Anophthalmia or microphthalmia
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
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- UKGTN
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- Intellectual disability
- Cytopenias and congenital anaemias
- Limb disorders
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC4 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN