Adult onset dystonia, chorea or related movement disorder
Gene: RAB39BComment on phenotypes: This gene is also associated with Mental retardation, X-linked 72, OMIM:300271Created: 29 Mar 2021, 3:02 p.m. | Last Modified: 29 Mar 2021, 3:02 p.m.
Panel Version: 1.79
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Phenotypes for gene: RAB39B were changed from Waisman syndrome 311510; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510
Source NHS GMS was added to RAB39B.
Source London North GLH was added to RAB39B.
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