Skeletal dysplasia

Gene: CCDC8

Green List (high evidence)

listed in Slender bone dysplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-M syndrome 3, 614205

Publications

• 21737058

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: CCDC8; Initial rating suggestion: green

Created: 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 lab

Created: 12 Sep 2018, 4:15 p.m.

Comment on publications: added publication to support gene-disease

Created: 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.

Green List (high evidence)

Tier 1

Created: 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