This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
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
0 reviews
Details
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- White matter disorders and cerebral calcification - childhood onset
- Radial dysplasia
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Severe microcephaly
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Cytopenias and congenital anaemias
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Neurofibromatosis Type 1
- Fetal anomalies
- Haematological malignancies for rare disease
- Intellectual disability
- Monogenic hearing loss
- Limb disorders
- Structural eye disease
- Childhood solid tumours
- Pigmentary skin disorders
- Hereditary ataxia, adult onset
History Filter Activity
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen