Childhood onset dystonia, chorea or related movement disorder
Gene: SURF1

SURF1 (SURF1, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 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

Charcot-Marie-Tooth disease, type 4K, 616684
Leigh syndrome, due to COX IV deficiency, 256000

OMIM

185620

Clinvar variants

Variants in SURF1

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 SURF1. Mode of inheritance for gene SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SURF1 was added gene: SURF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SURF1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: SURF1