Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes Tag Q3_22_rating was removed from gene: TAF8.
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes commented on gene: TAF8: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.8 TAF8 Mafalda Gomes Source Expert Review Green was added to TAF8.
Source NHS GMS was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.145 TAF8 Arina Puzriakova Entity copied from Intellectual disability v3.1656
Childhood onset hereditary spastic paraplegia v2.145 TAF8 Arina Puzriakova gene: TAF8 was added
gene: TAF8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber
Q3_22_rating tags were added to gene: TAF8.
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 29648665; 35759269
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Penetrance for gene: TAF8 were set to unknown