Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | EIF2AK3 | Achchuthan Shanmugasundram reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7551159, 12960215, 16813601, 10932183; Phenotypes: WOLCOTT-RALLISON SYNDROME, OMIM:226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | EIF2AK3 | Achchuthan Shanmugasundram Publications for gene: EIF2AK3 were updated from 16813601; 12960215; 10932183; 7551159 to 7551159; 12960215; 16813601; 10932183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | EIF2AK3 | Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EIF2AK3 |
Rebecca Foulger gene: EIF2AK3 was added gene: EIF2AK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2AK3 were set to 16813601; 12960215; 10932183; 7551159 Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME 226980 |