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Severe Paediatric Disorders

Gene: FAM58A

Green List (high evidence)

FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CCNQ; Recommended initial gene rating: Green List (high evidence); Phenotypes: STAR syndrome, 300707 (3); Mode of inheritance: X-linked dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for FAM58A is CCNQ (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:09 a.m. | Last Modified: 17 Feb 2020, 10:09 a.m.
Panel Version: 0.7

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • STAR syndrome, 300707
Tags
new-gene-name
OMIM
300708
Clinvar variants
Variants in FAM58A
Penetrance
None
Publications
Panels with this gene

History