Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Leukodystrophy - adult onset v0.54 HEXA Zornitza Stark Marked gene: HEXA as ready
Leukodystrophy - adult onset v0.54 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.54 HEXA Zornitza Stark reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tay-Sachs disease, MIM# 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - adult onset v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800