Adult onset movement disorderGene: NDUFS3
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 14729820 describes a patient with compound heterozygosity. PMID 19167255 has a heterozygous patient. 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 8, 618230
Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3 Publications for gene NDUFS3 were changed from to 14729820; 19167255
Source NHS GMS was added to NDUFS3.
Source South West GLH was added to NDUFS3.
gene: NDUFS3 was added gene: NDUFS3 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency 256000