Childhood onset dystonia, chorea or related movement disorder
Gene: C2CD3

C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 12 panels

1 review

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

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

MIM208500)
MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
short-rib polydactyly syndromes (SRPS
?Orofaciodigital syndrome XIV, 615948
Orofaciodigital syndromes (OFDS, MIM 311200)

OMIM

615944

Clinvar variants

Variants in C2CD3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to C2CD3. Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; short-rib polydactyly syndromes (SRPS; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) for gene: C2CD3 Publications for gene C2CD3 were changed from to 26044959; 27094867; 24997988