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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 |
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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 |