Activity

Filter

Cancel
Date Panel Item Activity
4 actions
DDG2P v3.12 KMT2B Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Publications for gene: KMT2B were updated from 27992417; 27839873 to 27839873; 27992417
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 KMT2B Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417; 27839873
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia