Childhood onset dystonia, chorea or related movement disorder
Gene: NDUFS8

NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)
EnsemblGeneIds (GRCh38): ENSG00000110717
EnsemblGeneIds (GRCh37): ENSG00000110717
OMIM: 602141, Gene2Phenotype
NDUFS8 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, nuclear type 2, 618222

OMIM

602141

Clinvar variants

Variants in NDUFS8

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to NDUFS8. Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 for gene: NDUFS8

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NDUFS8 was added gene: NDUFS8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFS8 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: NDUFS8