Anaemias and red cell disorders
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
2 reviews
Helen Brittain (Genomics England Curator)
Only two unrelated patients with the Fanconi presentation (therefore relevant to this panel) both with compound heterozygous mutations (truncating / missense combination) however paper undertook functional validation including abnormal chromosome breakage but cases were ascertained as having Fanconi for inclusion. Therefore I am not certain this is independent functional evidence.Created: 16 Feb 2017, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q 615272; Xeroderma pigmentosum, group F 278760; Xeroderma pigmentosum, type F/Cockayne syndrome 278760
Publications
- PMID 23623386
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- UKGTN
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- Xeroderma pigmentosum, group F, 278760
- XFE progeroid syndrome, 610965
- Fanconi anemia, complementation group Q, 615272
- Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- Fanconi Anaemia
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- White matter disorders and cerebral calcification - narrow panel
- Cytopenias and congenital anaemias
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- 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
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Upload gene information
Helen Brittain (Genomics England Curator)ERCC4 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Literature
clearsources
Helen Brittain (Genomics England Curator)ERCC4All sources for gene: ERCC4 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Anaemias and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Created
Ellen McDonagh (Genomics England Curator)ERCC4 was created by ellenmcdonagh