Limb disordersGene: FAM58A
This gene has a new HGNC-approved symbol CCNQ, however is still FAM58A in Ensembl.
Created: 17 Nov 2017, 5:54 p.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.
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)
STAR (toe syndactyly, telecanthus, and anogenital and renal malformations) syndrome 300707
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Phenotypes for FAM58A were set to STAR syndrome, 300707
Expert Review Green was added to FAM58A. Panel: Limb disorders Model of inheritance for gene FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
London South East RGC GSTT was added to FAM58A. Panel: Limb disorders
FAM58A was added to Limb disorders panel. Sources: Viapath
FAM58A was created by Ellen McDonagh