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Severe Paediatric Disorders

Gene: ERCC4

Green List (high evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 25 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: ERCC4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Fanconi anemia, complementation group Q, 615272 (3) | XFE progeroid syndrome, 610965 (3) | Xeroderma pigmentosum, group F, 278760 (3) | Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • Fanconi anemia, complementation group Q, 615272
  • XFE progeroid syndrome, 610965
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
OMIM
133520
Clinvar variants
Variants in ERCC4
Penetrance
None
Publications
Panels with this gene