This Panel is marked as Internal
Cockayne syndrome
Gene: ERCC4
ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
1 review
Ellen McDonagh (Genomics England Curator)
Two cases reported in OMIM for Xeroderma pigmentosum, type F/Cockayne syndrome, and it is a confirmed DD gene for Xeroderma pigmentosum, group F.Created: 16 Aug 2016, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, type F Cockayne syndrome, 278760
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Xeroderma pigmentosum, type F Cockayne syndrome, 278760
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Hereditary ataxia with onset in adulthood
- Neurofibromatosis Type 1
- Fetal anomalies
- Structural eye disease
- Childhood solid tumours
- Monogenic hearing loss
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic short stature
- Confirmed Fanconi anaemia or Bloom syndrome
- Adult solid tumours cancer susceptibility
- Limb disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
16 Aug 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC4 were set to Xeroderma pigmentosum, type F Cockayne syndrome, 278760
16 Aug 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen
16 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC4 was created by ellenmcdonagh