Skeletal dysplasia
Gene: FAM58A
polydactyly-syndactyly-triphalangism SD gp. Only females reported - ? Lethal in males. At least 3 cases reported; Review on behalf of Tracy LesterCreated: 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
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: GreenCreated: 6 Mar 2019, 11:36 a.m.
added new-gene-name tag, new approved HGNC gene symbol is CCNQCreated: 28 Jul 2017, 8:48 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 28 Jul 2016, 12:38 p.m.
Tier 3Created: 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
Added phenotypes STAR syndrome 300707 for gene: FAM58A
Source NHS GMS was added to FAM58A. 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 Red List (Low Evidence).
Phenotypes for FAM58A were set to STAR syndrome 300707
Mode of inheritance for FAM58A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
FAM58A was added to Unexplained skeletal dysplasiapanel. Sources:
FAM58A was created by sleigh