2P v3.11 HIVEP2 Achchuthan Shanmugasundram Publications for gene: HIVEP2 were updated from 26153216; 27003583 to 27003583; 26153216
DDG2P v3.11 HIST3H3 Achchuthan Shanmugasundram Mode of pathogenicity for gene HIST3H3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HIST1H4J Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J.
Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H4C Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C.
Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other
Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H2AC Achchuthan Shanmugasundram gene: HIST1H2AC was added
gene: HIST1H2AC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIST1H2AC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H2AC were set to HIST1H2AC-related developmental disorder (monoallelic)
DDG2P v3.11 HIST1H1E Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H1E.
Publications for gene: HIST1H1E were updated from 28475857 to 28475857; 31400068
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIRA Achchuthan Shanmugasundram gene: HIRA was added
gene: HIRA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013
Phenotypes for gene: HIRA were set to HIRA-related neurodevelopmental disorder
DDG2P v3.11 HGSNAT Achchuthan Shanmugasundram Publications for gene: HGSNAT were updated from 18024218; 18518886; 16960811; 20825431; 17033958 to 18518886; 16960811; 20825431; 17033958; 18024218
DDG2P v3.11 HEXB Achchuthan Shanmugasundram Publications for gene: HEXB were updated from 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 to 9888387; 8045559; 3014997; 571983; 2973515; 18758829; 1531140; 2921040; 7633435; 10724
DDG2P v3.11 HEXA Achchuthan Shanmugasundram Publications for gene: HEXA were updated from 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 to 2140574; 14648242; 9401004; 2848800; 6959123; 1483696; 21937992; 2934978; 1532289; 9272736; 1301190; 8757036; 2522679; 1322637; 2976595; 1384323; 15108204; 1301958; 1827945; 2961848; 1833974; 1837283; 3362213; 9603435; 8490625; 2954459; 1825014; 1302612; 3754980
DDG2P v3.11 HESX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HERC2 Achchuthan Shanmugasundram gene: HERC2 was added
gene: HERC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC2 were set to 32571899; 23243086; 30902390; 23065719
Phenotypes for gene: HERC2 were set to HERC2-related neurodevelopmental disorder, OMIM:615516
DDG2P v3.11 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011
DDG2P v3.11 HECW2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other
Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779
DDG2P v3.11 HDAC8 Achchuthan Shanmugasundram Publications for gene: HDAC8 were updated from 22885700 to 29279609; 25102094; 29991052; 22885700; 29519750; 26671848; 24403048
DDG2P v3.11 HDAC4 Achchuthan Shanmugasundram Publications for gene: HDAC4 were updated from 20691407 to 33537682; 20691407; 30848064
DDG2P v3.11 HCN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HCFC1 Achchuthan Shanmugasundram Publications for gene: HCFC1 were updated from 24011988 to 1870093; 23000143; 24011988
DDG2P v3.11 HAX1 Achchuthan Shanmugasundram Publications for gene: HAX1 were updated from 18337561; 19036076; 18611981; 17187068 to 18611981; 18337561; 19036076; 17187068
DDG2P v3.11 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HACE1 Achchuthan Shanmugasundram Publications for gene: HACE1 were updated from 26424145; 26437029 to 26437029; 26424145
DDG2P v3.11 HACD1 Achchuthan Shanmugasundram gene: HACD1 was added
gene: HACD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 32426512; 33354762; 23933735
Phenotypes for gene: HACD1 were set to HACD1-related congenital myopathy
DDG2P v3.11 HAAO Achchuthan Shanmugasundram gene: HAAO was added
gene: HAAO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 33942433; 28792876
Phenotypes for gene: HAAO were set to NAD deficiency disorder
DDG2P v3.11 H3F3B Achchuthan Shanmugasundram gene: H3F3B was added
gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: H3F3B were set to 33268356
Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder
Mode of pathogenicity for gene: H3F3B was set to Other
DDG2P v3.11 H3F3A Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other
Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356
DDG2P v3.11 GZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GUSB Achchuthan Shanmugasundram Publications for gene: GUSB were updated from 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 to 7633414; 6811712; 12522561; 9490302; 1702266; 7573038; 1833732; 4265197
DDG2P v3.11 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 30790272; 29449720
Phenotypes for gene: GTPBP2 were set to JABERI-ELAHI SYNDROME, OMIM:617988
DDG2P v3.11 GTF2IRD1 Achchuthan Shanmugasundram gene: GTF2IRD1 was added
gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2IRD1 were set to 36308390
Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder
Mode of pathogenicity for gene: GTF2IRD1 was set to Other
DDG2P v3.11 GTF2E2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2.
Mode of pathogenicity for gene GTF2E2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GSPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GSPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 28097321; 27435318
Phenotypes for gene: GRM7 were set to GRM7-related neurodevelopmental disorder
DDG2P v3.11 GRM6 Achchuthan Shanmugasundram Publications for gene: GRM6 were updated from 15781871; 16249515; 17405131 to 16249515; 15781871; 17405131
DDG2P v3.11 GRM1 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2D Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D.
Mode of pathogenicity for gene GRIN2D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2B Achchuthan Shanmugasundram Publications for gene: GRIN2B were updated from 23934111 to 24272827; 31085877; 23934111; 28377535; 23033978; 20890276; 23160955; 27605359; 23718928; 35393335; 30151416
DDG2P v3.11 GRIN2A Achchuthan Shanmugasundram Publications for gene: GRIN2A were updated from 23933818 to 23033978; 35983985; 20890276; 23933818
DDG2P v3.11 GRIN1 Achchuthan Shanmugasundram Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were updated from 23934111; 27164704 to 27164704; 35393335; 34611970; 23934111; 26350515; 28051072
DDG2P v3.11 GRIK2 Achchuthan Shanmugasundram Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIK2 were updated from 17847003 to 17847003; 34375587
DDG2P v3.11 GRID2 Achchuthan Shanmugasundram gene: GRID2 was added
gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174
Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic
DDG2P v3.11 GRIA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GRIA2 Achchuthan Shanmugasundram gene: GRIA2 was added
gene: GRIA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIA2 were set to GRIA2-related developmental disorder (monoallelic)
DDG2P v3.11 GRIA1 Achchuthan Shanmugasundram gene: GRIA1 was added
gene: GRIA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIA1 were set to 23033978; 35675825
Phenotypes for gene: GRIA1 were set to GRIA1-related neurodevelopmental disorder
DDG2P v3.11 GRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2.
Mode of pathogenicity for gene GRHL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GREB1L Achchuthan Shanmugasundram gene: GREB1L was added
gene: GREB1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186; 32378186; 32598191; 29220675; 29100090; 31424080; 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM:617805
DDG2P v3.11 GPX4 Achchuthan Shanmugasundram Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPHN Achchuthan Shanmugasundram gene: GPHN was added
gene: GPHN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 11095995; 22040219
Phenotypes for gene: GPHN were set to GPHN-related molybdenum cofactor deficiency, OMIM:615501
DDG2P v3.11 GPC6 Achchuthan Shanmugasundram Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPC3 Achchuthan Shanmugasundram Publications for gene: GPC3 were updated from 16158429; 10814714; 18203194; 8589713; 9950367; 17850639 to 8589713; 18203194; 9950367; 17850639; 16158429; 10814714
DDG2P v3.11 GPAA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GPAA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GOT2.
Mode of pathogenicity for gene GOT2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOLGA2 Achchuthan Shanmugasundram gene: GOLGA2 was added
gene: GOLGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to 26742501; 34424553
Phenotypes for gene: GOLGA2 were set to GOLGA2-related myopathy, seizures and microcephaly
DDG2P v3.11 GNS Achchuthan Shanmugasundram Publications for gene: GNS were updated from 6450420; 17998446; 19650410; 3100754; 12624138 to 19650410; 12624138; 17998446; 6450420; 3100754
DDG2P v3.11 GNPTG Achchuthan Shanmugasundram Publications for gene: GNPTG were updated from 20034096; 19659762; 10712439; 19370764 to 10712439; 20034096; 19659762; 19370764; 34341521
DDG2P v3.11 GNPTAB Achchuthan Shanmugasundram Publications for gene: GNPTAB were updated from 16094673; 15633164; 16116615; 19197337 to 19197337; 16116615; 16465621; 16200072; 16094673; 15633164; 34341521
DDG2P v3.11 GNPAT Achchuthan Shanmugasundram Publications for gene: GNPAT were updated from 21990100; 9843043; 9536089; 1405476 to 9536089; 9843043; 1405476; 21990100
DDG2P v3.11 GNE Achchuthan Shanmugasundram gene: GNE was added
gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088
Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921
Mode of pathogenicity for gene: GNE was set to Other
DDG2P v3.11 GNB5 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNB2 Achchuthan Shanmugasundram gene: GNB2 was added
gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099
Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: GNB2 was set to Other
DDG2P v3.11 GNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other
Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799
DDG2P v3.11 GNAS Achchuthan Shanmugasundram Publications for gene: GNAS were updated from 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 to 1944469; 10487696; 1505964; 11095461; 17299070; 2122458; 15592469; 9328353; 8702665; 11029463; 11073544; 15126527; 8072545; 18182455; 1594625
DDG2P v3.11 GNAQ Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ.
Mode of pathogenicity for gene GNAQ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNAI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GNAI1 Achchuthan Shanmugasundram Publications for gene: GNAI1 were updated from 28135719 to 33473207; 28135719
DDG2P v3.11 GNA14 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA14.
Mode of pathogenicity for gene GNA14 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNA11 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA11.
Mode of pathogenicity for gene GNA11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GMPPA Achchuthan Shanmugasundram Publications for gene: GMPPA were updated from 24035193 to 24035193; 35665995
DDG2P v3.11 GMNN Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN.
Mode of pathogenicity for gene GMNN was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GM2A Achchuthan Shanmugasundram Publications for gene: GM2A were updated from 8900233; 8244332; 10364519; 1915858 to 10364519; 8900233; 1915858; 8244332
DDG2P v3.11 GLUL Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other
Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323
DDG2P v3.11 GLUD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other
Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977
DDG2P v3.11 GLRB Achchuthan Shanmugasundram gene: GLRB was added
gene: GLRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 24030948; 32911248; 23182654; 23184146; 21391991; 23238346; 11929858; 33323420
Phenotypes for gene: GLRB were set to GLRB-related hyperexplexia, biallelic, OMIM:614619; GLRB-related hyperexplexia, monoallelic
DDG2P v3.11 GLRA1 Achchuthan Shanmugasundram gene: GLRA1 was added
gene: GLRA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 24030948; 20631190; 9920650; 32319239; 30109271; 24970905; 28985719; 25036534; 32332682
Phenotypes for gene: GLRA1 were set to GLRA1-related hyperexplexia, biallelic, OMIM:149400; GLRA1-related hyperexplexia, monoallelic, OMIM:149400
DDG2P v3.11 GLMN Achchuthan Shanmugasundram Publications for gene: GLMN were updated from 11175297; 11845407 to 11845407; 11175297
DDG2P v3.11 GLIS2 Achchuthan Shanmugasundram Source Expert Review Green was added to GLIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLI3 Achchuthan Shanmugasundram Publications for gene: GLI3 were updated from 10945658; 9054938; 10441570 to 10945658; 9054938; 10441570
DDG2P v3.11 GLE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GLDN Achchuthan Shanmugasundram Source Expert Review Green was added to GLDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLDC Achchuthan Shanmugasundram Publications for gene: GLDC were updated from 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735 to 10873393; 15864413; 15851735; 15824356; 1634607; 9621520; 10798358; 11592811; 15236413; 9600239; 445864; 8005589
DDG2P v3.11 GLB1 Achchuthan Shanmugasundram Publications for gene: GLB1 were updated from 1907800; 1909089; 8198123 to 1907800; 12644936; 1606711; 10841810; 1928092; 7586649; 1909089; 8199591; 8213816; 10737981; 8198123; 11511921
DDG2P v3.11 GJC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other
Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806
DDG2P v3.11 GJA8 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744
DDG2P v3.11 GJA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266
DDG2P v3.11 GJA1 Achchuthan Shanmugasundram Publications for gene: GJA1 were updated from 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 to 15108203; 2157843; 16816024; 14974090; 4209752; 2309863; 12457340; 15551259; 7815444; 21670345; 16709485; 17256797; 14981729; 11470490
DDG2P v3.11 GIGYF1 Achchuthan Shanmugasundram gene: GIGYF1 was added
gene: GIGYF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GIGYF1 were set to 33057194
Phenotypes for gene: GIGYF1 were set to GIGYF1-related developmental disorder (monoallelic)
DDG2P v3.11 GHR Achchuthan Shanmugasundram Publications for gene: GHR were updated from 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 to 9851797; 11468686; 9467570; 12679461; 15536163; 2779634; 9661642; 8488849; 2813379; 8626815; 15001620; 9360529; 17405847; 2233903
DDG2P v3.11 GFAP Achchuthan Shanmugasundram Mode of pathogenicity for gene GFAP was changed from Other - please provide details in the comments to Other
Publications for gene: GFAP were updated from 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 to 11138011; 11567214; 12447932; 12975300; 14557587; 12034796
DDG2P v3.11 GEMIN5 Achchuthan Shanmugasundram gene: GEMIN5 was added
gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
DDG2P v3.11 GEMIN4 Achchuthan Shanmugasundram gene: GEMIN4 was added
gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Mode of pathogenicity for gene: GEMIN4 was set to Other
DDG2P v3.11 GDI1 Achchuthan Shanmugasundram Source Expert Review Red was added to GDI1.
Publications for gene: GDI1 were updated from to 22002931; 21736009; 9620768; 28863211
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 GDF6 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173
DDG2P v3.11 GDF5 Achchuthan Shanmugasundram Publications for gene: GDF5 were updated from 2703235 to 16222676; 11857750; 12124730; 16532400; 11846737; 16127465; 2703235; 12121354; 16892395; 12900894; 18283415; 9288098; 10080184; 18629880
DDG2P v3.11 GDF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF3 were updated from to 19864492; 29260090
DDG2P v3.11 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122
DDG2P v3.11 GDF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF1.
Mode of inheritance for gene GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF1 were updated from to 32144877; 17924340; 20413652; 28991257; 33131162
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCSH Achchuthan Shanmugasundram Source Expert Review Green was added to GCSH.
Publications for gene: GCSH were updated from to 36190515
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other
Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649
DDG2P v3.11 GCDH Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other
Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227
DDG2P v3.11 GBE1 Achchuthan Shanmugasundram gene: GBE1 was added
gene: GBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 33897756; 32455116; 27546458; 30345254; 31747834; 32374048; 33782433; 30228975; 30311141; 30303820
Phenotypes for gene: GBE1 were set to GBE1-associated Glycogen storage disease IV, OMIM:232500
DDG2P v3.11 GATAD2B Achchuthan Shanmugasundram Publications for gene: GATAD2B were updated from 23644463 to 23644463; 31949314
DDG2P v3.11 GATA6 Achchuthan Shanmugasundram Publications for gene: GATA6 were updated from 20631719 to 20631719; 20581743; 8071961; 22158542
DDG2P v3.11 GATA4 Achchuthan Shanmugasundram Publications for gene: GATA4 were updated from 17643447; 20659440; 12845333; 15810002; 20347099; 18055909 to 17643447; 18055909; 20659440; 12845333; 15810002; 20347099
DDG2P v3.11 GATA3 Achchuthan Shanmugasundram gene: GATA3 was added
gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062
Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
DDG2P v3.11 GATA2 Achchuthan Shanmugasundram Publications for gene: GATA2 were updated from 21892158; 20803646 to 21670465; 2543925; 21892158; 24227816; 22996659; 20803646; 21242295
DDG2P v3.11 GAS2L2 Achchuthan Shanmugasundram Source Expert Review Green was added to GAS2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GAN Achchuthan Shanmugasundram gene: GAN was added
gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362
Phenotypes for gene: GAN were set to Giant axonal neuropathy 1
DDG2P v3.11 GAMT Achchuthan Shanmugasundram Publications for gene: GAMT were updated from 17101918; 15651030; 8651275 to 8651275; 15651030; 17101918
DDG2P v3.11 GALT Achchuthan Shanmugasundram Publications for gene: GALT were updated from 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 to 9012409; 1610789; 2233247; 1897530; 10439960; 2011574; 8869397; 9222760
DDG2P v3.11 GALK1 Achchuthan Shanmugasundram Publications for gene: GALK1 were updated from 10790206; 7670469; 11231902; 10521295 to 10521295; 11231902; 10790206; 7670469
DDG2P v3.11 GALE Achchuthan Shanmugasundram Publications for gene: GALE were updated from 9538513; 9326324; 9973283 to 9326324; 9538513; 9973283
DDG2P v3.11 GALC Achchuthan Shanmugasundram Publications for gene: GALC were updated from 21070211; 8786069; 20886637; 8297359 to 8297359; 20886637; 8786069; 21070211
DDG2P v3.11 GAD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GABRG2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRG1 Achchuthan Shanmugasundram gene: GABRG1 was added
gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRG1 were set to 36121006
Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy
Mode of pathogenicity for gene: GABRG1 was set to Other
DDG2P v3.11 GABRB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other
Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111
DDG2P v3.11 GABRB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2.
Mode of pathogenicity for gene GABRB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRA1.
Publications for gene: GABRA1 were updated from 23934111 to 11992121; 23934111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABBR2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2.
Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other
Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GABBR1 Achchuthan Shanmugasundram gene: GABBR1 was added
gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder
Mode of pathogenicity for gene: GABBR1 was set to Other
DDG2P v3.11 GAA Achchuthan Shanmugasundram Publications for gene: GAA were updated from 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697 to 9529346; 7881425; 15668445; 7945303; 7881422; 3865697; 1652892; 17616415; 1898413; 8834250
DDG2P v3.11 FZR1 Achchuthan Shanmugasundram gene: FZR1 was added
gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FZR1 were set to 31318984; 34788397
Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy
Mode of pathogenicity for gene: FZR1 was set to Other
DDG2P v3.11 FZD5 Achchuthan Shanmugasundram Source Expert Review Green was added to FZD5.
Mode of pathogenicity for gene FZD5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FXR1 Achchuthan Shanmugasundram gene: FXR1 was added
gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 35393337; 30770808
Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy
DDG2P v3.11 FUT8 Achchuthan Shanmugasundram Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUK Achchuthan Shanmugasundram Source Expert Review Green was added to FUK.
Mode of pathogenicity for gene FUK was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUCA1 Achchuthan Shanmugasundram Publications for gene: FUCA1 were updated from 1281988; 8401503; 2012122; 9762612; 2642067; 8097260 to 9762612; 2642067; 8401503; 2012122; 8097260; 1281988
DDG2P v3.11 FTSJ1 Achchuthan Shanmugasundram Publications for gene: FTSJ1 were updated from 10398246; 8288232; 15162322 to 10398246; 15162322; 8288232
DDG2P v3.11 FTO Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FTL Achchuthan Shanmugasundram Publications for gene: FTL were updated from 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 to 11849230; 9414313; 9414300; 19176363; 7493028; 9226182; 7669675; 12200611; 9292547; 10759702
DDG2P v3.11 FRRS1L Achchuthan Shanmugasundram Source Expert Review Green was added to FRRS1L.
Publications for gene: FRRS1L were updated from 27239025; 27236917 to 27236917; 27239025
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to FRMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMD7 Achchuthan Shanmugasundram Source Expert Review Red was added to FRMD7.
Publications for gene: FRMD7 were updated from 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 to 16240070; 17962394; 18087240; 17013395; 19072571; 21746984; 17397053; 25678693
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 FRMD5 Achchuthan Shanmugasundram gene: FRMD5 was added
gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder
Mode of pathogenicity for gene: FRMD5 was set to Other
DDG2P v3.11 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were updated from 17352387; 11332973 to 11332973; 17352387
DDG2P v3.11 FRAS1 Achchuthan Shanmugasundram Publications for gene: FRAS1 were updated from 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 to 15838507; 12766769; 18671281; 17163535; 18203166; 16894541
DDG2P v3.11 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 35871492; 35821753; 34694367
Phenotypes for gene: FRA10AC1 were set to FRA10AC1-related neurodevelopmental disorder
DDG2P v3.11 FOXRED1 Achchuthan Shanmugasundram Publications for gene: FOXRED1 were updated from 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 to 20818383; 11181577; 17262856; 15824269; 9463323; 19185523; 11349233; 10944442; 12616398; 20858599; 20382551; 15159508; 21203893; 10080174; 16200211; 22499348; 10330338; 9837812; 23553477
DDG2P v3.11 FOXP4 Achchuthan Shanmugasundram gene: FOXP4 was added
gene: FOXP4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to FOXP4-related Developmental Disorder
DDG2P v3.11 FOXP3 Achchuthan Shanmugasundram Publications for gene: FOXP3 were updated from 11137993; 17635943; 11120765; 11137992; 14671208 to 14671208; 17635943; 11137993; 11120765; 11137992
DDG2P v3.11 FOXP2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXP1 Achchuthan Shanmugasundram Publications for gene: FOXP1 were updated from 20950788 to 24214399; 30092897; 20950788; 28735298; 25853299; 29090079; 29330474; 28884888
DDG2P v3.11 FOXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXL2.
Publications for gene: FOXL2 were updated from 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 to 12400065; 12938087; 11175783; 17089161; 12630957; 11468277; 11776388; 12567411; 12529855; 21325395
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
DDG2P v3.11 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia
Mode of pathogenicity for gene: FOXI3 was set to Other
DDG2P v3.11 FOXG1 Achchuthan Shanmugasundram Publications for gene: FOXG1 were updated from 19578037; 21441262; 19564653; 18571142 to 18571142; 21441262; 19564653; 19578037
DDG2P v3.11 FOXE3 Achchuthan Shanmugasundram Publications for gene: FOXE3 were updated from 6801987; 11159941; 3550563 to 29136273; 20361012; 20140963; 6801987; 22204637; 3550563; 11159941; 16826526
DDG2P v3.11 FOXE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FOXC2 Achchuthan Shanmugasundram Publications for gene: FOXC2 were updated from 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474 to 11078474; 18197197; 15523639; 14269895; 11499682; 12114478; 12485195; 10417285; 11371511
DDG2P v3.11 FOXC1 Achchuthan Shanmugasundram Publications for gene: FOXC1 were updated from 11007653; 19793056 to 9792859; 18498376; 9326342; 11170889; 9620769; 17210863; 10713890; 19793056; 11007653
DDG2P v3.11 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Mode of pathogenicity for gene FN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FMN2 Achchuthan Shanmugasundram Source Expert Review Green was added to FMN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FLVCR2 Achchuthan Shanmugasundram Publications for gene: FLVCR2 were updated from 25677735; 20518025; 19635601; 20206334 to 19635601; 20518025; 25677735; 20206334
DDG2P v3.11 FLVCR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FLVCR1 was changed from Other - please provide details in the comments to Other
Publications for gene: FLVCR1 were updated from 21070897; 9409377; 21267618 to 21267618; 21070897; 9409377; 30656474
DDG2P v3.11 FLT4 Achchuthan Shanmugasundram Publications for gene: FLT4 were updated from 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 to 33067626; 10835628; 12960217; 16924388; 19289394; 16965327; 10856194
DDG2P v3.11 FLNB Achchuthan Shanmugasundram Publications for gene: FLNB were updated from 14991055 to 18386804; 18257094; 14991055; 16801345
DDG2P v3.11 FLNA Achchuthan Shanmugasundram Publications for gene: FLNA were updated from 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 to 23934111; 16596676; 8644737; 20301567; 11914408; 16299064; 11532987; 9883725; 28498505; 10982965; 20014127; 23032111; 17632775; 17431908; 23037936; 18854860; 15654694; 14988809; 15940695; 12612583; 8290091
DDG2P v3.11 FLG Achchuthan Shanmugasundram Publications for gene: FLG were updated from 16444271; 17291859 to 17291859; 16444271
DDG2P v3.11 FKTN Achchuthan Shanmugasundram Publications for gene: FKTN were updated from 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207 to 21228398; 17044012; 17878207; 19179078; 17036286; 12601708; 9690476; 10545611; 19342235; 14627679
DDG2P v3.11 FKRP Achchuthan Shanmugasundram Publications for gene: FKRP were updated from 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 to 11053680; 12654965; 15121789; 11592034; 14523375; 17336067; 11741828; 14647208; 14652796; 11071142; 12707439
DDG2P v3.11 FKBP10 Achchuthan Shanmugasundram gene: FKBP10 was added
gene: FKBP10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP10 were set to 20362275; 21567934; 35278031; 20839288
Phenotypes for gene: FKBP10 were set to BRUCK SYNDROME TYPE 1
DDG2P v3.11 FIG4 Achchuthan Shanmugasundram Source Expert Review Green was added to FIG4.
Publications for gene: FIG4 were updated from 2319578; 7496176; 23623387 to 17572665; 23623387; 7496176; 34899148; 30740813; 2319578
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FHL1 Achchuthan Shanmugasundram Publications for gene: FHL1 were updated from 19716112; 18179888; 19687455 to 35607917; 19716112; 19687455; 18179888
DDG2P v3.11 FH Achchuthan Shanmugasundram Publications for gene: FH were updated from to 8200987; 22069215
DDG2P v3.11 FGFR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183
DDG2P v3.11 FGFR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757
DDG2P v3.11 FGFR1 Achchuthan Shanmugasundram Publications for gene: FGFR1 were updated from 23812909 to 11807866; 15523615; 10394936; 7874169; 15625620; 26942290; 10690855; 7719345; 17235395; 8434615; 7422392; 16606836; 8841188; 23643382; 16882753; 17360555; 18596921; 23812909; 9150725; 16418210; 9002682; 12627230; 10945669; 9586546
DDG2P v3.11 FGF9 Achchuthan Shanmugasundram Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FGF3 Achchuthan Shanmugasundram Publications for gene: FGF3 were updated from 18701883; 18435799; 17236138; 21480479 to 18435799; 21480479; 17236138; 18701883
DDG2P v3.11 FGF14 Achchuthan Shanmugasundram gene: FGF14 was added
gene: FGF14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF14 were set to 30607796; 25566820; 21600715
Phenotypes for gene: FGF14 were set to FGF14-related episodic ataxia
DDG2P v3.11 FGF13 Achchuthan Shanmugasundram gene: FGF13 was added
gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous)
Mode of pathogenicity for gene: FGF13 was set to Other
DDG2P v3.11 FGF12 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGF12 was changed from Other - please provide details in the comments to Other
Publications for gene: FGF12 were updated from 27830185; 27164707; 27872899 to 27164707; 27872899; 27830185
DDG2P v3.11 FGD1 Achchuthan Shanmugasundram Publications for gene: FGD1 were updated from 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 to 11093277; 14560308; 16688726; 20082460; 16353258; 7954831; 17152066; 10930571; 11940089; 15809997; 17847065
DDG2P v3.11 FEZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to FEZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FEM1C Achchuthan Shanmugasundram gene: FEM1C was added
gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956
Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder
Mode of pathogenicity for gene: FEM1C was set to Other
DDG2P v3.11 FBXW7 Achchuthan Shanmugasundram gene: FBXW7 was added
gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: FBXW7 was set to Other
DDG2P v3.11 FBXW11 Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11.
Mode of pathogenicity for gene FBXW11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FBXO28 Achchuthan Shanmugasundram gene: FBXO28 was added
gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO28 were set to 30160831; 33280099
Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability
Mode of pathogenicity for gene: FBXO28 was set to Other
DDG2P v3.11 FBXO11 Achchuthan Shanmugasundram Publications for gene: FBXO11 were updated from 27620904; 30057029 to 27620904; 30679813; 30057029
DDG2P v3.11 FBP1 Achchuthan Shanmugasundram Publications for gene: FBP1 were updated from 12126934; 7763253 to 7763253; 12126934
DDG2P v3.11 FBN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other
Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416
DDG2P v3.11 FBN1 Achchuthan Shanmugasundram Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN1 were updated from 8406497 to 1852208; 1631074; 31950671; 17366579; 9241263; 7611299; 1569206; 1301946; 11175294; 9101298; 9837823; 15032979; 17492313; 7762551; 23103230; 23897642; 21594992; 8136837; 7633409; 15287423; 12525539; 8504310; 20979188; 10766875; 16333834; 8281141; 23023332; 11702223; 17568394; 20082464; 27582083; 8101042; 8071963; 7911051; 8040326; 21594993; 10441597; 18412115; 8428751; 8406497; 8430317
DDG2P v3.11 FBLN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FASN Achchuthan Shanmugasundram Mode of pathogenicity for gene FASN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FARS2 Achchuthan Shanmugasundram Publications for gene: FARS2 were updated from 29326872; 28043061; 27095821; 29126765; 27549011 to 29326872; 27549011; 29126765; 28043061; 27095821
DDG2P v3.11 FAR1 Achchuthan Shanmugasundram Publications for gene: FAR1 were updated from to 25439727
DDG2P v3.11 FANCM Achchuthan Shanmugasundram Source Expert Review Green was added to FANCM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCL Achchuthan Shanmugasundram Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCG Achchuthan Shanmugasundram Publications for gene: FANCG were updated from 12552564; 10807541; 15657175; 9806548 to 15657175; 9806548; 12552564; 10807541
DDG2P v3.11 FANCF Achchuthan Shanmugasundram Publications for gene: FANCF were updated from 10615118; 9382107 to 26033879; 10615118; 9382107
DDG2P v3.11 FANCE Achchuthan Shanmugasundram Publications for gene: FANCE were updated from 10205272; 11001585; 9382107 to 10205272; 11001585; 9382107
DDG2P v3.11 FANCB Achchuthan Shanmugasundram Publications for gene: FANCB were updated from to 16679491
DDG2P v3.11 FANCA Achchuthan Shanmugasundram Publications for gene: FANCA were updated from 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 to 12447395; 11344308; 12827451; 10431244; 8896564; 15523645
DDG2P v3.11 FAM58A Achchuthan Shanmugasundram Publications for gene: FAM58A were updated from 18297069; 8818947 to 18297069; 28322501; 8818947
DDG2P v3.11 FAM20C Achchuthan Shanmugasundram Publications for gene: FAM20C were updated from 19250384; 20825432; 17924334 to 20825432; 17924334; 19250384
DDG2P v3.11 FAM161A Achchuthan Shanmugasundram Publications for gene: FAM161A were updated from to 20705278; 26574802; 20705279; 10507729
DDG2P v3.11 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FAM126A Achchuthan Shanmugasundram Publications for gene: FAM126A were updated from 16951682; 17928815 to 17928815; 16951682
DDG2P v3.11 FAM111A Achchuthan Shanmugasundram Mode of pathogenicity for gene FAM111A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FAH Achchuthan Shanmugasundram Publications for gene: FAH were updated from 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 to 7977370; 8829657; 1401056; 8318997; 8364576; 8162054; 11196105; 7757089
DDG2P v3.11 EZH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EYA1 Achchuthan Shanmugasundram Publications for gene: EYA1 were updated from 16441263 to 9361030; 5365063; 16441263; 9020840; 10655545; 19206155
DDG2P v3.11 EXTL3 Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3.
Mode of pathogenicity for gene EXTL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXT2 Achchuthan Shanmugasundram Publications for gene: EXT2 were updated from to 9326317
DDG2P v3.11 EXT1 Achchuthan Shanmugasundram Publications for gene: EXT1 were updated from 8981950; 9326317; 15253765; 7550340 to 9326317; 7550340; 8981950; 15253765
DDG2P v3.11 EXPH5 Achchuthan Shanmugasundram Source Expert Review Green was added to EXPH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC9 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOSC9.
Mode of inheritance for gene EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC3 Achchuthan Shanmugasundram Publications for gene: EXOSC3 were updated from to 34085948
DDG2P v3.11 EXOSC2 Achchuthan Shanmugasundram gene: EXOSC2 was added
gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 36069504; 26843489
Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
DDG2P v3.11 EVC Achchuthan Shanmugasundram Publications for gene: EVC were updated from 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 to 7628126; 21815252; 10700184; 14217223; 12468274; 7218275; 12571802
DDG2P v3.11 ETHE1 Achchuthan Shanmugasundram Publications for gene: ETHE1 were updated from 14732903; 20528888; 18593870 to 18593870; 14732903; 20528888
DDG2P v3.11 ETFA Achchuthan Shanmugasundram Publications for gene: ETFA were updated from 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 to 17412732; 7912128; 1882842; 12815589; 1430199; 19249206
DDG2P v3.11 ESCO2 Achchuthan Shanmugasundram Publications for gene: ESCO2 were updated from 15821733; 495649 to 3740099; 15821733; 495649
DDG2P v3.11 ERLIN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ERLIN2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ERF Achchuthan Shanmugasundram Publications for gene: ERF were updated from 27738187 to 23354439; 35852485; 27738187
DDG2P v3.11 ERCC8 Achchuthan Shanmugasundram Publications for gene: ERCC8 were updated from 7664335; 14661080; 15744458 to 14661080; 15744458; 7664335
DDG2P v3.11 ERCC6 Achchuthan Shanmugasundram Publications for gene: ERCC6 were updated from 7264357 to 20456449; 9443879; 7264357; 10739753; 18628313; 18446857; 10196384
DDG2P v3.11 ERCC5 Achchuthan Shanmugasundram Publications for gene: ERCC5 were updated from 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 to 11228268; 12060391; 7951246; 9096355; 23255472; 11841555; 11219864; 8818951
DDG2P v3.11 ERCC4 Achchuthan Shanmugasundram Publications for gene: ERCC4 were updated from 8797827; 3372781 to 3372781; 23623389; 17183314; 23623386; 8797827
DDG2P v3.11 ERCC3 Achchuthan Shanmugasundram Publications for gene: ERCC3 were updated from 4811796; 16947863; 8408834 to 16947863; 4811796; 8408834
DDG2P v3.11 ERCC2 Achchuthan Shanmugasundram Publications for gene: ERCC2 were updated from 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 to 9012405; 11709541; 15220921; 9101292; 7849702; 7920640; 9195225; 8571952; 11443545; 7585650; 9758621
DDG2P v3.11 ERCC1 Achchuthan Shanmugasundram Publications for gene: ERCC1 were updated from 17273966 to 23623389; 17273966
DDG2P v3.11 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other
Publications for gene: ERBB3 were updated from to 17701904
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPRS Achchuthan Shanmugasundram Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPCAM Achchuthan Shanmugasundram gene: EPCAM was added
gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410
Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217
DDG2P v3.11 EPB41L1 Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EP300 Achchuthan Shanmugasundram Publications for gene: EP300 were updated from 17299436; 20014264; 19353645; 15706485 to 19353645; 17299436; 20014264; 15706485
DDG2P v3.11 ENTPD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ENTPD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ENPP1 Achchuthan Shanmugasundram Publications for gene: ENPP1 were updated from 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 to 20137773; 12881724; 20137772; 15940697; 11159191; 19206175; 22209248; 15605415
DDG2P v3.11 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other
Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EMC10 Achchuthan Shanmugasundram gene: EMC10 was added
gene: EMC10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 33531666
Phenotypes for gene: EMC10 were set to EMC10-related neurodevelopmental disorder
DDG2P v3.11 EMC1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMC1.
Publications for gene: EMC1 were updated from to 29271071; 26942288
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ELP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ELN Achchuthan Shanmugasundram Publications for gene: ELN were updated from 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671 to 10190538; 8132745; 8541862; 21309044; 9215670; 11735026; 10190324; 19844261; 11175284; 23442826; 9215671
DDG2P v3.11 ELMO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ELMO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELFN1 Achchuthan Shanmugasundram gene: ELFN1 was added
gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELFN1 were set to 34509675
Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy
DDG2P v3.11 EIF5A Achchuthan Shanmugasundram gene: EIF5A was added
gene: EIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to EIF5A-related craniofacial-neurodevelopmental disorder
DDG2P v3.11 EIF4A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EIF3F Achchuthan Shanmugasundram Source Expert Review Green was added to EIF3F.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2S3 Achchuthan Shanmugasundram Source Expert Review Green was added to EIF2S3.
Publications for gene: EIF2S3 were updated from 27333055; 23063529 to 23063529; 27333055
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2B5 Achchuthan Shanmugasundram gene: EIF2B5 was added
gene: EIF2B5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 28939701; 25457085; 25230711; 25089094; 25758335; 14572143; 15776425
Phenotypes for gene: EIF2B5 were set to EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2B4 Achchuthan Shanmugasundram gene: EIF2B4 was added
gene: EIF2B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 30073106; 26043506; 25089094; 31385086; 18539998; 14572143
Phenotypes for gene: EIF2B4 were set to EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2AK3 Achchuthan Shanmugasundram Publications for gene: EIF2AK3 were updated from 16813601; 12960215; 10932183; 7551159 to 7551159; 12960215; 16813601; 10932183
DDG2P v3.11 EIF2AK2 Achchuthan Shanmugasundram gene: EIF2AK2 was added
gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mode of pathogenicity for gene: EIF2AK2 was set to Other
DDG2P v3.11 EIF2AK1 Achchuthan Shanmugasundram gene: EIF2AK1 was added
gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome
Mode of pathogenicity for gene: EIF2AK1 was set to Other
DDG2P v3.11 EHMT1 Achchuthan Shanmugasundram Publications for gene: EHMT1 were updated from 19264732; 28498556; 16826528 to 27123477; 23232695; 16826528; 28361100; 19264732; 28498556
DDG2P v3.11 EFTUD2 Achchuthan Shanmugasundram Publications for gene: EFTUD2 were updated from 22541558; 16760738; 19334086; 22305528; 23188108 to 27670155; 23879989; 22541558; 19334086; 28643921; 23188108; 25387991; 25735261; 31413053; 30343593; 16760738; 22305528; 23239648; 26507355; 24470203
DDG2P v3.11 EFNB1 Achchuthan Shanmugasundram Publications for gene: EFNB1 were updated from 16685650; 15166289; 15124102 to 15124102; 15166289; 16685650
DDG2P v3.11 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 29362193; 17937443; 30140196; 19664000; 28673110; 16685658; 22440127; 24276535; 23212998
Phenotypes for gene: EFEMP2 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437
DDG2P v3.11 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EEF2 were set to EEF2-related developmental disorder (monoallelic)
DDG2P v3.11 EEF1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2.
Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other
Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EED Achchuthan Shanmugasundram Source Expert Review Green was added to EED.
Mode of pathogenicity for gene EED was changed from Other - please provide details in the comments to Other
Publications for gene: EED were updated from 28475857; 27193220; 25787343; 27868325 to 27868325; 27193220; 25787343; 28475857
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDNRB Achchuthan Shanmugasundram Publications for gene: EDNRB were updated from 7778600; 11891690 to 7778600; 11891690
DDG2P v3.11 EDNRA Achchuthan Shanmugasundram Mode of pathogenicity for gene EDNRA was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EDN1 Achchuthan Shanmugasundram Source Expert Review Green was added to EDN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDEM3 Achchuthan Shanmugasundram gene: EDEM3 was added
gene: EDEM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDEM3 were set to 34143952
Phenotypes for gene: EDEM3 were set to EDEM3-related congenital disorder of glycosylation, OMIM:619493
DDG2P v3.11 EDAR Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233
DDG2P v3.11 EDA Achchuthan Shanmugasundram Publications for gene: EDA were updated from 18657636; 17256800; 16583127 to 9683615; 17066260; 16583127; 9856856; 19921643; 12949972; 17256800; 19264582; 8696334; 9507389; 18657636
DDG2P v3.11 ECM1 Achchuthan Shanmugasundram gene: ECM1 was added
gene: ECM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to 25529926; 25465029; 28434238
Phenotypes for gene: ECM1 were set to LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100
DDG2P v3.11 ECHS1 Achchuthan Shanmugasundram gene: ECHS1 was added
gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
DDG2P v3.11 EBP Achchuthan Shanmugasundram Publications for gene: EBP were updated from 10942423; 10391218; 10391219; 11038443; 12503101 to 10942423; 10391218; 11038443; 10391219; 12503101
DDG2P v3.11 EBF3 Achchuthan Shanmugasundram Publications for gene: EBF3 were updated from 28017370; 28017372; 28017373 to 28017372; 28017370; 28017373
DDG2P v3.11 DYRK1A Achchuthan Shanmugasundram Publications for gene: DYRK1A were updated from 21294719; 23160955; 23099646 to 25641759; 25707398; 28053047; 21294719; 31263215; 25944381; 23160955; 31803247; 26922654; 25920557; 23099646; 29034068
DDG2P v3.11 DYNC2LI1 Achchuthan Shanmugasundram gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2LI1 were set to 26077881; 33030252; 26130459; 28857138
Phenotypes for gene: DYNC2LI1 were set to DYNC2LI1-related short-rib polydactyly, OMIM:617088
DDG2P v3.11 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DYNC1H1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other
Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677
DDG2P v3.11 DYM Achchuthan Shanmugasundram Publications for gene: DYM were updated from 12554689; 12491225; 16097008 to 16097008; 19005420; 12554689; 12491225
DDG2P v3.11 DVL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DVL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DSTYK Achchuthan Shanmugasundram Mode of inheritance for gene DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.11 DSPP Achchuthan Shanmugasundram Publications for gene: DSPP were updated from 18456718; 11175790; 14758537; 11175779 to 18456718; 11175779; 11175790; 14758537
DDG2P v3.11 DSP Achchuthan Shanmugasundram gene: DSP was added
gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSP were set to 33057194
Phenotypes for gene: DSP were set to DSP-related developmental disorder
Mode of pathogenicity for gene: DSP was set to Other
DDG2P v3.11 DSG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DSG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DSE Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DRC1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DPYSL5 was set to Other
DDG2P v3.11 DPM3 Achchuthan Shanmugasundram Source Expert Review Green was added to DPM3.
Publications for gene: DPM3 were updated from 19576565 to 35932216; 19576565
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPM1 Achchuthan Shanmugasundram Publications for gene: DPM1 were updated from 10642602; 10642597 to 10642597; 10642602
DDG2P v3.11 DPH5 Achchuthan Shanmugasundram gene: DPH5 was added
gene: DPH5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH5 were set to 35482014
Phenotypes for gene: DPH5 were set to DPH5-related neurodevelopmental disorder
DDG2P v3.11 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Mode of pathogenicity for gene DPF2 was changed from Other - please provide details in the comments to Other
Publications for gene: DPF2 were updated from 29429572 to 29429572; 35607970
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOLK Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other
Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964
DDG2P v3.11 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to DOHH-related neurodevelopmental disorder
DDG2P v3.11 DOCK7 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOCK6 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNMT3A Achchuthan Shanmugasundram Publications for gene: DNMT3A were updated from 24614070; 28475857; 29900417 to 24614070; 29900417; 28475857
DDG2P v3.11 DNM1L Achchuthan Shanmugasundram gene: DNM1L was added
gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467
Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DNM1L was set to Other
DDG2P v3.11 DNM1 Achchuthan Shanmugasundram Source Expert Review Green was added to DNM1.
Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJC12 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJB4 Achchuthan Shanmugasundram gene: DNAJB4 was added
gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36264506
Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure
DDG2P v3.11 DNAH9 Achchuthan Shanmugasundram Publications for gene: DNAH9 were updated from 30471717; 30471718 to 30471718; 30471717
DDG2P v3.11 DNAH5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAH14 Achchuthan Shanmugasundram gene: DNAH14 was added
gene: DNAH14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH14 were set to 35438214
Phenotypes for gene: DNAH14 were set to DNAH14-related Neurodevelopmental disorder
DDG2P v3.11 DNAAF5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5.
Mode of pathogenicity for gene DNAAF5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAAF3 Achchuthan Shanmugasundram Publications for gene: DNAAF3 were updated from 10745040; 22387996 to 22387996; 10745040
DDG2P v3.11 DMPK Achchuthan Shanmugasundram Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DMP1 Achchuthan Shanmugasundram Publications for gene: DMP1 were updated from 17033625; 17033621 to 17033621; 17033625
DDG2P v3.11 DMD Achchuthan Shanmugasundram Publications for gene: DMD were updated from 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582 to 15643612; 7581396; 10909857; 7881286; 7981590; 17024373; 8361506; 8279470; 1513469; 1757094; 8199594; 8281150; 8301652; 12673664; 8401539; 12754707; 12632325; 8499922; 1301174; 12794683; 8817332; 1549596; 12522557; 1383546; 8401582; 1601417; 8364587; 2071150; 8789442; 1632439; 9683584; 9410897; 8401537; 7951253; 9170407; 1307253
DDG2P v3.11 DLX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DLL3 Achchuthan Shanmugasundram Publications for gene: DLL3 were updated from 10742114; 2805381; 12791036 to 2805381; 10742114; 12791036
DDG2P v3.11 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic)
DDG2P v3.11 DLG4 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DLD Achchuthan Shanmugasundram Publications for gene: DLD were updated from to 23290025; 8968745
DDG2P v3.11 DISP1 Achchuthan Shanmugasundram gene: DISP1 was added
gene: DISP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DISP1 were set to HOLOPROSENCEPHALY, OMIM:609637
DDG2P v3.11 DIS3L2 Achchuthan Shanmugasundram Publications for gene: DIS3L2 were updated from 22306653; 6093533; 10508986 to 6093533; 10508986; 22306653
DDG2P v3.11 DIP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX37 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX37 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX34 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX34 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Mode of pathogenicity for gene DHX30 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHX16 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHTKD1 Achchuthan Shanmugasundram Source Expert Review Green was added to DHTKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHRS3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHPS Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS.
Mode of pathogenicity for gene DHPS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHFR Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHDDS Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS.
Mode of pathogenicity for gene DHDDS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHCR7 Achchuthan Shanmugasundram Publications for gene: DHCR7 were updated from 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 to 20635399; 15952211; 10677299; 11175299; 16044199; 12949967; 9653161; 12794707; 11857552; 10814720; 26969503; 9634533; 9714007; 9683613
DDG2P v3.11 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were updated from 9851433; 14510823; 23542701; 15329069; 10825362; 10577924 to 10577924; 14510823; 23542701; 9851433; 15329069; 10825362
DDG2P v3.11 DENND5A Achchuthan Shanmugasundram Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DEGS1 Achchuthan Shanmugasundram Publications for gene: DEGS1 were updated from 31186544; 30620337 to 30620337; 31186544
DDG2P v3.11 DEAF1 Achchuthan Shanmugasundram Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407
DDG2P v3.11 DDX6 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6.
Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX59 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59.
Mode of pathogenicity for gene DDX59 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX58 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX54 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were updated from 25533962 to 30734472; 25533962; 28371085; 30349862; 29490693; 26235985
DDG2P v3.11 DDX23 Achchuthan Shanmugasundram gene: DDX23 was added
gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX23 were set to 33057194
Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DDX23 was set to Other
DDG2P v3.11 DDX11 Achchuthan Shanmugasundram Publications for gene: DDX11 were updated from 23033317; 20137776 to 23033317; 20137776
DDG2P v3.11 DDR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDHD1 Achchuthan Shanmugasundram Publications for gene: DDHD1 were updated from 15786464; 23176821 to 23176821; 15786464
DDG2P v3.11 DDB2 Achchuthan Shanmugasundram Publications for gene: DDB2 were updated from 10469312; 12812979; 8798680 to 10469312; 8798680; 12812979
DDG2P v3.11 DDB1 Achchuthan Shanmugasundram gene: DDB1 was added
gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDB1 were set to 33743206
Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: DDB1 was set to Other
DDG2P v3.11 DCX Achchuthan Shanmugasundram Publications for gene: DCX were updated from 11468322; 12552055; 10441340; 9489699; 9489700 to 10441340; 9489700; 9489699; 12552055; 11468322
DDG2P v3.11 DCDC2 Achchuthan Shanmugasundram Source Expert Review Green was added to DCDC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DCC Achchuthan Shanmugasundram Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to DAW1-associated ciliopathy
DDG2P v3.11 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DAG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DAG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DACT1 Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene DACT1 was changed from to Other
Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444
DDG2P v3.11 CYP27A1 Achchuthan Shanmugasundram Source Expert Review Green was added to CYP27A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CYP1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other
Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064
DDG2P v3.11 CYFIP2 Achchuthan Shanmugasundram gene: CYFIP2 was added
gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327
Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Mode of pathogenicity for gene: CYFIP2 was set to Other
DDG2P v3.11 CYC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CYB5R3 Achchuthan Shanmugasundram Source Expert Review Green was added to CYB5R3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were updated from 28285769 to 36718996; 28285769
DDG2P v3.11 CUX2 Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2.
Mode of pathogenicity for gene CUX2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CUX1 Achchuthan Shanmugasundram gene: CUX1 was added
gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX1 were set to 30014507
Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
DDG2P v3.11 CUL7 Achchuthan Shanmugasundram Publications for gene: CUL7 were updated from 17675530; 16142236; 19225462 to 19225462; 17675530; 16142236
DDG2P v3.11 CUL3 Achchuthan Shanmugasundram Source Expert Review Green was added to CUL3.
Mode of inheritance for gene CUL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUL3 were updated from 27824329 to 31696658; 32341456; 27824329; 33097317
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTU2 Achchuthan Shanmugasundram gene: CTU2 was added
gene: CTU2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 31301155
Phenotypes for gene: CTU2 were set to MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142
DDG2P v3.11 CTSK Achchuthan Shanmugasundram Publications for gene: CTSK were updated from 10878663; 8703060; 10491211 to 10491211; 10878663; 8703060
DDG2P v3.11 CTSD Achchuthan Shanmugasundram Publications for gene: CTSD were updated from 16670177; 16685649 to 16685649; 16670177
DDG2P v3.11 CTSA Achchuthan Shanmugasundram Publications for gene: CTSA were updated from 8968752; 10944848; 8514852; 9603439; 1756715 to 8968752; 9603439; 1756715; 10944848; 8514852
DDG2P v3.11 CTNS Achchuthan Shanmugasundram Publications for gene: CTNS were updated from 19863563; 10556299; 10444339 to 10673275; 10625078; 12442267; 9792862; 11505338; 10556299; 9537412; 11565547; 10444339; 19863563
DDG2P v3.11 CTNND2 Achchuthan Shanmugasundram gene: CTNND2 was added
gene: CTNND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND2 were set to 25807484; 25839933
Phenotypes for gene: CTNND2 were set to CTNND2-related neurodevelopmental disorder
DDG2P v3.11 CTNND1 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNND1.
Publications for gene: CTNND1 were updated from 100000; 29348693; 28301459 to 100000; 32196547; 29348693; 28301459
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTNNB1 Achchuthan Shanmugasundram Publications for gene: CTNNB1 were updated from to 35880249; 30929091; 28514307; 24614104; 27915094; 26968164; 25326669
DDG2P v3.11 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTBP1 Achchuthan Shanmugasundram gene: CTBP1 was added
gene: CTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTBP1 were set to CTBP1-related developmental disorder (monoallelic)
DDG2P v3.11 CSTB Achchuthan Shanmugasundram Publications for gene: CSTB were updated from 9012407; 15329070; 9342192; 8596935 to 9012407; 8596935; 9342192; 15329070
DDG2P v3.11 CSTA Achchuthan Shanmugasundram Source Expert Review Green was added to CSTA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CSNK2B Achchuthan Shanmugasundram gene: CSNK2B was added
gene: CSNK2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2B were set to CSNK2B-related developmental disorder (monoallelic)
DDG2P v3.11 CSNK2A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK2A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSNK1G1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSF1R Achchuthan Shanmugasundram Publications for gene: CSF1R were updated from 30982608; 30982609 to 30982608; 30982609
DDG2P v3.11 CSDE1 Achchuthan Shanmugasundram gene: CSDE1 was added
gene: CSDE1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSDE1 were set to 33867523; 31579823
Phenotypes for gene: CSDE1 were set to CSDE1-associated intellectual disability and autism
DDG2P v3.11 CRYGD Achchuthan Shanmugasundram Source Expert Review Red was added to CRYGD.
Publications for gene: CRYGD were updated from 9927684 to 9927684; 17564961; 12011157; 10915766; 10521291
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYGC Achchuthan Shanmugasundram Publications for gene: CRYGC were updated from 12011157; 10521291; 10914683 to 10521291; 10914683; 12011157
DDG2P v3.11 CRYBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRYBB2 Achchuthan Shanmugasundram Publications for gene: CRYBB2 were updated from 11424921; 8812489 to 8812489; 11424921
DDG2P v3.11 CRYBB1 Achchuthan Shanmugasundram Mode of inheritance for gene CRYBB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were updated from 12360425; 17460281 to 17460281; 12360425
DDG2P v3.11 CRYBA4 Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4.
Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other
Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYAB Achchuthan Shanmugasundram Publications for gene: CRYAB were updated from 21337604 to 11577372; 21337604
DDG2P v3.11 CRYAA Achchuthan Shanmugasundram Publications for gene: CRYAA were updated from 19182255 to 11006246; 19182255
DDG2P v3.11 CRX Achchuthan Shanmugasundram Publications for gene: CRX were updated from to 9792858; 9390563; 15531334; 17320181; 25270190; 9537410; 9427255; 9931337; 12208271
DDG2P v3.11 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder
Mode of pathogenicity for gene: CRLS1 was set to Other
DDG2P v3.11 CRKL Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRELD1 Achchuthan Shanmugasundram Source Expert Review Green was added to CRELD1.
Mode of pathogenicity for gene CRELD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CREBBP Achchuthan Shanmugasundram Publications for gene: CREBBP were updated from 27311832 to 12114483; 12566391; 30737887; 20684013; 29460469; 27311832; 7630403; 11331617
DDG2P v3.11 CRB1 Achchuthan Shanmugasundram Publications for gene: CRB1 were updated from 11389483; 16543197; 11231775 to 16543197; 19140180; 11231775; 11389483; 10508521
DDG2P v3.11 CRADD Achchuthan Shanmugasundram Source Expert Review Red was added to CRADD.
Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other
Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CPSF3 Achchuthan Shanmugasundram gene: CPSF3 was added
gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly
Mode of pathogenicity for gene: CPSF3 was set to Other
DDG2P v3.11 CPS1 Achchuthan Shanmugasundram Publications for gene: CPS1 were updated from 8486760; 11474210; 9711878; 17310273; 19793055 to 9711878; 19793055; 11474210; 8486760; 17310273
DDG2P v3.11 CPAMD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CPAMD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COX7B Achchuthan Shanmugasundram Publications for gene: COX7B were updated from 23122588; 9747372 to 9747372; 23122588
DDG2P v3.11 COX16 Achchuthan Shanmugasundram gene: COX16 was added
gene: COX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to COX16-related Developmental Disorder
DDG2P v3.11 COX10 Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other
Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889
DDG2P v3.11 COQ5 Achchuthan Shanmugasundram Mode of pathogenicity for gene COQ5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COQ4 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to COPB2-associated developmental delay and microcephaly, OMIM:617800; COPB2-related developmental delay and osteopenia
DDG2P v3.11 COPB1 Achchuthan Shanmugasundram gene: COPB1 was added
gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
Mode of pathogenicity for gene: COPB1 was set to Other
DDG2P v3.11 COMP Achchuthan Shanmugasundram Source Expert Review Red was added to COMP.
Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other
Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 COLEC11 Achchuthan Shanmugasundram Publications for gene: COLEC11 were updated from 8933348; 21258343; 2569826 to 2569826; 21258343; 8933348
DDG2P v3.11 COLEC10 Achchuthan Shanmugasundram Source Expert Review Green was added to COLEC10.
Publications for gene: COLEC10 were updated from 28301481 to 28301481; 35943032
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL9A3 Achchuthan Shanmugasundram Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A3 were updated from 24273071 to 15551337; 30450842; 10655510; 24273071; 10090888; 31090205
DDG2P v3.11 COL9A2 Achchuthan Shanmugasundram Publications for gene: COL9A2 were updated from 10364514; 8528240; 12244547 to 8528240; 21671392; 10364514; 31090205; 12244547
DDG2P v3.11 COL9A1 Achchuthan Shanmugasundram Publications for gene: COL9A1 were updated from 11565064 to 16909383; 11565064
DDG2P v3.11 COL6A2 Achchuthan Shanmugasundram gene: COL6A2 was added
gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063
Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
DDG2P v3.11 COL6A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A4 Achchuthan Shanmugasundram Publications for gene: COL4A4 were updated from to 7987396; 9269635
DDG2P v3.11 COL4A3BP Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A3 Achchuthan Shanmugasundram Publications for gene: COL4A3 were updated from 11134255; 9269635 to 9792860; 7633417; 7987301; 11134255; 9269635; 7987396
DDG2P v3.11 COL4A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL2A1 Achchuthan Shanmugasundram Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962
DDG2P v3.11 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 28322503; 28276056; 31903681; 24986830
Phenotypes for gene: COL27A1 were set to Steel Syndrome
DDG2P v3.11 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653
DDG2P v3.11 COL18A1 Achchuthan Shanmugasundram Publications for gene: COL18A1 were updated from 10942434; 30007336; 19160445; 18484314; 12415512; 19160445; 28602933; 28950998 to 19390655; 18484314; 10942434; 28950998; 19160445; 27259167; 12415512; 25456301; 30007336; 28602933
DDG2P v3.11 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL11A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other
Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962
DDG2P v3.11 COL11A1 Achchuthan Shanmugasundram Publications for gene: COL11A1 were updated from 10573014; 8872475 to 10573014; 17236192; 27081569; 25091507; 25073711; 8872475; 21035103; 9529347; 10486316; 22499343
DDG2P v3.11 COL10A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409
DDG2P v3.11 COG5 Achchuthan Shanmugasundram Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COG4 Achchuthan Shanmugasundram Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were updated from to 30290151
DDG2P v3.11 COASY Achchuthan Shanmugasundram Publications for gene: COASY were updated from 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139 to 25778941; 27021474; 28489334; 11980892; 35499143; 36495139; 24360804; 30089828
DDG2P v3.11 CNTNAP2 Achchuthan Shanmugasundram Publications for gene: CNTNAP2 were updated from 19896112; 16571880; 11568923 to 11568923; 19896112; 16571880
DDG2P v3.11 CNTNAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNTNAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNPY3 Achchuthan Shanmugasundram Source Expert Review Green was added to CNPY3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNOT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT1.
Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other
Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNNM2 Achchuthan Shanmugasundram gene: CNNM2 was added
gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222
Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form
DDG2P v3.11 CNKSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNKSR2.
Publications for gene: CNKSR2 were updated from 22511892; 25644381 to 25644381; 22511892
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Publications for gene: CLTC were updated from 29100083 to 26822784; 29100083
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPP Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP.
Mode of pathogenicity for gene CLPP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPB Achchuthan Shanmugasundram Publications for gene: CLPB were updated from 25597510 to 25597510; 28687938
DDG2P v3.11 CLP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CLP1.
Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other
Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLN8 Achchuthan Shanmugasundram Publications for gene: CLN8 were updated from 10508524 to 16570191; 19431184; 10508524
DDG2P v3.11 CLN6 Achchuthan Shanmugasundram Publications for gene: CLN6 were updated from to 11727201; 15996215; 11791207
DDG2P v3.11 CLN5 Achchuthan Shanmugasundram Publications for gene: CLN5 were updated from 18684116; 20157158; 15728307; 9662406 to 9662406; 18684116; 15728307; 20157158
DDG2P v3.11 CLN3 Achchuthan Shanmugasundram Publications for gene: CLN3 were updated from 7887420; 7553855; 19489875; 9450775 to 7887420; 9450775; 7553855; 19489875
DDG2P v3.11 CLMP Achchuthan Shanmugasundram Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLIC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLDN5 Achchuthan Shanmugasundram gene: CLDN5 was added
gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLDN5 were set to 35714222
Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder
Mode of pathogenicity for gene: CLDN5 was set to Other
DDG2P v3.11 CLDN19 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLCNKB Achchuthan Shanmugasundram Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN7 Achchuthan Shanmugasundram Publications for gene: CLCN7 were updated from 17033731; 11207362; 11741829 to 17033731; 11741829; 11207362
DDG2P v3.11 CLCN6 Achchuthan Shanmugasundram gene: CLCN6 was added
gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327
Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder
Mode of pathogenicity for gene: CLCN6 was set to Other
DDG2P v3.11 CLCN4 Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4.
Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other
Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN3 Achchuthan Shanmugasundram gene: CLCN3 was added
gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN3 were set to 34186028
Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
DDG2P v3.11 CIT Achchuthan Shanmugasundram Source Expert Review Green was added to CIT.
Mode of pathogenicity for gene CIT was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CISD2 Achchuthan Shanmugasundram Publications for gene: CISD2 were updated from to 28335035; 25056293; 17846994; 10739754
DDG2P v3.11 CIC Achchuthan Shanmugasundram Source Expert Review Green was added to CIC.
Publications for gene: CIC were updated from to 35165976; 21076407; 28288114
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CIB2 Achchuthan Shanmugasundram Publications for gene: CIB2 were updated from 23023331 to 23023331; 18505454
DDG2P v3.11 CHSY1 Achchuthan Shanmugasundram Publications for gene: CHSY1 were updated from 9823490; 19952732; 21129727; 21129728 to 21129727; 19952732; 21129728; 9823490
DDG2P v3.11 CHST3 Achchuthan Shanmugasundram Publications for gene: CHST3 were updated from 19320654; 15098240; 18698629; 18513679; 112567; 20830804 to 19320654; 20830804; 112567; 15098240; 18513679; 18698629
DDG2P v3.11 CHST14 Achchuthan Shanmugasundram Publications for gene: CHST14 were updated from to 20533528; 20004762
DDG2P v3.11 CHRNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2.
Mode of pathogenicity for gene CHRNB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRNB1 Achchuthan Shanmugasundram gene: CHRNB1 was added
gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643
Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
DDG2P v3.11 CHRNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CHRNA3 Achchuthan Shanmugasundram gene: CHRNA3 was added
gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract
DDG2P v3.11 CHRNA2 Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2.
Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other
Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CHRNA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRM1 Achchuthan Shanmugasundram gene: CHRM1 was added
gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRM1 were set to 34212451
Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability
Mode of pathogenicity for gene: CHRM1 was set to Other
DDG2P v3.11 CHRDL1 Achchuthan Shanmugasundram Publications for gene: CHRDL1 were updated from 22284829 to 22284829; 26020825; 25712132
DDG2P v3.11 CHMP1A Achchuthan Shanmugasundram Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHM Achchuthan Shanmugasundram Publications for gene: CHM were updated from 7981670; 1598901; 1302003; 8477262; 12827496; 21905166 to 21905166; 1302003; 28271586; 27070432; 7981670; 27820636; 12827496; 8477262; 1598901
DDG2P v3.11 CHKA Achchuthan Shanmugasundram gene: CHKA was added
gene: CHKA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKA were set to 35202461
Phenotypes for gene: CHKA were set to CHKA-related neurodevelopmental disorder
DDG2P v3.11 CHD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD7 Achchuthan Shanmugasundram Publications for gene: CHD7 were updated from 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359 to 16400610; 18978652; 17661815; 17334995; 26590800; 17937444; 15300250; 18074359
DDG2P v3.11 CHD5 Achchuthan Shanmugasundram gene: CHD5 was added
gene: CHD5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy
DDG2P v3.11 CHD3 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3.
Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD1 Achchuthan Shanmugasundram gene: CHD1 was added
gene: CHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to CHD1-related neurodevelopment disorder
DDG2P v3.11 CHAMP1 Achchuthan Shanmugasundram Publications for gene: CHAMP1 were updated from 26340335 to 27148580; 26340335; 26751395; 35271727; 36106092
DDG2P v3.11 CFL2 Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2.
Mode of pathogenicity for gene CFL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CFC1 Achchuthan Shanmugasundram Source Expert Review Green was added to CFC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
DDG2P v3.11 CEP63 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP290 Achchuthan Shanmugasundram Publications for gene: CEP290 were updated from 17705300; 17564974 to 17705300; 16682970; 17554762; 22355252; 17564967; 17564974; 18327255; 16682973; 20690115; 16909394
DDG2P v3.11 CEP135 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CENPJ Achchuthan Shanmugasundram Publications for gene: CENPJ were updated from 20522431 to 20522431; 20978018; 16900296; 12843329; 15793586
DDG2P v3.11 CENPF Achchuthan Shanmugasundram Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CELF2 Achchuthan Shanmugasundram gene: CELF2 was added
gene: CELF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to CELF2-related neurodevelopmental disorder
DDG2P v3.11 CDT1 Achchuthan Shanmugasundram Publications for gene: CDT1 were updated from 11992493; 21358632 to 21358632; 11992493
DDG2P v3.11 CDON Achchuthan Shanmugasundram Mode of pathogenicity for gene CDON was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDKN1C Achchuthan Shanmugasundram Publications for gene: CDKN1C were updated from 22634751; 24624461; 28508599; 20503313; 8841187; 14997421; 9341892 to 9341892; 8841187; 14997421; 24624461; 20503313; 22634751; 28508599
DDG2P v3.11 CDKL5 Achchuthan Shanmugasundram Publications for gene: CDKL5 were updated from 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 to 35934918; 17993579; 18809835; 19396824; 15499549; 15689447; 19793311; 15492925; 16611748; 16813600; 19241098
DDG2P v3.11 CDK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDK5RAP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK5RAP2.
Publications for gene: CDK5RAP2 were updated from to 32015000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDK19 Achchuthan Shanmugasundram gene: CDK19 was added
gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy
Mode of pathogenicity for gene: CDK19 was set to Other
DDG2P v3.11 CDK16 Achchuthan Shanmugasundram Mode of inheritance for gene CDK16 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CDK16 were updated from 25644381 to 25644381; 36323681
DDG2P v3.11 CDK13 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other
Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965
DDG2P v3.11 CDK10 Achchuthan Shanmugasundram Publications for gene: CDK10 were updated from 29130579; 28886341 to 28886341; 29130579
DDG2P v3.11 CDH3 Achchuthan Shanmugasundram Publications for gene: CDH3 were updated from 11544476; 12445216 to 15805154; 22140374; 11544476; 12445216
DDG2P v3.11 CDH23 Achchuthan Shanmugasundram Publications for gene: CDH23 were updated from 11090341; 15537665; 21228398; 11138009 to 21228398; 17850630; 12075507; 11138009; 15829536; 11090341; 15537665
DDG2P v3.11 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDH15 Achchuthan Shanmugasundram Publications for gene: CDH15 were updated from 19012874; 26506440 to 26506440; 19012874
DDG2P v3.11 CDH11 Achchuthan Shanmugasundram gene: CDH11 was added
gene: CDH11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 30194892; 28988429; 29271567; 34278706
Phenotypes for gene: CDH11 were set to CDH11-related, OMIM:211380
DDG2P v3.11 CDH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDH1 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH1 were updated from 100000 to 100000; 29348693
DDG2P v3.11 CDC42BPB Achchuthan Shanmugasundram gene: CDC42BPB was added
gene: CDC42BPB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to CDC42BPB-related Neurodevelopmental Disorder
DDG2P v3.11 CDC42 Achchuthan Shanmugasundram gene: CDC42 was added
gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42 were set to 26708094; 29394990; 26386261
Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder
Mode of pathogenicity for gene: CDC42 was set to Other
DDG2P v3.11 CDC40 Achchuthan Shanmugasundram gene: CDC40 was added
gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mode of pathogenicity for gene: CDC40 was set to Other
DDG2P v3.11 CD96 Achchuthan Shanmugasundram Source Expert Review Red was added to CD96.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CD151 Achchuthan Shanmugasundram Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCND2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CCND2 was changed from Other - please provide details in the comments to Other
Publications for gene: CCND2 were updated from to 24705253
DDG2P v3.11 CCDC88C Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC88A Achchuthan Shanmugasundram Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 CCDC8 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC78 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC78.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC47 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC32 Achchuthan Shanmugasundram gene: CCDC32 was added
gene: CCDC32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 35451546; 32307552
Phenotypes for gene: CCDC32 were set to CCDC32-associated neurodevelopmental syndrome
DDG2P v3.11 CCDC22 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22.
Mode of pathogenicity for gene CCDC22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC151 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CC2D2A Achchuthan Shanmugasundram Publications for gene: CC2D2A were updated from 18950740; 18387594; 22246503 to 18513680; 22246503; 18387594; 23351400; 20671153; 19777577; 2929661; 19574260; 8862632; 18950740
DDG2P v3.11 CBS Achchuthan Shanmugasundram Publications for gene: CBS were updated from 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 to 8353501; 8528202; 1301198; 10780316; 9361025; 7506602; 8990018; 14635102; 16479318; 10338090; 8755636
DDG2P v3.11 CBL Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other
Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386
DDG2P v3.11 CASK Achchuthan Shanmugasundram Publications for gene: CASK were updated from 21954287; 19165920 to 34085948; 19200522; 19165920; 21954287; 19377476; 20029458
DDG2P v3.11 CARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to CARS2.
Publications for gene: CARS2 were updated from 25787132; 25361775 to 25361775; 25787132
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CARS Achchuthan Shanmugasundram Source Expert Review Green was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAPRIN1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1.
Mode of pathogenicity for gene CAPRIN1 was changed from to Other
Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 CANT1 Achchuthan Shanmugasundram gene: CANT1 was added
gene: CANT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 19853239
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, OMIM:251450
DDG2P v3.11 CAMTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAMTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMSAP1 Achchuthan Shanmugasundram gene: CAMSAP1 was added
gene: CAMSAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to CAMSAP1-associated neuronal migration disorder
DDG2P v3.11 CAMK2G Achchuthan Shanmugasundram gene: CAMK2G was added
gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2G were set to 23033978; 30184290
Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
Mode of pathogenicity for gene: CAMK2G was set to Other
DDG2P v3.11 CAMK2B Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMK2A Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAD Achchuthan Shanmugasundram Publications for gene: CAD were updated from to 25678555; 28007989
DDG2P v3.11 CACNB4 Achchuthan Shanmugasundram Source Expert Review Red was added to CACNB4.
Publications for gene: CACNB4 were updated from to 10762541
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CACNA2D1 Achchuthan Shanmugasundram gene: CACNA2D1 was added
gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CACNA2D1 was set to Other
DDG2P v3.11 CACNA1H Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1G Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1E Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1D Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1D.
Publications for gene: CACNA1D were updated from 23913001 to 21131953; 23913001
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1C Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1B Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1A Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A.
Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other
Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA8 Achchuthan Shanmugasundram Publications for gene: CA8 were updated from 19461874; 21937992 to 21937992; 19461874
DDG2P v3.11 CA5A Achchuthan Shanmugasundram Source Expert Review Green was added to CA5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA2 Achchuthan Shanmugasundram Publications for gene: CA2 were updated from 12566520; 8127074; 5041390; 1301935 to 5041390; 12566520; 8127074; 1301935
DDG2P v3.11 C8orf37 Achchuthan Shanmugasundram Publications for gene: C8orf37 were updated from 22177090 to 27008867; 26854863; 25802487; 22177090; 26865426; 25113443
DDG2P v3.11 C2orf71 Achchuthan Shanmugasundram Publications for gene: C2orf71 were updated from to 27029556; 20398886; 24780881; 20398884
DDG2P v3.11 C2CD3 Achchuthan Shanmugasundram Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C21orf59 Achchuthan Shanmugasundram Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C1QBP Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP.
Mode of pathogenicity for gene C1QBP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C12orf65 Achchuthan Shanmugasundram Publications for gene: C12orf65 were updated from to 24198383; 20598281; 26380172; 24284555; 24080142; 24424123; 23188110; 27858754
DDG2P v3.11 C12orf57 Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57.
Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other
Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C11orf70 Achchuthan Shanmugasundram Publications for gene: C11orf70 were updated from 29727693; 29727692 to 29727692; 29727693
DDG2P v3.11 BUB1B Achchuthan Shanmugasundram Publications for gene: BUB1B were updated from 9916837; 21190457; 16411201; 11169558; 15475955 to 21190457; 9916837; 16411201; 11169558; 15475955
DDG2P v3.11 BUB1 Achchuthan Shanmugasundram gene: BUB1 was added
gene: BUB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1 were set to 35044816
Phenotypes for gene: BUB1 were set to BUB1-related microcephaly and developmental disorder
DDG2P v3.11 BTD Achchuthan Shanmugasundram Publications for gene: BTD were updated from 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148 to 7550325; 9158148; 8894703; 9375914; 10801053; 9705240; 9099842
DDG2P v3.11 BSND Achchuthan Shanmugasundram Publications for gene: BSND were updated from 19646679; 12574213; 11687798 to 12574213; 11687798; 19646679
DDG2P v3.11 BSN Achchuthan Shanmugasundram gene: BSN was added
gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BSN were set to 36600631
Phenotypes for gene: BSN were set to BSN-related epilepsy
Mode of pathogenicity for gene: BSN was set to Other
DDG2P v3.11 BRWD3 Achchuthan Shanmugasundram Publications for gene: BRWD3 were updated from 17668385 to 17668385; 30628072; 31714006
DDG2P v3.11 BRSK2 Achchuthan Shanmugasundram Source Expert Review Green was added to BRSK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRPF1 Achchuthan Shanmugasundram Publications for gene: BRPF1 were updated from 27939639; 27939640 to 27939640; 27939639
DDG2P v3.11 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519; 32896090
Phenotypes for gene: BRF1 were set to BRF1-related cerebellofaciodental syndrome, OMIM:616202
DDG2P v3.11 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Publications for gene: BRD4 were updated from 29379197; 30302754 to 30302754; 29379197
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRCA2 Achchuthan Shanmugasundram Publications for gene: BRCA2 were updated from to 14670928; 15070707; 12065746
DDG2P v3.11 BRCA1 Achchuthan Shanmugasundram Publications for gene: BRCA1 were updated from 12624153 to 34680915; 12624153
DDG2P v3.11 BRAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRAF Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other
Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262
DDG2P v3.11 BPTF Achchuthan Shanmugasundram Source Expert Review Green was added to BPTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BOLA3 Achchuthan Shanmugasundram Source Expert Review Green was added to BOLA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BMPR1B Achchuthan Shanmugasundram Publications for gene: BMPR1B were updated from 14523231; 18203755 to 18203755; 14523231
DDG2P v3.11 BMP4 Achchuthan Shanmugasundram Publications for gene: BMP4 were updated from 21340693; 18252212 to 18252212; 19249007; 21340693
DDG2P v3.11 BMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to BMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLOC1S6 Achchuthan Shanmugasundram Source Expert Review Green was added to BLOC1S6.
Publications for gene: BLOC1S6 were updated from 21665000 to 21665000; 22461475
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLM Achchuthan Shanmugasundram Publications for gene: BLM were updated from to 10678659; 7585968; 8875252
DDG2P v3.11 BIN1 Achchuthan Shanmugasundram Publications for gene: BIN1 were updated from 20142620; 17676042 to 17676042; 20142620
DDG2P v3.11 BICRA Achchuthan Shanmugasundram gene: BICRA was added
gene: BICRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to BICRA-related Developmental Disorder
DDG2P v3.11 BICD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BHLHA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other
Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284
DDG2P v3.11 BGN Achchuthan Shanmugasundram Publications for gene: BGN were updated from 27632686 to 27632686; 27236923; 34807424
DDG2P v3.11 BFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BCORL1 Achchuthan Shanmugasundram gene: BCORL1 was added
gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome
Mode of pathogenicity for gene: BCORL1 was set to Other
DDG2P v3.11 BCOR Achchuthan Shanmugasundram Publications for gene: BCOR were updated from 15957158; 19367324; 15004558; 15770227 to 29974297; 28317252; 19367324; 15957158; 31048080; 15004558; 15770227
DDG2P v3.11 BCL11B Achchuthan Shanmugasundram gene: BCL11B was added
gene: BCL11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11B were set to BCL11B-related developmental disorder (monoallelic)
DDG2P v3.11 BCL11A Achchuthan Shanmugasundram Publications for gene: BCL11A were updated from 27453576; 25533962 to 25533962; 35856171; 27453576
DDG2P v3.11 BCKDHA Achchuthan Shanmugasundram Publications for gene: BCKDHA were updated from 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 to 1847055; 1990841; 14508502; 11509994; 9582350; 2703538; 18378174; 14742428; 9621512; 8430702; 7883996; 2010537; 2022752
DDG2P v3.11 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
DDG2P v3.11 BBS9 Achchuthan Shanmugasundram Publications for gene: BBS9 were updated from to 16380913; 22353939
DDG2P v3.11 BBS7 Achchuthan Shanmugasundram Publications for gene: BBS7 were updated from to 12567324
DDG2P v3.11 BBS5 Achchuthan Shanmugasundram Publications for gene: BBS5 were updated from to 18203199; 15137946
DDG2P v3.11 BBS4 Achchuthan Shanmugasundram Publications for gene: BBS4 were updated from to 11381270; 12016587
DDG2P v3.11 BBS2 Achchuthan Shanmugasundram Publications for gene: BBS2 were updated from to 20618352; 11567139; 16823392; 11285252
DDG2P v3.11 BBS12 Achchuthan Shanmugasundram Publications for gene: BBS12 were updated from to 19797195; 26082521; 17160889; 20827784
DDG2P v3.11 BBS10 Achchuthan Shanmugasundram Publications for gene: BBS10 were updated from to 26762677; 20805367; 16582908
DDG2P v3.11 BBS1 Achchuthan Shanmugasundram Publications for gene: BBS1 were updated from to 23143442; 12524598; 10577922; 10577921; 20177705; 12118255; 12837689
DDG2P v3.11 BAZ2B Achchuthan Shanmugasundram gene: BAZ2B was added
gene: BAZ2B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to BAZ2B-associated neurodevelopmental disorder
DDG2P v3.11 BAP1 Achchuthan Shanmugasundram gene: BAP1 was added
gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAP1 were set to 35051358
Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: BAP1 was set to Other
DDG2P v3.11 BANF1 Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1.
Mode of pathogenicity for gene BANF1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B9D1 Achchuthan Shanmugasundram Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B4GALT1 Achchuthan Shanmugasundram gene: B4GALT1 was added
gene: B4GALT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT1 were set to 32157688; 21920538; 11901181
Phenotypes for gene: B4GALT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091
DDG2P v3.11 B3GAT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene B3GAT3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 B3GALNT2 Achchuthan Shanmugasundram Source Expert Review Green was added to B3GALNT2.
Publications for gene: B3GALNT2 were updated from 23453667 to 29791932; 23453667
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AXIN1 Achchuthan Shanmugasundram Mode of inheritance for gene AXIN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene AXIN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AUTS2 Achchuthan Shanmugasundram Publications for gene: AUTS2 were updated from 23332918 to 26545289; 23650183; 25205402; 23332918; 31788251; 27531620; 27075013; 24459036
DDG2P v3.11 AUH Achchuthan Shanmugasundram Publications for gene: AUH were updated from 20855850; 15033206; 12434311; 10070612; 6181239 to 6181239; 20855850; 15033206; 10070612; 12434311
DDG2P v3.11 ATRX Achchuthan Shanmugasundram Publications for gene: ATRX were updated from 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714 to 16222662; 9244431; 7697714; 10632111; 15565397; 10751095; 9598720; 9043863; 10995512; 8644709; 6711605; 12116232; 6682021
DDG2P v3.11 ATR Achchuthan Shanmugasundram Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP9A Achchuthan Shanmugasundram gene: ATP9A was added
gene: ATP9A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295
Phenotypes for gene: ATP9A were set to ATP9A-related neurodevelopmental disorder
DDG2P v3.11 ATP8A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528
DDG2P v3.11 ATP7A Achchuthan Shanmugasundram Publications for gene: ATP7A were updated from 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 to 8149649; 11431706; 15372525; 19194885; 9246006; 17108763; 20170900; 10739752; 14635105; 9894833; 12221109; 19153371; 7842019; 8812725
DDG2P v3.11 ATP6V1E1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1.
Mode of pathogenicity for gene ATP6V1E1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1B2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2.
Mode of pathogenicity for gene ATP6V1B2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1A Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1A.
Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other
Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V0C Achchuthan Shanmugasundram gene: ATP6V0C was added
gene: ATP6V0C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0C were set to 36074901; 33190975; 24623842; 28135719
Phenotypes for gene: ATP6V0C were set to ATP6V0C-related Developmental Disorder
DDG2P v3.11 ATP6V0A1 Achchuthan Shanmugasundram gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224
Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ATP6V0A1 was set to Other
DDG2P v3.11 ATP6AP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATP5D Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5D.
Mode of pathogenicity for gene ATP5D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP5A1 Achchuthan Shanmugasundram gene: ATP5A1 was added
gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069
Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia
Mode of pathogenicity for gene: ATP5A1 was set to Other
DDG2P v3.11 ATP2B1 Achchuthan Shanmugasundram gene: ATP2B1 was added
gene: ATP2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2B1 were set to 35358416
Phenotypes for gene: ATP2B1 were set to ATP2B1-related neurodevelopmental disorder
DDG2P v3.11 ATP1A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP1A3 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP1A3 were updated from 22842232 to 33880529; 22842232
DDG2P v3.11 ATP1A2 Achchuthan Shanmugasundram gene: ATP1A2 was added
gene: ATP1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 31608932; 20837964; 17435187; 30690204; 33880529; 33493807
Phenotypes for gene: ATP1A2 were set to ATP1A2-related epileptic encephalopathy; MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related; Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
DDG2P v3.11 ATP1A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP1A1.
Mode of pathogenicity for gene ATP1A1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATOH7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Mode of pathogenicity for gene ATN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATM Achchuthan Shanmugasundram Publications for gene: ATM were updated from 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587 to 8755918; 9887333; 11826028; 8808599; 9450874; 9600235; 7792600; 11889466; 22345219; 8968760; 2491181; 9521587; 9443866; 9781027
DDG2P v3.11 ATL1 Achchuthan Shanmugasundram gene: ATL1 was added
gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 35925862
Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia
DDG2P v3.11 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Source DD-Gene2Phenotype was added to ATG7.
Added phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422 for gene: ATG7
Publications for gene: ATG7 were updated from PMID:34161705 to 34161705; PMID:34161705
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 ATG4D Achchuthan Shanmugasundram gene: ATG4D was added
gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG4D were set to 36765070
Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder
Mode of pathogenicity for gene: ATG4D was set to Other
DDG2P v3.11 ATAD3A Achchuthan Shanmugasundram Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were updated from 27640307 to 32004445; 27640307
DDG2P v3.11 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Publications for gene: ASXL3 were updated from 23383720 to 29316359; 24044690; 29367179; 31180560; 27075689; 27901041; 29305346; 28955728; 23383720; 28100473; 32240826; 31638014; 29445472
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL1 Achchuthan Shanmugasundram Publications for gene: ASXL1 were updated from 21706002; 22419483 to 22419483; 21706002
DDG2P v3.11 ASPH Achchuthan Shanmugasundram Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASPA Achchuthan Shanmugasundram Publications for gene: ASPA were updated from 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 to 8088831; 8659549; 12638939; 7599639; 8252036; 10564886; 10909858; 7668285; 8023850; 16437572
DDG2P v3.11 ASNS Achchuthan Shanmugasundram gene: ASNS was added
gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574
DDG2P v3.11 ASL Achchuthan Shanmugasundram Publications for gene: ASL were updated from 2263616; 12408190; 12384776 to 2263616; 12408190; 12384776
DDG2P v3.11 ASH1L Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L.
Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other
Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASCL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC1 Achchuthan Shanmugasundram Publications for gene: ASCC1 were updated from 26924529 to 35838082; 26924529
DDG2P v3.11 ASAH1 Achchuthan Shanmugasundram Publications for gene: ASAH1 were updated from 22703880 to 22703880; 8955159; 11241842; 10610716; 16951918
DDG2P v3.11 ARX Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467
DDG2P v3.11 ARSE Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863
DDG2P v3.11 ARSB Achchuthan Shanmugasundram Publications for gene: ARSB were updated from 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 to 1550123; 17643332; 8723688; 1301949; 1718978; 8651289
DDG2P v3.11 ARSA Achchuthan Shanmugasundram Publications for gene: ARSA were updated from 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 to 1670590; 7906588; 8101038; 8104633; 9600244; 11941485; 11456299; 7833949; 7909527; 7858169; 1678251; 7815433; 1353340; 1673291; 12788103; 2574462; 11061266; 8101083; 7902317; 7866401; 1676699; 7981715; 1684088
DDG2P v3.11 ARPC4 Achchuthan Shanmugasundram gene: ARPC4 was added
gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay
Mode of pathogenicity for gene: ARPC4 was set to Other
DDG2P v3.11 ARNT2 Achchuthan Shanmugasundram gene: ARNT2 was added
gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926
DDG2P v3.11 ARL6 Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913
DDG2P v3.11 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Publications for gene: ARID2 were updated from 28124119 to 36756859; 28124119
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARID1B Achchuthan Shanmugasundram Publications for gene: ARID1B were updated from 22426309; 22426308; 22405089; 30349098 to 30349098; 22426309; 22426308; 22405089
DDG2P v3.11 ARHGEF9 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ARHGAP35 Achchuthan Shanmugasundram gene: ARHGAP35 was added
gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP35 were set to 33057194; 28641477
Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic)
DDG2P v3.11 ARHGAP31 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGAP31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARG1 Achchuthan Shanmugasundram Publications for gene: ARG1 were updated from 10502833; 2365823; 1463019; 7649538; 1598908 to 1463019; 1598908; 2365823; 10502833; 7649538
DDG2P v3.11 ARFGEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARFGEF1 Achchuthan Shanmugasundram gene: ARFGEF1 was added
gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARFGEF1 were set to 34113008
Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy
DDG2P v3.11 ARF3 Achchuthan Shanmugasundram gene: ARF3 was added
gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF3 were set to 36369169
Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder
Mode of pathogenicity for gene: ARF3 was set to Other
DDG2P v3.11 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF1 were set to 33057194; 28868155; 34353862
Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Mode of pathogenicity for gene: ARF1 was set to Other
DDG2P v3.11 ARCN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 APTX Achchuthan Shanmugasundram Publications for gene: APTX were updated from 12196655; 11586300; 11586299; 15365154; 15852392 to 15852392; 11586300; 12196655; 11586299; 15365154
DDG2P v3.11 APOPT1 Achchuthan Shanmugasundram Publications for gene: APOPT1 were updated from to 25175347; 27588451
DDG2P v3.11 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4S1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4M1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4B1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4B1.
Publications for gene: AP4B1 were updated from 21620353; 22290197 to 22290197; 21620353
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP3B2 Achchuthan Shanmugasundram Source Expert Review Green was added to AP3B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP2S1 Achchuthan Shanmugasundram gene: AP2S1 was added
gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP2S1 were set to 33057194
Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AP2S1 was set to Other
DDG2P v3.11 AP2M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1.
Mode of pathogenicity for gene AP2M1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP1S2 Achchuthan Shanmugasundram Publications for gene: AP1S2 were updated from 17617514; 5054319; 10398241; 17186471; 12599187 to 17617514; 17186471; 12599187; 5054319; 10398241
DDG2P v3.11 AP1G1 Achchuthan Shanmugasundram gene: AP1G1 was added
gene: AP1G1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP1G1 were set to 34102099
Phenotypes for gene: AP1G1 were set to AP1G1-related intellectual disability, biallelic; AP1G1-related intellectual disability and epilepsy, monoallelic
DDG2P v3.11 AP1B1 Achchuthan Shanmugasundram gene: AP1B1 was added
gene: AP1B1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630791; 31630788
Phenotypes for gene: AP1B1 were set to MEDNIK-like Syndrome
DDG2P v3.11 ANO5 Achchuthan Shanmugasundram Mode of inheritance for gene ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 ANO1 Achchuthan Shanmugasundram gene: ANO1 was added
gene: ANO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to ANO1-associated intestinal disease
DDG2P v3.11 ANKRD26 Achchuthan Shanmugasundram Source Expert Review Green was added to ANKRD26.
Mode of pathogenicity for gene ANKRD26 was changed from Other - please provide details in the comments to Other
Publications for gene: ANKRD26 were updated from 21211618; 10521306 to 10521306; 21211618
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to ANKRD17-associated neurodevelopmental disorder
DDG2P v3.11 ANKRD11 Achchuthan Shanmugasundram Publications for gene: ANKRD11 were updated from 15523620; 15378538; 21782149 to 23494856; 25464108; 30877071; 15378538; 28449295; 23184435; 29224748; 30088855; 25652421; 21782149; 15523620; 28250421; 27667800; 27900361; 25838844
DDG2P v3.11 ANKH Achchuthan Shanmugasundram Publications for gene: ANKH were updated from 13130483; 8528213; 12297987; 8244341; 12297989; 9915952 to 9915952; 12297989; 12297987; 2712793; 13130483; 8528213; 11326272; 14322785; 8244341; 20358596
DDG2P v3.11 ANK2 Achchuthan Shanmugasundram gene: ANK2 was added
gene: ANK2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANK2 were set to 25356970; 30755392; 22542183; 28191889
Phenotypes for gene: ANK2 were set to ANK2-related neurodevelopmental disorder
DDG2P v3.11 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Source DD-Gene2Phenotype was added to AMOTL1.
Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1
Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 AMER1 Achchuthan Shanmugasundram Publications for gene: AMER1 were updated from to 19079258
DDG2P v3.11 ALPL Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ALMS1 Achchuthan Shanmugasundram Publications for gene: ALMS1 were updated from 11941370; 11941369; 21877133; 9063741; 17594715; 17850632 to 11941369; 22043170; 9063741; 17850632; 21877133; 17594715; 11941370
DDG2P v3.11 ALKBH8 Achchuthan Shanmugasundram gene: ALKBH8 was added
gene: ALKBH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898; 33544954; 34757492
Phenotypes for gene: ALKBH8 were set to ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504
DDG2P v3.11 ALG9 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG13 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13.
Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other
Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG12 Achchuthan Shanmugasundram Publications for gene: ALG12 were updated from 12217961; 11983712; 12093361 to 11983712; 12093361; 12217961
DDG2P v3.11 ALG11 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALDOA Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other
Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869
DDG2P v3.11 ALDH7A1 Achchuthan Shanmugasundram Publications for gene: ALDH7A1 were updated from 16491085; 17721876; 17068770 to 17068770; 16491085; 17721876
DDG2P v3.11 ALDH3A2 Achchuthan Shanmugasundram Publications for gene: ALDH3A2 were updated from 9250352; 9254849; 8528251; 10792573; 10577908 to 9250352; 10577908; 10792573; 8528251; 9254849
DDG2P v3.11 ALDH1A3 Achchuthan Shanmugasundram Publications for gene: ALDH1A3 were updated from 23312594 to 24568872; 23312594; 26873617; 23646827; 24024553; 24777706; 23591992
DDG2P v3.11 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183
Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Mode of pathogenicity for gene: ALDH1A2 was set to Other
DDG2P v3.11 ALDH18A1 Achchuthan Shanmugasundram Publications for gene: ALDH18A1 were updated from 26320891 to 26829900; 26297557; 26320891; 26297558; 28228640; 26026163
DDG2P v3.11 ALAD Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD.
Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 AKT3 Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3.
Mode of pathogenicity for gene AKT3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AKT2 Achchuthan Shanmugasundram gene: AKT2 was added
gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934
Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Mode of pathogenicity for gene: AKT2 was set to Other
DDG2P v3.11 AKT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene AKT1 was changed from Other - please provide details in the comments to Other
Publications for gene: AKT1 were updated from 21793738; 22876373 to 22876373; 21793738
DDG2P v3.11 AIRE Achchuthan Shanmugasundram Publications for gene: AIRE were updated from 9398839 to 9398839; 12050215; 16965330; 9398840; 9837820
DDG2P v3.11 AIPL1 Achchuthan Shanmugasundram Publications for gene: AIPL1 were updated from 10615133; 10873396 to 10615133; 26650897; 10873396
DDG2P v3.11 AIMP1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AIFM1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1.
Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other
Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AHI1 Achchuthan Shanmugasundram Publications for gene: AHI1 were updated from 16453322 to 25616960; 16453322; 16155189; 15467982; 25356976; 28442542; 16240161
DDG2P v3.11 AHDC1 Achchuthan Shanmugasundram Publications for gene: AHDC1 were updated from 24791903 to 31182893; 27148574; 30622101; 30729726; 30152016; 29230160; 30858058; 24791903; 29696776; 35596688; 32256298; 31812316
DDG2P v3.11 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779
Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
DDG2P v3.11 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other
Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941
DDG2P v3.11 AGO1 Achchuthan Shanmugasundram gene: AGO1 was added
gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AGO1 were set to 35060114
Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AGO1 was set to Other
DDG2P v3.11 AGL Achchuthan Shanmugasundram Publications for gene: AGL were updated from 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417 to 8702417; 19834502; 9412782; 8990006; 11378828; 10571954; 8755644; 10925384; 10655153; 9490286
DDG2P v3.11 AGK Achchuthan Shanmugasundram Publications for gene: AGK were updated from 15168109; 22284826; 22277967; 3560758 to 22415731; 22284826; 22277967; 26622071; 3560758; 25208612; 15168109; 23266196
DDG2P v3.11 AGA Achchuthan Shanmugasundram Publications for gene: AGA were updated from 6883788; 1765378; 8776587 to 1765378; 8776587; 6883788
DDG2P v3.11 AFG3L2 Achchuthan Shanmugasundram Source Expert Review Red was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 AFF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene AFF4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other
Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AFF2 Achchuthan Shanmugasundram Publications for gene: AFF2 were updated from 21739600; 8334699 to 8334699; 21739600
DDG2P v3.11 ADSL Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other
Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474
DDG2P v3.11 ADRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ADRA2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADPRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ADPRHL2.
Publications for gene: ADPRHL2 were updated from 30388405; 30401461 to 30401461; 30388405
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADNP Achchuthan Shanmugasundram Publications for gene: ADNP were updated from 24531329 to 28475273; 29475819; 30107084; 32275126; 25169753; 28221363; 29724491; 31127536; 27031564; 24531329; 28407407
DDG2P v3.11 ADK Achchuthan Shanmugasundram Mode of pathogenicity for gene ADK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADCY5 Achchuthan Shanmugasundram gene: ADCY5 was added
gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ADCY5 was set to Other
DDG2P v3.11 ADARB1 Achchuthan Shanmugasundram gene: ADARB1 was added
gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures
Mode of pathogenicity for gene: ADARB1 was set to Other
DDG2P v3.11 ADAR Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015
DDG2P v3.11 ADAMTSL2 Achchuthan Shanmugasundram gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 18677313; 21415077
Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1
DDG2P v3.11 ADAMTS9 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9.
Mode of pathogenicity for gene ADAMTS9 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADAMTS18 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18.
Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ADAM22 Achchuthan Shanmugasundram gene: ADAM22 was added
gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 35373813
Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy
DDG2P v3.11 ADA Achchuthan Shanmugasundram Publications for gene: ADA were updated from 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 to 8227344; 9225964; 46025; 21228398; 8031011; 3684597; 3475710; 2783588; 9361033; 8673127; 11807006; 980079; 2166947; 8614422; 1680289; 3839802; 3182793
DDG2P v3.11 ACY1 Achchuthan Shanmugasundram Publications for gene: ACY1 were updated from 17562838; 16274666; 16465618 to 17562838; 16465618; 16274666
DDG2P v3.11 ACVR2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACVR1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1.
Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other
Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACTL6B Achchuthan Shanmugasundram Publications for gene: ACTL6B were updated from 28867141; 31130285 to 28867141; 30656450; 31031012; 31130285
DDG2P v3.11 ACTG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACTB Achchuthan Shanmugasundram Publications for gene: ACTB were updated from 100000; 22366783 to 29220674; 22366783; 100000; 27625340
DDG2P v3.11 ACTA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other
Publications for gene: ACTA2 were updated from to 35567597
DDG2P v3.11 ACTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1.
Mode of pathogenicity for gene ACTA1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACSL4 Achchuthan Shanmugasundram Source Expert Review Green was added to ACSL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACP5 Achchuthan Shanmugasundram Publications for gene: ACP5 were updated from 12786759; 21217752; 21217755; 16470600; 13524805 to 21217755; 16470600; 21217752; 12786759; 13524805
DDG2P v3.11 ACOX1 Achchuthan Shanmugasundram Publications for gene: ACOX1 were updated from 17458872; 8279468; 11815777; 2894756; 18536048 to 17458872; 2894756; 8279468; 18536048; 11815777
DDG2P v3.11 ACO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were updated from 22405087; 34056600 to 28545339; 29577077; 29564393; 22405087; 34056600; 31106992
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACER3 Achchuthan Shanmugasundram gene: ACER3 was added
gene: ACER3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 34281620; 32816236
Phenotypes for gene: ACER3 were set to ACER3-related leukodystrophy, OMIM:617762
DDG2P v3.11 ACBD5 Achchuthan Shanmugasundram gene: ACBD5 was added
gene: ACBD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409; 33427402
Phenotypes for gene: ACBD5 were set to ACBD5 deficiency, OMIM:618863
DDG2P v3.11 ACAT1 Achchuthan Shanmugasundram Publications for gene: ACAT1 were updated from 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617 to 7907600; 4690360; 1715688; 1627655; 9700610; 1346617; 11914035; 1979337
DDG2P v3.11 ACADVL Achchuthan Shanmugasundram Publications for gene: ACADVL were updated from 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 to 8554073; 9546340; 9709714; 7668252; 11158518; 7479827; 10790204
DDG2P v3.11 ACADS Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACADM Achchuthan Shanmugasundram Publications for gene: ACADM were updated from 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 to 7929823; 1684086; 6434827; 1972503; 7603790; 11409868; 11349232; 9158144
DDG2P v3.11 ABL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ABL1.
Mode of pathogenicity for gene ABL1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34587489
Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
DDG2P v3.11 ABCD4 Achchuthan Shanmugasundram Source Expert Review Green was added to ABCD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABCD1 Achchuthan Shanmugasundram Publications for gene: ABCD1 were updated from to 7904210; 8441467; 11748843
DDG2P v3.11 ABCC9 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCC6 Achchuthan Shanmugasundram Publications for gene: ABCC6 were updated from 22209248 to 10835642; 22209248; 10811882; 10835643
DDG2P v3.11 ABCB7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB11 Achchuthan Shanmugasundram Publications for gene: ABCB11 were updated from 10579978; 16039748; 9806540 to 10579978; 16039748; 9806540
DDG2P v3.11 ABAT Achchuthan Shanmugasundram gene: ABAT was added
gene: ABAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 28411234; 27903293; 27376954
Phenotypes for gene: ABAT were set to ABAT-related GABA-transaminase Deficiency
DDG2P v3.11 AASS Achchuthan Shanmugasundram Source Expert Review Green was added to AASS.
Publications for gene: AASS were updated from 934735; 10775527 to 23570448; 10775527; 934735
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AARS Achchuthan Shanmugasundram Source Expert Review Green was added to AARS.
Publications for gene: AARS were updated from 25817015 to 25817015; 34446925
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AAAS Achchuthan Shanmugasundram Publications for gene: AAAS were updated from 11701718; 11159947; 18628786; 15173230; 11062474 to 11701718; 11062474; 15173230; 11159947; 18628786
Mosaic skin disorders - deep sequencing v2.37 AKT2 Arina Puzriakova commented on gene: AKT2
Mosaic skin disorders - deep sequencing v2.37 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Mosaic skin disorders - deep sequencing v2.36 AKT2 Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v2.35 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Overgrowth syndrome (not always mosaic in this case) to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Mosaic skin disorders - deep sequencing v2.34 KITLG Arina Puzriakova Phenotypes for gene: KITLG were changed from Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation to Linear and whorled nevoid hypermelanosis (LWNH); Hyperpigmentation with or without hypopigmentation, OMIM:145250
Mosaic skin disorders - deep sequencing v2.33 KITLG Arina Puzriakova Publications for gene: KITLG were set to
Mosaic skin disorders - deep sequencing v2.32 KITLG Arina Puzriakova Classified gene: KITLG as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.32 KITLG Arina Puzriakova Added comment: Comment on list classification: Upgrading rating from Grey (removed) to Amber. One patient has been reported with congenital linear and mottled hyperpigmentation on trunk and limbs due to a de novo postzygotic KITLG variant (p.Asp110Gly). Immunohistochemistry suggested that this variant results in increased epidermal expression of KITLG and an increased number of epidermal melanocytes (PMID: 28257793).

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

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

This data has been submitted for publication

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

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

This data has been accepted for publication.

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

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

Monoallelic variants in LDB3 are associated with dilated cardiomyopathy with or without left ventricular noncompaction in both OMIM (MIM #601493) and Gene2Phenotype (with 'limited' rating in the DD panel). Two unrelated families reported in PMID:16427346, of which twin sisters from a family presented with isolated LVNC shortly after the brith, while male proband from second family was diagnosed at 13 years of age. The six unrelated patients with hypertrophic cardiomyopathy were diagnosed in the third to seventh decades of life (PMID:17097056).
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal".
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: LDB3.
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16427346, 36253531; Phenotypes: dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Deleted their comment
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Deleted their comment
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence)
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review.
Monogenic hearing loss v4.18 GPR156 Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.17 GPR156 Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss disorder, MONDO:0020678 to sensorineural hearing loss disorder, MONDO:0020678
Monogenic hearing loss v4.17 GPR156 Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss to sensorineural hearing loss disorder, MONDO:0020678
Monogenic hearing loss v4.16 GPR156 Achchuthan Shanmugasundram Publications for gene: GPR156 were set to 36928819
Monogenic hearing loss v4.15 GPR156 Achchuthan Shanmugasundram Publications for gene: GPR156 were set to PMID:36928829
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: GPR156.
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: GPR156.
Monogenic hearing loss v4.14 GPR156 Achchuthan Shanmugasundram reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928819; Phenotypes: sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.4 KDM6A Hannah Knight reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36672956; Phenotypes: Kabuki syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v3.4 PQBP1 Hannah Knight reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31718390; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v3.4 RHOA Hannah Knight reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35178721; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 SMG8 Hannah Knight gene: SMG8 was added
gene: SMG8 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 34761517
Phenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome
Review for gene: SMG8 was set to AMBER
Added comment: PMID: 34761517 describe a patient with Alzahrani-Kuwahara syndrome and unilateral microphthalmia.
There is some evidence that SMG9 may cause microphthalmia (PMID: 27018474), and these two genes work together
Sources: Literature
Structural eye disease v3.4 NUP188 Hannah Knight reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: 36158057; Phenotypes: Sandestig-Stefanova syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT81 Ronnie Wright reviewed gene: KRT81: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9665406, 9402962; Phenotypes: Monilethrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT83 Ronnie Wright reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15744029, 25557232; Phenotypes: Monilethrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v3.8 KRT86 Ronnie Wright gene: KRT86 was added
gene: KRT86 was added to Ectodermal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715
Phenotypes for gene: KRT86 were set to Monilethrix
Penetrance for gene: KRT86 were set to Incomplete
Review for gene: KRT86 was set to GREEN
Added comment: We've had clinician enquiries in North West GLH about Keratin Genes associated with Monilethrix (see also KRT81 and KRT83) not being present in Ectodermal dysplasia panel. It may be worth reviewing the evidence for all 3 of these genes. There are few publications for KRT81 and KRT83 but I think there are sufficient for KRT86 and for all 3 genes the reported variants seem to be consistent with pathogenic enriched regions in Keratin genes (see PER viewer for whole Keratin gene family https://per.broadinstitute.org/).
Sources: NHS GMS
Retinal disorders v4.24 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 26056285, 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 MIR204 Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 PFKM Achchuthan Shanmugasundram commented on gene: PFKM
Structural eye disease v3.4 GDF3 Hannah Knight reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29260090; Phenotypes: Klippel-Feil Syndrome 3, Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.4 EPHA2 Hannah Knight reviewed gene: EPHA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35918037; Phenotypes: Bilateral microphthalmia, microcornea, congenital cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple exostoses v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
POLG-related disorder v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
POLG-related disorder v1.0 Sarah Leigh promoted panel to version 1.0
POLG-related disorder v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Phenylketonuria v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Phenylketonuria v1.0 Sarah Leigh promoted panel to version 1.0
Phenylketonuria v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Peutz Jeghers Syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Peutz Jeghers Syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Peutz Jeghers Syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Nijmegen breakage syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Nijmegen breakage syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Nijmegen breakage syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Niemann-Pick disease type A or B v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Niemann-Pick disease type A or B v1.0 Sarah Leigh promoted panel to version 1.0
Niemann-Pick disease type A or B v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Niemann Pick disease type C v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Niemann Pick disease type C v1.0 Sarah Leigh promoted panel to version 1.0
Niemann Pick disease type C v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Krabbe disease - Saposin A deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - Saposin A deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Neutropaenia consistent with ELANE mutations v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - Saposin A deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neutropaenia consistent with ELANE mutations v1.0 Sarah Leigh promoted panel to version 1.0
Neutropaenia consistent with ELANE mutations v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Krabbe disease - GALC deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - GALC deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Neuronal ceroid lipofuscinosis type 2 v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Krabbe disease - GALC deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neuronal ceroid lipofuscinosis type 2 v1.0 Sarah Leigh promoted panel to version 1.0
Neuronal ceroid lipofuscinosis type 2 v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Neurofibromatosis type 1 (GMS) v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Neurofibromatosis type 1 (GMS) v1.0 Sarah Leigh promoted panel to version 1.0
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v1.0 Eleanor Williams promoted panel to version 1.0
Neurofibromatosis type 1 (GMS) v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Neonatal diabetes - small panel v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Neonatal diabetes - small panel v1.0 Sarah Leigh promoted panel to version 1.0
Neonatal diabetes - small panel v0.4 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v1.0 Eleanor Williams promoted panel to version 1.0
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
NARP syndrome or maternally inherited Leigh syndrome v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
NARP syndrome or maternally inherited Leigh syndrome v1.0 Sarah Leigh promoted panel to version 1.0
Inherited parathyroid cancer v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
NARP syndrome or maternally inherited Leigh syndrome v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Inherited parathyroid cancer v1.0 Eleanor Williams promoted panel to version 1.0
Inherited parathyroid cancer v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Incontinentia pigmenti v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Incontinentia pigmenti v1.0 Eleanor Williams promoted panel to version 1.0
Incontinentia pigmenti v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Multiple exostoses v1.0 Sarah Leigh promoted panel to version 1.0
Multiple exostoses v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Hirschsprung disease v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Hirschsprung disease v1.0 Eleanor Williams promoted panel to version 1.0
Hirschsprung disease v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Multiple endocrine neoplasia type 2 v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Multiple endocrine neoplasia type 2 v1.0 Sarah Leigh promoted panel to version 1.0
Multiple endocrine neoplasia type 2 v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Hereditary angioedema types I and II v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Hereditary angioedema types I and II v1.0 Eleanor Williams promoted panel to version 1.0
Hereditary angioedema types I and II v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Wiskott-Aldrich syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor II deficiency v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Wiskott-Aldrich syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Mucopolysaccharidosis type VI v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Wiskott-Aldrich syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor II deficiency v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Mucopolysaccharidosis type VI v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type VI v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Factor II deficiency v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Wilson disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Haemophagocytic syndrome with absent XIAP expression v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Wilson disease v1.0 Mafalda Gomes promoted panel to version 1.0
Wilson disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent XIAP expression v1.0 Eleanor Williams promoted panel to version 1.0
Haemophagocytic syndrome with absent XIAP expression v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
von Willebrand disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Facioscapulohumeral muscular dystrophy - extended testing v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
von Willebrand disease v1.0 Mafalda Gomes promoted panel to version 1.0
von Willebrand disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Facioscapulohumeral muscular dystrophy - extended testing v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Facioscapulohumeral muscular dystrophy - extended testing v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IVA v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Von Hippel Lindau syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Von Hippel Lindau syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Mucopolysaccharidosis type IVA v1.0 Sarah Leigh promoted panel to version 1.0
Von Hippel Lindau syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent perforin expression v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IVA v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Haemophagocytic syndrome with absent perforin expression v1.0 Eleanor Williams promoted panel to version 1.0
Variegate porphyria v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Haemophagocytic syndrome with absent perforin expression v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Variegate porphyria v1.0 Mafalda Gomes promoted panel to version 1.0
Variegate porphyria v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Fabry disease v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IIIB v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Van der Woude syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Van der Woude syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Mucopolysaccharidosis type IIIB v1.0 Sarah Leigh promoted panel to version 1.0
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Van der Woude syndrome v0.4 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.0 Eleanor Williams promoted panel to version 1.0
Fabry disease v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Mucopolysaccharidosis type IIIB v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Fabry disease v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Tuberous sclerosis v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Tuberous sclerosis v1.0 Mafalda Gomes promoted panel to version 1.0
Tuberous sclerosis v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Elastin-related phenotypes v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Elastin-related phenotypes v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.0 Eleanor Williams promoted panel to version 1.0
Elastin-related phenotypes v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IIIA v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IIIA v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type IIIA v0.4 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Duchenne or Becker muscular dystrophy v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Duchenne or Becker muscular dystrophy v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Duchenne or Becker muscular dystrophy v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Glycogen storage disease V v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Glycogen storage disease V v1.0 Eleanor Williams promoted panel to version 1.0
Mucopolysaccharidosis type II v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Glycogen storage disease V v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type II v1.0 Sarah Leigh promoted panel to version 1.0
DICER1-related cancer predisposition v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type II v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
DICER1-related cancer predisposition v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
DICER1-related cancer predisposition v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Cystinosis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Cystinosis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Cystinosis v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Glucokinase-related fasting hyperglycaemia v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Glucokinase-related fasting hyperglycaemia v1.0 Eleanor Williams promoted panel to version 1.0
Glucokinase-related fasting hyperglycaemia v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Cystic fibrosis diagnostic test v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Cystic fibrosis diagnostic test v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Cystic fibrosis diagnostic test v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Generalised arterial calcification in infancy v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Generalised arterial calcification in infancy v1.0 Eleanor Williams promoted panel to version 1.0
Generalised arterial calcification in infancy v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Congenital adrenal hyperplasia diagnostic test v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Congenital adrenal hyperplasia diagnostic test v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Congenital adrenal hyperplasia diagnostic test v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mucopolysaccharidosis type IH or S v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Gaucher disease v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mucopolysaccharidosis type IH or S v1.0 Sarah Leigh promoted panel to version 1.0
Mucopolysaccharidosis type IH or S v0.5 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Gaucher disease v1.0 Eleanor Williams promoted panel to version 1.0
Combined vitamin K-dependent clotting factor deficiency v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Gaucher disease v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Combined vitamin K-dependent clotting factor deficiency v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Combined vitamin K-dependent clotting factor deficiency v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Cleidocranial Dysplasia v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Fumarate hydratase-related tumour syndromes v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Cleidocranial Dysplasia v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Fumarate hydratase-related tumour syndromes v1.0 Eleanor Williams promoted panel to version 1.0
Cleidocranial Dysplasia v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Fumarate hydratase-related tumour syndromes v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Mucolipidosis II and III Alpha or Beta v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mucolipidosis II and III Alpha or Beta v1.0 Sarah Leigh promoted panel to version 1.0
Central congenital hypoventilation v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Mucolipidosis II and III Alpha or Beta v0.5 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Central congenital hypoventilation v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Central congenital hypoventilation v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Familial tumours of the nervous system v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Monitoring for G(M)CSF escape mutations v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Familial tumours of the nervous system v1.0 Eleanor Williams promoted panel to version 1.0
Carney complex v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Carney complex v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Monitoring for G(M)CSF escape mutations v1.0 Sarah Leigh promoted panel to version 1.0
Carney complex v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Monitoring for G(M)CSF escape mutations v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Familial tumours of the nervous system v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Thiamine metabolism dysfunction syndrome 2 v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Calcium-sensing receptor phenotypes v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Thiamine metabolism dysfunction syndrome 2 v1.0 Mafalda Gomes promoted panel to version 1.0
Thiamine metabolism dysfunction syndrome 2 v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Calcium-sensing receptor phenotypes v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Calcium-sensing receptor phenotypes v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial neurogastrointestinal encephalopathy v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Mitochondrial neurogastrointestinal encephalopathy v1.0 Sarah Leigh promoted panel to version 1.0
Mitochondrial neurogastrointestinal encephalopathy v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
CADASIL v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
CADASIL v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
CADASIL v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial Complex V deficiency, TMEM70 type v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Thanatophoric dysplasia v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Familial dysalbuminaemic hyperthyroxinaemia v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Mitochondrial Complex V deficiency, TMEM70 type v1.0 Sarah Leigh promoted panel to version 1.0
Blepharophimosis ptosis and epicanthus inversus v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Familial dysalbuminaemic hyperthyroxinaemia v1.0 Eleanor Williams promoted panel to version 1.0
Mitochondrial Complex V deficiency, TMEM70 type v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Blepharophimosis ptosis and epicanthus inversus v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Thanatophoric dysplasia v1.0 Mafalda Gomes promoted panel to version 1.0
Thanatophoric dysplasia v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Blepharophimosis ptosis and epicanthus inversus v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Familial dysalbuminaemic hyperthyroxinaemia v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Beckwith-Wiedemann syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Beckwith-Wiedemann syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Factor XIII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Beckwith-Wiedemann syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor XIII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor XIII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Barth syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Sickle cell, thalassaemia and other haemoglobinopathies v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Sickle cell, thalassaemia and other haemoglobinopathies v1.0 Mafalda Gomes promoted panel to version 1.0
Sickle cell, thalassaemia and other haemoglobinopathies v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Barth syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Barth syndrome v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lysosomal acid lipase deficiency v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Lysosomal acid lipase deficiency v1.0 Sarah Leigh promoted panel to version 1.0
Lysosomal acid lipase deficiency v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
BAP1 associated tumour predisposition syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
BAP1 associated tumour predisposition syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Tay-Sachs disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
BAP1 associated tumour predisposition syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Tay-Sachs disease v1.0 Mafalda Gomes promoted panel to version 1.0
Tay-Sachs disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Syndromic and non syndromic craniosynostosis involving midline sutures v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Autoimmune Polyendocrine Syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Syndromic and non syndromic craniosynostosis involving midline sutures v1.0 Mafalda Gomes promoted panel to version 1.0
Syndromic and non syndromic craniosynostosis involving midline sutures v0.4 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Autoimmune Polyendocrine Syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Autoimmune Polyendocrine Syndrome v0.4 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lymphoproliferative syndrome with absent SAP expression v1.1 Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v1.0 Mafalda Gomes promoted panel to version 1.0
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor XI deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Lymphoproliferative syndrome with absent SAP expression v1.0 Sarah Leigh promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Spinal muscular atrophy type 1 rare mutation testing v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor XI deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Autoimmune lymphoproliferative syndrome with defective apoptosis v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Spinal muscular atrophy type 1 rare mutation testing v1.0 Mafalda Gomes promoted panel to version 1.0
Factor XI deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Spinal muscular atrophy type 1 rare mutation testing v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Smith-Lemli-Opitz syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Smith-Lemli-Opitz syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
Smith-Lemli-Opitz syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor X deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Factor X deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor X deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Sitosterolaemia v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Ataxia telangiectasia - mutation testing v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Sitosterolaemia v1.0 Mafalda Gomes promoted panel to version 1.0
Sitosterolaemia v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Ataxia telangiectasia - mutation testing v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Ataxia telangiectasia - mutation testing v0.9 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Lymphoproliferative syndrome with absent SAP expression v0.4 Sarah Leigh Panel version 0.3 has been signed off on 2023-09-14
APC associated Polyposis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Short stature - SHOX deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
APC associated Polyposis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Short stature - SHOX deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Short stature - SHOX deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
APC associated Polyposis v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Severe combined immunodeficiency with PNP deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Severe combined immunodeficiency with PNP deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Severe combined immunodeficiency with PNP deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alveolar capillary dysplasia with misalignment of pulmonary veins v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Severe combined immunodeficiency with adenosine deaminase deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Alveolar capillary dysplasia with misalignment of pulmonary veins v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Severe combined immunodeficiency with adenosine deaminase deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
Severe combined immunodeficiency with adenosine deaminase deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alveolar capillary dysplasia with misalignment of pulmonary veins v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor VIII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Segmental or atypical neurofibromatosis type 1 testing v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor VIII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Segmental or atypical neurofibromatosis type 1 testing v1.0 Mafalda Gomes promoted panel to version 1.0
Segmental or atypical neurofibromatosis type 1 testing v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor VIII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Alstrom syndrome v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
SCID with features of gamma chain deficiency v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Alstrom syndrome v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
SCID with features of gamma chain deficiency v1.0 Mafalda Gomes promoted panel to version 1.0
SCID with features of gamma chain deficiency v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Alstrom syndrome v0.8 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Sandhoff disease v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Sandhoff disease v1.0 Mafalda Gomes promoted panel to version 1.0
Sandhoff disease v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor VII deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Lymphoproliferative syndrome with absent SAP expression v0.3 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Retinoblastoma v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Factor VII deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Retinoblastoma v1.0 Mafalda Gomes promoted panel to version 1.0
Retinoblastoma v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Factor VII deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Pulmonary alveolar microlithiasis v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Pulmonary alveolar microlithiasis v1.0 Mafalda Gomes promoted panel to version 1.0
Pulmonary alveolar microlithiasis v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Factor V deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
PTEN Hamartoma Tumour Syndrome v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Agammaglobulinaemia with absent BTK expression v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
PTEN Hamartoma Tumour Syndrome v1.0 Mafalda Gomes promoted panel to version 1.0
PTEN Hamartoma Tumour Syndrome v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor V deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Factor V deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Agammaglobulinaemia with absent BTK expression v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Agammaglobulinaemia with absent BTK expression v0.9 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Pseudoxanthoma elasticum v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Pseudoxanthoma elasticum v1.0 Mafalda Gomes promoted panel to version 1.0
Pseudoxanthoma elasticum v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Factor IX deficiency v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Acute intermittent porphyria v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Factor IX deficiency v1.0 Eleanor Williams promoted panel to version 1.0
Primary hyperaldosteronism - KCNJ5 v1.1 Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14
Acute intermittent porphyria v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Factor IX deficiency v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Primary hyperaldosteronism - KCNJ5 v1.0 Mafalda Gomes promoted panel to version 1.0
Primary hyperaldosteronism - KCNJ5 v0.3 Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off
Acute intermittent porphyria v0.10 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (4 unrelated cases) for this gene to be promoted to green rating in this panel at the next GMS update.
Early onset or syndromic epilepsy v4.101 RAB5C Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram Deleted their review
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.285
Early onset or syndromic epilepsy v4.100 RAB5C Achchuthan Shanmugasundram gene: RAB5C was added
gene: RAB5C was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber
Q3_23_promote_green tags were added to gene: RAB5C.
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.; to: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (12 unrelated cases) for this gene to be promoted to green rating at the next GMS update.
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.
Intellectual disability v5.285 RAB5C Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.284 RAB5C Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: RAB5C.
White matter disorders and cerebral calcification - narrow panel v3.17 ESAM Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM.
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM.
White matter disorders and cerebral calcification - narrow panel v3.17 ESAM Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284
White matter disorders and cerebral calcification - narrow panel v3.17 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature,Expert Review
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM.
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284
Early onset or syndromic epilepsy v4.99 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature,Expert Review
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM.
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Intellectual disability v5.284 ESAM Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses.

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
Intellectual disability v5.274 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663647, 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: U2AF2.
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.274
Early onset or syndromic epilepsy v4.96 U2AF2 Achchuthan Shanmugasundram gene: U2AF2 was added
gene: U2AF2 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: U2AF2.
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Phenotypes for gene: U2AF2 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: U2AF2.
Tag Q3_23_NHS_review tag was added to gene: U2AF2.
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.275 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.274 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
Intellectual disability v5.273 U2AF2 Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 33057194
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed publications to: 28135719, 31785789, 33057194, 34112922, 36747105, 37092751, 37134193
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
Intellectual disability v5.272 U2AF2 Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.271 U2AF2 Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31785789, 34112922, 36747105, 37092751, 37134193; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NARP syndrome or maternally inherited Leigh syndrome v0.2 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Adult onset dystonia, chorea or related movement disorder v3.13 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Retinal disorders v4.24 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Mitochondrial disorders v4.93 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Likely inborn error of metabolism v4.49 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Undiagnosed metabolic disorders v1.600 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Adult onset neurodegenerative disorder v4.35 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Optic neuropathy v4.11 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Structural basal ganglia disorders v1.38 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v3.1 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Early onset dystonia v1.135 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Leber hereditary optic neuropathy v2.6 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Infantile nystagmus v1.10 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Mitochondrial disorders v4.93 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Likely inborn error of metabolism v4.49 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Undiagnosed metabolic disorders v1.600 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Hereditary ataxia with onset in adulthood v4.22 RFC1 Sarah Leigh Deleted their comment
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Mitochondrial disorders v4.93 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Likely inborn error of metabolism v4.49 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Undiagnosed metabolic disorders v1.600 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Retinal disorders v4.24 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Mitochondrial disorders v4.93 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Intellectual disability v5.271 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Likely inborn error of metabolism v4.49 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.600 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Optic neuropathy v4.11 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Leber hereditary optic neuropathy v2.6 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.600 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Mitochondrial disorders v4.93 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Likely inborn error of metabolism v4.49 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Mitochondrial disorders v4.93 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Likely inborn error of metabolism v4.49 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Undiagnosed metabolic disorders v1.600 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Albinism or congenital nystagmus v3.1 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Infantile nystagmus v1.10 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Adult onset dystonia, chorea or related movement disorder v3.13 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Retinal disorders v4.24 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Mitochondrial disorders v4.93 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Intellectual disability v5.271 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Likely inborn error of metabolism v4.49 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Undiagnosed metabolic disorders v1.600 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Optic neuropathy v4.11 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Structural basal ganglia disorders v1.38 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Leber hereditary optic neuropathy v2.6 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Mitochondrial disorders v4.93 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Likely inborn error of metabolism v4.49 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Undiagnosed metabolic disorders v1.600 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Albinism or congenital nystagmus v3.1 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Sudden death in young people v1.15 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Infantile nystagmus v1.10 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Mitochondrial disorders v4.93 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Early onset or syndromic epilepsy v4.95 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Likely inborn error of metabolism v4.49 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Undiagnosed metabolic disorders v1.600 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Albinism or congenital nystagmus v3.1 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Infantile nystagmus v1.10 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Acute rhabdomyolysis v1.15 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Mitochondrial disorders v4.93 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Likely inborn error of metabolism v4.49 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Undiagnosed metabolic disorders v1.600 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Rhabdomyolysis and metabolic muscle disorders v3.35 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Structural eye disease v3.4 ARHGAP35 Hannah Knight gene: ARHGAP35 was added
gene: ARHGAP35 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to 36450800
Phenotypes for gene: ARHGAP35 were set to Anophthalmia; microphthalmia; coloboma
Review for gene: ARHGAP35 was set to GREEN
Added comment: Novel damaging variants in ARHGAP35 were identified in five individuals with developmental ocular disorders from four families
Family 1 - father and daughter with microphthalmia. c.4251delC p.(Thr1418Argfs*381) shared by both affected individuals. This variant was not present in five unaffected family members: mother, brother, paternal grandmother, and two paternal aunts
Family 2 - simplex case of a boy with corneal opacity with cataract, iris hypoplasia, and glaucoma treated with keratoprostheses. De novo variant identified c.4444delC p.(Gln1482Serfs*317)
Family 3 - simplex case of a boy with bilateral microphthalmia. De novo variant identified c.1849C > T p.(Arg617Ter)
Family 4 - adult male patient with bilateral anophthalmia. Trio exome sequencing identified a novel variant in ARHGAP35, c.4294 T > C p.(Cys1432Arg), inherited from the father, who did not have a MAC phenotype but was reported to wear glasses from a young age with no further details available. Labelled as a VUS
Sources: Literature
Acute rhabdomyolysis v1.15 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Mitochondrial disorders v4.93 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Likely inborn error of metabolism v4.49 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Undiagnosed metabolic disorders v1.600 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Albinism or congenital nystagmus v3.1 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Rhabdomyolysis and metabolic muscle disorders v3.35 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Infantile nystagmus v1.10 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Mitochondrial disorders v4.93 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Likely inborn error of metabolism v4.49 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Undiagnosed metabolic disorders v1.600 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Skeletal muscle channelopathy v3.1 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Paroxysmal central nervous system disorders v3.8 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Skeletal Muscle Channelopathies v1.45 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Structural eye disease v3.4 PDGFRA Hannah Knight gene: PDGFRA was added
gene: PDGFRA was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRA were set to 35034853
Phenotypes for gene: PDGFRA were set to Bilateral chorioretinal coloboma, microphthalmia and global developmental delay
Review for gene: PDGFRA was set to AMBER
Added comment: PMID: 35034853 - patient with bilateral chorioretinal coloboma and microphthalmia as well as global developmental delay with autistic behavior. Heterozygous variant in PDGFRA found - NM_006206.6:c.1295C>T, p.(Thr432Met). Not found in unaffected mother
Knockdown of pdgfaa and pdgfab in zebrafish caused a severe coloboma phenotype
Sources: Literature
Structural eye disease v3.4 CDH4 Hannah Knight gene: CDH4 was added
gene: CDH4 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH4 were set to 35034853
Phenotypes for gene: CDH4 were set to Iris coloboma, intellectual disability, and microcephaly
Review for gene: CDH4 was set to AMBER
Added comment: PMID: 35034853 - patient with an iris coloboma, intellectual disability, and microcephaly. Heterozygous variant in CDH4 found - NM_001794.5:c.1291C>T, p.(Arg431Cys). Not found in unaffected mother
Knockdown of cdh4 in zebrafish led to ocular maldevelopment (as has been previously reported)
Sources: Literature
Hereditary neuropathy or pain disorder v3.56 VWA1 Sarah Leigh Tag STR tag was added to gene: VWA1.
Structural eye disease v3.4 BMPR1B Hannah Knight gene: BMPR1B was added
gene: BMPR1B was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 35034853
Phenotypes for gene: BMPR1B were set to Ocular coloboma
Review for gene: BMPR1B was set to GREEN
Added comment: Four unrelated families with BMPR1B variants reported:
1. Two affected siblings with bilateral optic disc coloboma. Mother confirmed heterozygote - NM_001203.2:c.272G>T, p.(Arg91Ile)
2. Single proband with unilateral right microphthalmia, right dense cataract and persistent hyperplastic primary vitreous. No family history. De novo variant - NM_001203.2:c.1127G>A, p.(Arg376Glu)
3. Patient with bilateral iris and chorioretinal coloboma - c.671G>A, p.(Arg224His)
4. Patient with right iris and bilateral chorioretinal coloboma - c.671G>T, p.(Arg224Leu)
Sources: Literature
Structural eye disease v3.4 ALX1 Hannah Knight reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32914578; Phenotypes: Frontonasal Dysplasia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.4 ANK3 Hannah Knight gene: ANK3 was added
gene: ANK3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK3 were set to 35034853
Phenotypes for gene: ANK3 were set to Ocular coloboma
Review for gene: ANK3 was set to AMBER
Added comment: PMID: 35034853 identified two patients with ocular coloboma, each with a different heterozygous missense mutation in ANK3. In one of these families, the variant was confirmed as de novo. In the other, the unaffected mother was confirmed not to carry it.
Knockdown of ank3a and ank3b in zebrafish resulted in microphthalmia and penetrant coloboma phenotype
Sources: Literature
NARP syndrome or maternally inherited Leigh syndrome v0.2 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary neuropathy or pain disorder v3.56 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Adult onset dystonia, chorea or related movement disorder v3.13 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Retinal disorders v4.24 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary ataxia with onset in adulthood v4.22 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Mitochondrial disorders v4.93 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Intellectual disability v5.271 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary neuropathy v1.472 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Likely inborn error of metabolism v4.49 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Undiagnosed metabolic disorders v1.600 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Adult onset neurodegenerative disorder v4.35 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Skeletal muscle channelopathy v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Optic neuropathy v4.11 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Paroxysmal central nervous system disorders v3.8 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Structural basal ganglia disorders v1.38 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Albinism or congenital nystagmus v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Hereditary ataxia v1.331 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Ataxia and cerebellar anomalies - narrow panel v4.34 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Skeletal Muscle Channelopathies v1.45 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Infantile nystagmus v1.10 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Wiskott-Aldrich syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Wilson disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
von Willebrand disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Von Hippel Lindau syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Variegate porphyria v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Van der Woude syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Tuberous sclerosis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Thiamine metabolism dysfunction syndrome 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Thanatophoric dysplasia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sickle cell, thalassaemia and other haemoglobinopathies v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Tay-Sachs disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Syndromic and non syndromic craniosynostosis involving midline sutures v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Subcutaneous panniculitis T-cell lymphoma (SPTCL) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Spinal muscular atrophy type 1 rare mutation testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Smith-Lemli-Opitz syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sitosterolaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Short stature - SHOX deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Severe combined immunodeficiency with PNP deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Severe combined immunodeficiency with adenosine deaminase deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Segmental or atypical neurofibromatosis type 1 testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
SCID with features of gamma chain deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sandhoff disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Retinoblastoma v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Pulmonary alveolar microlithiasis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
PTEN Hamartoma Tumour Syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Pseudoxanthoma elasticum v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Primary hyperaldosteronism - KCNJ5 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
POLG-related disorder v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Phenylketonuria v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Peutz Jeghers Syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Nijmegen breakage syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Niemann-Pick disease type A or B v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Niemann Pick disease type C v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neutropaenia consistent with ELANE mutations v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neuronal ceroid lipofuscinosis type 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neurofibromatosis type 1 (GMS) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Neonatal diabetes - small panel v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
NARP syndrome or maternally inherited Leigh syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Multiple exostoses v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Multiple endocrine neoplasia type 2 v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type VI v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IVA v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IIIB v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IIIA v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type II v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucopolysaccharidosis type IH or S v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
Mucolipidosis II and III Alpha or Beta v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
Monitoring for G(M)CSF escape mutations v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mitochondrial neurogastrointestinal encephalopathy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Mitochondrial Complex V deficiency, TMEM70 type v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Lysosomal acid lipase deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Lymphoproliferative syndrome with absent SAP expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Krabbe disease - Saposin A deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Krabbe disease - GALC deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Inherited parathyroid cancer v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Incontinentia pigmenti v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Hirschsprung disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Hereditary angioedema types I and II v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Haemophagocytic syndrome with absent XIAP expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Haemophagocytic syndrome with absent perforin expression v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Glycogen storage disease V v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Glucokinase-related fasting hyperglycaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Generalised arterial calcification in infancy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Gaucher disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Fumarate hydratase-related tumour syndromes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Familial tumours of the nervous system v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Familial dysalbuminaemic hyperthyroxinaemia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor XIII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor XI deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor X deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor VIII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor VII deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor V deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor IX deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Factor II deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Facioscapulohumeral muscular dystrophy - extended testing v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Fabry disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Elastin-related phenotypes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Duchenne or Becker muscular dystrophy v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
DICER1-related cancer predisposition v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Cystinosis v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Cystic fibrosis diagnostic test v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Congenital adrenal hyperplasia diagnostic test v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Combined vitamin K-dependent clotting factor deficiency v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Cleidocranial Dysplasia v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Central congenital hypoventilation v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Carney complex v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Calcium-sensing receptor phenotypes v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
CADASIL v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Blepharophimosis ptosis and epicanthus inversus v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Beckwith-Wiedemann syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Barth syndrome v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
BAP1 associated tumour predisposition syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Autoimmune Polyendocrine Syndrome v0.3 Achchuthan Shanmugasundram Panel status changed from internal to public
Autoimmune lymphoproliferative syndrome with defective apoptosis v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Ataxia telangiectasia - mutation testing v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
APC associated Polyposis v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Alveolar capillary dysplasia with misalignment of pulmonary veins v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Alstrom syndrome v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Agammaglobulinaemia with absent BTK expression v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
Acute intermittent porphyria v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Early onset or syndromic epilepsy v4.95 STARD7 Sarah Leigh Tag STR tag was added to gene: STARD7.
Hereditary ataxia with onset in adulthood v4.22 FGF14_GAA Sarah Leigh Phenotypes for STR: FGF14_GAA were changed from Late-onset cerebellar ataxia; Episodic features; Nystagmus; Spinocerebellar ataxia 27B, late-onset, OMIM:620174 to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Hereditary ataxia with onset in adulthood v4.21 FGF14_GAA Sarah Leigh Publications for STR: FGF14_GAA were set to 36516086; 36493768
Corneal dystrophy v3.5 TCF4 Sarah Leigh Deleted their comment
Corneal dystrophy v3.5 TCF4 Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
Early onset or syndromic epilepsy v4.95 SAMD12 Sarah Leigh Publications for gene: SAMD12 were set to 30194086; 29507423; 29939203; 32203200
Intellectual disability v5.271 PPP1R3F Zornitza Stark gene: PPP1R3F was added
gene: PPP1R3F was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: 13 unrelated hemizygous individuals reported with functional evidence
Sources: Literature
Intellectual disability v5.271 RAB5C Zornitza Stark gene: RAB5C was added
gene: RAB5C was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Review for gene: RAB5C was set to GREEN
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Skeletal dysplasia v4.18 AXIN1 Zornitza Stark gene: AXIN1 was added
gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Ichthyosis and erythrokeratoderma v3.3 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Ichthyosis (MONDO#0019269), DBR1-related
Review for gene: DBR1 was set to AMBER
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Paediatric or syndromic cardiomyopathy v3.30 CAP2 Zornitza Stark gene: CAP2 was added
gene: CAP2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four individuals from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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


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

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

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

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

This data has been submitted for publication

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

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

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

16 with a frameshift in trans with a missense variant

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

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

1 homozygous for a commonly recurrent missense variant (C192Y)

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

0 homozygous or compound het for putative null alleles

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature