Adult onset movement disorderGene: NDUFA2
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 RED
Created: 19 Jun 2019, 4:40 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.
PMID 18513682 describes a single patient with Leigh Syndrome (but no mention of dystonia). PMID 28857146 describes a further patient with leukoencephalopathy. PMID 27159321 found a VUS in patient with white matter abnormality
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex I deficiency, nuclear type 13
Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2 Publications for gene NDUFA2 were changed from 18513682 to 28857146; 18513682; 27159321
Source NHS GMS was added to NDUFA2.
Source South West GLH was added to NDUFA2.
gene: NDUFA2 was added gene: NDUFA2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA2 were set to 18513682