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| DDG2P v6.365 | SRCAP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRCAP was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SRCAP | Achchuthan Shanmugasundram edited their review of gene: SRCAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related Floating-Harbor syndrome are definitive, monoallelic_autosomal and dominant negative (PMIDs: 22265015, 22965468, 23165645, 23621943, 23763483, 24375913, 25433523, 26788936, 30304910, 30425916, 32924116). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00246. The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related neurodevelopmental disorder are strong, monoallelic_autosomal and loss of function (PMIDs: 33909990, 34213696, 37340855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03152.; Changed publications to: 32924116, 33909990, 26788936, 24375913, 30425916, 22265015, 30304910, 34213696, 22965468, 23165645, 25433523, 23621943, 23763483, 37340855; Changed phenotypes to: MONDO:0007621, SRCAP-related Neurodevelopmental Disorder, SRCAP-related Floating-Harbor syndrome, OMIM:136140.0, SRCAP-related neurodevelopmental disorder, FLOATING-HARBOR SYNDROME, OMIM:136140, MONDO:0859202, OMIM:619595.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRCAP | Achchuthan Shanmugasundram reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909990, 23621943, 30425916, 22265015, 30304910, 24375913, 23763483, 22965468, 23165645, 25433523, 26788936; Phenotypes: FLOATING-HARBOR SYNDROME, OMIM:136140, SRCAP-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2 | SRCAP | Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRCAP were set to 20358590; 22265015 Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140 Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments |
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