Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GJA3 | Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.2 | GJA3 | Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |