Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Dystonia, chorea or related movement disorder, childhood onset v0.258 RNASEH2A Louise Daugherty commented on gene: RNASEH2A
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Classified gene: RNASEH2A as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Requires clinical input to determine whether appropriate to include and promote to Green.
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.1 RNASEH2A Ellen McDonagh Source South West GLH was added to RNASEH2A.
Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to