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Dystonia, chorea or related movement disorder, adult onset v0.75 QDPR Louise Daugherty Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, adult onset v0.75 QDPR Louise Daugherty Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, adult onset v0.74 QDPR Louise Daugherty Classified gene: QDPR as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, adult onset v0.74 QDPR Louise Daugherty Gene: qdpr has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.50 QDPR Louise Daugherty reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.49 QDPR Emily Jones reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: 10677304, 26919687, 19491146 ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, adult onset v0.48 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Publications for gene QDPR were changed from to 19491146; 26919687; 10677304
Dystonia, chorea or related movement disorder, adult onset v0.47 QDPR Louise Daugherty Source NHS GMS was added to QDPR.
Dystonia, chorea or related movement disorder, adult onset v0.46 QDPR Louise Daugherty Source South West GLH was added to QDPR.
Dystonia, chorea or related movement disorder, adult onset v0.2 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to
Phenotypes for gene: QDPR were set to Dystonia