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Severe Paediatric Disorders

Gene: ERCC5

Green List (high evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 14 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: ERCC5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebrooculofacioskeletal syndrome 3, 616570 (3) | Xeroderma pigmentosum, group G, 278780 (3) | Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3); Mode of inheritance: 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
  • Cerebrooculofacioskeletal syndrome 3, 616570
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
  • Xeroderma pigmentosum, group G, 278780
OMIM
133530
Clinvar variants
Variants in ERCC5
Penetrance
None
Publications
Panels with this gene
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