Skeletal dysplasia
Gene: CCDC8
listed in Slender bone dysplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3, 614205
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: CCDC8; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Changed from Red to Green. Sufficient unrelated cases and more than one causative variant, and variants in this gene are currently reported in an external diagnostic labCreated: 12 Sep 2018, 4:15 p.m.
Comment on publications: added publication to support gene-diseaseCreated: 12 Sep 2018, 3:59 p.m.
Comment when marking as ready: Associated with phenotype in G2P. Only two variants reported in this phenotype.Created: 13 Jul 2016, 8:01 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:31 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 3 614205
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 3-M syndrome 3, 614205 for gene: CCDC8
Source NHS GMS was added to CCDC8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: ccdc8 has been classified as Green List (High Evidence).
Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3 614205 to 3-M syndrome 3, 614205
Publications for gene: CCDC8 were set to
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CCDC8 were set to 3-M syndrome 3 614205
Mode of inheritance for CCDC8 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CCDC8 was created by sleigh
CCDC8 was added to Unexplained skeletal dysplasiapanel. Sources: