Childhood onset dystonia, chorea or related movement disorder
Gene: NDUFS4

NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)
EnsemblGeneIds (GRCh38): ENSG00000164258
EnsemblGeneIds (GRCh37): ENSG00000164258
OMIM: 602694, Gene2Phenotype
NDUFS4 is in 15 panels

1 review

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

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Mitochondrial complex I deficiency 252010
Leigh syndrome 256000

OMIM

602694

Clinvar variants

Variants in NDUFS4

Penetrance

None

Publications

24020637

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to NDUFS4. Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome 256000 for gene: NDUFS4 Publications for gene NDUFS4 were changed from to 24020637

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NDUFS4 was added gene: NDUFS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS4 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: NDUFS4