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Childhood onset dystonia, chorea or related movement disorder v0.256 ARSA Louise Daugherty changed review comment from: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019; to: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple families
Childhood onset dystonia, chorea or related movement disorder v0.256 ARSA Louise Daugherty commented on gene: ARSA
Childhood onset dystonia, chorea or related movement disorder v0.1 ARSA Ellen McDonagh Source South West GLH was added to ARSA.
Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Childhood onset dystonia, chorea or related movement disorder v0.0 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ARSA was set to