This Panel is marked as Internal
Newborns additional phenotypes panel 1
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
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
ERCC4 curation results (clinicalgenome.org)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Xeroderma pigmentosum, group F
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Cytopenias and congenital anaemias
- COVID-19 research
- Severe microcephaly
- Hereditary ataxia with onset in adulthood
- Neurofibromatosis Type 1
- Structural eye disease
- Childhood solid tumours
- Monogenic hearing loss
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- Confirmed Fanconi anaemia or Bloom syndrome
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Fetal anomalies
- DDG2P
History Filter Activity
14 Sep 2023, Gel status: 3
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Xeroderma pigmentosum, group F for gene: ERCC4
5 Jul 2023, Gel status: 3
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to ERCC4. Added phenotypes Xeroderma pigmentosum, group F for gene: ERCC4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
31 May 2023, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: ERCC4 was added gene: ERCC4 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F