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  2. Intellectual_disability
  3. FAM58A
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Intellectual_disability

Gene: FAM58A

Red List (low evidence)
FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels

1 review

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

Panel version: 0.1137

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
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
new-gene-name
OMIM
300708
Clinvar variants
Variants in FAM58A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FAM58A was added to Intellectual_disabilitypanel. Sources: Known gene (Grozeva et al, 2015)