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Dystonia, chorea or related movement disorder, adult onset v1.92 THAP1 Arina Puzriakova Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, OMIM:602629
Dystonia, chorea or related movement disorder, adult onset v0.54 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.53 THAP1 James Polke reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.52 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Dystonia, chorea or related movement disorder, adult onset v0.51 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Dystonia, chorea or related movement disorder, adult onset v0.2 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia