GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CC2D2A

CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

612284 listed under polydactyly-syndactyly-triphalangism SD gp. 11 cases with the same Finnish mutation have been reported (OMIM). Additional cases with other variants reported by Mougou-Zerelli et al 2009.Variants also associated with COACH syndrome 216360, Joubert syndrome type 9 612285.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 6 612284

Publications

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

Meckel syndrome 6 612284

OMIM

612013

Clinvar variants

Variants in CC2D2A

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: CC2D2A was added gene: CC2D2A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Meckel syndrome 6 612284

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CC2D2A