Skeletal dysplasia

Gene: FAM58A

Green List (high evidence)

polydactyly-syndactyly-triphalangism SD gp. Only females reported - ? Lethal in males. At least 3 cases reported; Review on behalf of Tracy Lester

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

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
STAR syndrome 300707

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: FAM58A; Initial rating suggestion: Green

Created: 6 Mar 2019, 11:36 a.m.

added new-gene-name tag, new approved HGNC gene symbol is CCNQ

Created: 28 Jul 2017, 8:48 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported

Created: 28 Jul 2016, 12:38 p.m.

Green List (high evidence)

Tier 3

Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
STAR (toe syndactyly, telecanthus, and anogenital and renal malformations) syndrome 300707

Variants in this GENE are reported as part of current diagnostic practice