Genes in panel

Adult onset movement disorder

Gene: NDUFS3

Red List (low evidence)

NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)
EnsemblGeneIds (GRCh38): ENSG00000213619
EnsemblGeneIds (GRCh37): ENSG00000213619
OMIM: 603846, Gene2Phenotype
NDUFS3 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

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

Phenotypes
Mitochondrial complex I deficiency, nuclear type 8, 618230

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
OMIM
603846
Clinvar variants
Variants in NDUFS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3 Publications for gene NDUFS3 were changed from to 14729820; 19167255

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NDUFS3.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NDUFS3.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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