Haematological malignancies for rare disease
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: BM failure FA, (typ AR)
- Fanconi anemia
- MDS
- AML
- Squamous cell carcinoma: oral, GI, vulvar
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Monogenic short stature
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood solid tumours
- Monogenic hearing loss
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- DDG2P
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- White matter disorders and cerebral calcification - narrow panel
- Limb disorders
- Severe microcephaly
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Fetal anomalies
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)ERCC4 was created by Ellen McDonagh