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
-
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- Childhood solid tumours
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Monogenic short stature
- Monogenic hearing loss
- 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
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Limb disorders
- Haematological malignancies for rare disease
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