This Panel is marked as Internal
Congenital anaemias
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
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Details
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- 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 Congenital anaemiaspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 2
Added New Source
GEL ()ERCC4 was added to Congenital anaemiaspanel. Sources: UKGTN
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC4 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen