Childhood onset dystonia, chorea or related movement disorder
Gene: SC5D

SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 9 panels

1 review

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

Details

Sources

Expert Review Red
London North GLH

OMIM

602286

Clinvar variants

Variants in SC5D

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SC5D was added gene: SC5D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: SC5D was set to

Childhood onset dystonia, chorea or related movement disorder Gene: SC5D