Structural eye disease
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
no evidence of involvement in eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; 278760
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). no evidence of involvement in eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Radial dysplasia
- Limb disorders
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ERCC4. Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760 for gene: ERCC4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: ERCC4 was added gene: ERCC4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC4 was set to