Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Segmental or atypical neurofibromatosis type 1 testing v0.1 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Segmental or atypical neurofibromatosis type 1 testing v0.1 NF1 Achchuthan Shanmugasundram gene: NF1 was added
gene: NF1 was added to Segmental or atypical neurofibromatosis type 1 testing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown