This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: ERCC2
ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Australian Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- COVID-19 research
- Inherited white matter disorders
- Structural eye disease
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Monogenic hearing loss
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: ERCC2 was added gene: ERCC2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ERCC2 was set to Unknown