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Severe Paediatric Disorders

Gene: ERCC6

Green List (high evidence)

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 24 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: ERCC6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebrooculofacioskeletal syndrome 1, 214150 (3) | Cockayne syndrome, type B, 133540 (3) | De Sanctis-Cacchione syndrome, 278800 (3) | Premature ovarian failure 11, 616946 (3) | UV-sensitive syndrome 1, 600630 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant | 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, 214150
  • UV-sensitive syndrome 1, 600630
  • De Sanctis-Cacchione syndrome, 278800
  • Cockayne syndrome, type B, 133540
  • Premature ovarian failure 11, 616946
OMIM
609413
Clinvar variants
Variants in ERCC6
Penetrance
None
Publications
Panels with this gene