GMS Musculoskeletal specialist test group Skeletal dysplasia
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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR. Not listed in SD nososlogy paper. Only 2 cases reported - 3 variants (OMIM). Further 3 cases reported by Boczek et al 2018 - spectrum of phenotypes overlapping with Joubert. Also Cotes et al 2016 and Bachmann-Gadescu et al 2018.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XIV 615948

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Orofaciodigital syndrome XIV 615948

OMIM

615944

Clinvar variants

Variants in C2CD3

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: C2CD3 was added gene: C2CD3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: C2CD3