Adult onset dystonia, chorea or related movement disorder
Gene: ATP6AP2
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, 4:17 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.
Single family with PD only.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911
Publications
Added phenotypes ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 for gene: ATP6AP2
Source NHS GMS was added to ATP6AP2.
Source South West GLH was added to ATP6AP2.
gene: ATP6AP2 was added gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 23595882 Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911