Pigmentary skin disorders
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
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
- XPF
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Haematological malignancies cancer susceptibility
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Monogenic hearing loss
- COVID-19 research
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Structural eye disease
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF for gene: ERCC4 Publications for gene ERCC4 were changed from to 8797827
2 Dec 2019, Gel status: 3
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to ERCC4. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: ERCC4 was added gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal