Childhood onset dystonia, chorea or related movement disorder
Gene: C21orf2

C21orf2 (chromosome 21 open reading frame 2)
EnsemblGeneIds (GRCh38): ENSG00000160226
EnsemblGeneIds (GRCh37): ENSG00000160226
OMIM: 603191, Gene2Phenotype
C21orf2 is in 9 panels

2 reviews

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

Red List (low evidence)

Gene name updated from C21orf2 (HGNC)
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

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C21orf2 is CFAP410
Created: 5 Apr 2019, 4:40 p.m.

Created: 5 Apr 2019, 4:40 p.m.

Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.1

Details

Sources

Expert Review Red
London North GLH
Expert Review Red
London North GLH

Tags

new-gene-name

OMIM

603191

Clinvar variants

Variants in C21orf2

Penetrance

None

Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C21orf2.

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: C21orf2 was added gene: C21orf2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: C21orf2 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: C21orf2