Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Dystonia, chorea or related movement disorder, childhood onset v1.217 DHDDS Sarah Leigh commented on gene: DHDDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, childhood onset v1.212 DHDDS Sarah Leigh Tag Q4_21_rating was removed from gene: DHDDS.
Dystonia, chorea or related movement disorder, childhood onset v1.212 DHDDS Sarah Leigh commented on gene: DHDDS
Dystonia, chorea or related movement disorder, childhood onset v1.211 DHDDS Sarah Leigh Source Expert Review Green was added to DHDDS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.166 DHDDS Arina Puzriakova Classified gene: DHDDS as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v1.166 DHDDS Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Dystonia, chorea or related movement disorder, childhood onset v1.166 DHDDS Arina Puzriakova Gene: dhdds has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v1.165 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Dystonia, chorea or related movement disorder, childhood onset v1.164 DHDDS Arina Puzriakova Publications for gene: DHDDS were set to
Dystonia, chorea or related movement disorder, childhood onset v1.163 DHDDS Arina Puzriakova Mode of inheritance for gene: DHDDS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v1.162 DHDDS Arina Puzriakova Tag Q4_21_rating tag was added to gene: DHDDS.
Dystonia, chorea or related movement disorder, childhood onset v1.162 DHDDS Arina Puzriakova reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 32654954, 33798445, 34182312, 34382076, 34504728; Phenotypes: Developmental delay and seizures with or without movement abnormalities, OMIM:617836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHDDS was set to