Skeletal dysplasia
Gene: C21orf2
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylometaphyseal dysplasia, axial 602271
Publications
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Added new-gene-name tag, new approved HGNC gene symbol is CFAP410Created: 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.
Tier 1Created: 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
Added phenotypes Spondylometaphyseal dysplasia, axial 602271 for gene: C21orf2
Source NHS GMS was added to C21orf2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271
Phenotypes for C21orf2 were set to Axial Spondylometaphyseal Dysplasia
Mode of inheritance for C21orf2 was changed to BIALLELIC, autosomal or pseudoautosomal
C21orf2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Literature
Publications for C21orf2 were set to 26974433
C21orf2 was added to Unexplained skeletal dysplasiapanel. Sources:
C21orf2 was created by sleigh