| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||