Skeletal dysplasia

Gene: CC2D2A

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 6 612284

Publications

• 18513680
• 24706459
• 23351400

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CC2D2A; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in G2P. At least four variants reported in this phenotype.

Created: 11 Jul 2016, 12:19 p.m.

Comment on phenotypes: Variants also reported in COACH syndrome 216360; Joubert syndrome 9 612285, but not relevant to this panel

Created: 11 Jul 2016, 12:18 p.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome 9 612285; Meckel syndrome 6 612284

Variants in this GENE are reported as part of current diagnostic practice