This Panel is marked as Internal
Non-Fanconi anaemia
Gene: ERCC1
ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Confirmed DD gene for fanconi anemia.Created: 24 Nov 2016, 5:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Fanconi anemia
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Paediatric disorders - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
24 Nov 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to Non-Fanconi anaemiapanel. Sources: Other
24 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC1 was created by ellenmcdonagh