Dystonia, chorea or related movement disorder, childhood onset
Gene: NDUFA10

NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 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

Leigh syndrome 256000

OMIM

603835

Clinvar variants

Variants in NDUFA10

Penetrance

None

Publications

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 NDUFA10. Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome 256000 for gene: NDUFA10 Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NDUFA10 was added gene: NDUFA10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFA10 was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: NDUFA10