Adult onset dystonia, chorea or related movement disorder
Gene: IPPK
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:24 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Unable to find any evidence that this gene is associated with disease.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to IPPK.
Source South West GLH was added to IPPK.
gene: IPPK was added gene: IPPK was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IPPK were set to Early Onset Complex Disease