Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 RBM10 Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.11 RBM10 Achchuthan Shanmugasundram Source Expert Review Green was added to RBM10.
Publications for gene: RBM10 were updated from 20451169; 5410571 to 20451169; 5410571; 30189253; 30450804; 35645043
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 RBM10 Rebecca Foulger reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBM10 were set to 20451169; 5410571
Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900