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Childhood onset dystonia, chorea or related movement disorder v0.257 TAF1 Louise Daugherty commented on gene: TAF1: Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019.
Childhood onset dystonia, chorea or related movement disorder v0.116 TAF1 Louise Daugherty Added comment: Comment on phenotypes: NB: complex mutation
Childhood onset dystonia, chorea or related movement disorder v0.116 TAF1 Louise Daugherty Phenotypes for gene: TAF1 were changed from (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250
Childhood onset dystonia, chorea or related movement disorder v0.1 TAF1 Ellen McDonagh Source South West GLH was added to TAF1.
Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Childhood onset dystonia, chorea or related movement disorder v0.0 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TAF1 was set to