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  2. Childhood onset dystonia, chorea or related movement disorder
  3. NDUFS3
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Childhood onset dystonia, chorea or related 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 11 panels

2 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
  • Expert Review Red
  • London North GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
  • Mitochondrial complex I deficiency 252010
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
OMIM
603846
Clinvar variants
Variants in NDUFS3
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to NDUFS3. Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFS3

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to NDUFS3. Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NDUFS3 was added gene: NDUFS3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS3 was set to