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Adult onset dystonia, chorea or related movement disorder v1.79 RAB39B Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mental retardation, X-linked 72, OMIM:300271
Adult onset dystonia, chorea or related movement disorder v1.79 RAB39B Arina Puzriakova Phenotypes for gene: RAB39B were changed from Waisman syndrome 311510; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510
Adult onset dystonia, chorea or related movement disorder v0.54 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 RAB39B James Polke reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 RAB39B Louise Daugherty Source NHS GMS was added to RAB39B.
Adult onset dystonia, chorea or related movement disorder v0.51 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset dystonia, chorea or related movement disorder v0.2 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831
Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability