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Childhood onset dystonia, chorea or related movement disorder v2.10 ACER3 Eleanor Williams Tag Q1_22_rating was removed from gene: ACER3.
Childhood onset dystonia, chorea or related movement disorder v2.10 ACER3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v2.10 ACER3 Eleanor Williams reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v2.8 ACER3 Eleanor Williams Source Expert Review Green was added to ACER3.
Source NHS GMS was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v1.218 ACER3 Arina Puzriakova Entity copied from White matter disorders and cerebral calcification - narrow panel v1.227
Childhood onset dystonia, chorea or related movement disorder v1.218 ACER3 Arina Puzriakova gene: ACER3 was added
gene: ACER3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: ACER3.
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 32816236; 34281620
Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762