Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Marked gene: NEFH as ready
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Gene: nefh has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.45 NEFH Zornitza Stark Publications for gene: NEFH were set to
Hereditary Neuropathy_CMT - isolated v0.44 NEFH Zornitza Stark reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30992180, 27040688, 28709447; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.0 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN