Childhood onset dystonia, chorea or related movement disorder
Gene: CCDC115

CCDC115 (coiled-coil domain containing 115)
EnsemblGeneIds (GRCh38): ENSG00000136710
EnsemblGeneIds (GRCh37): ENSG00000136710
OMIM: 613734, Gene2Phenotype
CCDC115 is in 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC115 is VMA22.
Created: 12 Mar 2025, 2:40 p.m. | Last Modified: 12 Mar 2025, 2:40 p.m.

Panel Version: 6.5

Created: 12 Mar 2025, 2:40 p.m.
Last Modified: 12 Mar 2025, 2:40 p.m.
Panel version: 6.5

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

Red List (low evidence)

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

Sources

Expert Review Red
London North GLH

Tags

new-gene-name

OMIM

613734

Clinvar variants

Variants in CCDC115

Penetrance

None

Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC115.

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CCDC115 was added gene: CCDC115 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CCDC115 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: CCDC115