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Limb disorders

Gene: FAM58A

Green List (high evidence)

FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 6 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

This gene has a new HGNC-approved symbol CCNQ, however is still FAM58A in Ensembl.
Created: 17 Nov 2017, 5:54 p.m.

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is CCNQ
Created: 28 Jul 2017, 8:48 a.m.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • STAR syndrome, 300707
Tags
new-gene-name
OMIM
300708
Clinvar variants
Variants in FAM58A
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM58A were set to STAR syndrome, 300707

5 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FAM58A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FAM58A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FAM58A was created by Ellen McDonagh