Childhood solid tumours cancer susceptibility
Gene: ERCC1EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma Pigmentosa
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- xeroderma pigmentosum, MONDO:0019600
- hepatorenal syndrome, MONDO:0001382
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Intellectual disability
- Cholestasis
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Renal tubulopathies
- Paediatric disorders - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from xeroderma pigmentosum, MONDO:0019600 to xeroderma pigmentosum, MONDO:0019600; hepatorenal syndrome, MONDO:0001382
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa to xeroderma pigmentosum, MONDO:0019600
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to Childhood solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)ERCC1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to Childhood solid tumourspanel. Sources: Expert list