Skeletal dysplasia

Gene: C21orf2

Green List (high evidence)

Listed in Spondylometaphyseal dysplasias gp of SD. AR. At least 3 cases reported. Gene also associated with retinal dystrophy with macular staphhyloma. MIM 617547. Previously called C21ORF2; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, axial 602271

Publications

• 26974433

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: CFAP410; Initial rating suggestion: green

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

Added new-gene-name tag, new approved HGNC gene symbol is CFAP410

Created: 31 Jul 2018, 3:29 p.m.

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. At least six variants reported (2016)

Created: 28 Jul 2016, 7:15 a.m.

Green List (high evidence)

Tier 1

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

Mode of inheritance
Unknown

Phenotypes
Wang Z et al. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One. 2016 Mar 14, 11(3)

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