Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Early-onset Dementia v0.25 TAF15 Bryony Thompson Classified gene: TAF15 as Amber List (moderate evidence)
Early-onset Dementia v0.25 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.12 TAF15 Bryony Thompson gene: TAF15 was added
gene: TAF15 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAF15 were set to 28889094
Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis; Frontotemporal dementia
Review for gene: TAF15 was set to AMBER
Added comment: Two missense variants identified in two unrelated cases with a similar phenotype which included low motor neuron predominant signs, behavioural variant FTD and movement disorders, and in one patient, neuropathology showed a frontotemporal lobar degeneration pattern.
Sources: Expert list