This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: XPA
XPA (XPA, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: Binds damaged DNA in preincision complex
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
- Monogenic hearing loss
- Intellectual disability
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: added new-gene-name tag. Appr
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)XPA was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)XPA was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database