Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GLRA1 | Achchuthan Shanmugasundram reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 20631190, 9920650, 32319239, 30109271, 24970905, 28985719, 25036534, 32332682; Phenotypes: GLRA1-related hyperexplexia, biallelic, OMIM:149400, GLRA1-related hyperexplexia, monoallelic, OMIM:149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |