Adult onset movement disorderGene: NDUFA9
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, 4:41 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 28671271 looks at the 2 patients with Mitochondrial complex I deficiency. Currently insufficient evidence and may be more appropriate on mitochondrial panel
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex I deficiency, nuclear type 26, 618247
Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 22114105 to 28671271; 22114105
Source NHS GMS was added to NDUFA9.
Source South West GLH was added to NDUFA9.
gene: NDUFA9 was added gene: NDUFA9 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA9 were set to 22114105 Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency