Skeletal dysplasia
Gene: C2CD3
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948
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: C2CD3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 28 Jul 2016, 7:28 a.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Orofaciodigital syndrome XIV 615948 for gene: C2CD3
Source NHS GMS was added to C2CD3. 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).
Mode of inheritance for C2CD3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for C2CD3 were set to Orofaciodigital syndrome XIV 615948
C2CD3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN
C2CD3 was created by sleigh
C2CD3 was added to Unexplained skeletal dysplasiapanel. Sources: