Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Metaphyseal dysplasias v0.0 SRP54 Tiong Tan reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: None; Publications: 29914977; Phenotypes: SBDS-like, severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metaphyseal dysplasias v0.0 SBDS Tiong Tan gene: SBDS was added
gene: SBDS was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400