Skeletal dysplasia
Gene: CC2D2A
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 6 612284
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: CC2D2A; Initial rating suggestion: greenCreated: 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 panelCreated: 11 Jul 2016, 12:18 p.m.
Tier 2Created: 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
Added phenotypes Meckel syndrome 6 612284 for gene: CC2D2A Publications for gene CC2D2A were changed from 18513680; 24706459; 23351400 to 23351400; 24706459; 18513680
Source NHS GMS was added to CC2D2A. 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).
Phenotypes for CC2D2A were set to Meckel syndrome 6 612284
Phenotypes for CC2D2A were set to Meckel syndrome 6 612284
Publications for CC2D2A were set to 18513680; 24706459; 23351400
CC2D2A was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services
Publications for CC2D2A were set to 18513680
Mode of inheritance for CC2D2A was changed to BIALLELIC, autosomal or pseudoautosomal
CC2D2A was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
CC2D2A was added to Unexplained skeletal dysplasiapanel. Sources:
CC2D2A was created by sleigh