This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Xeroderma pigmentosum (A) Basal cell carcinoma
- Squamous cell carcinoma
- Melanoma
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Monogenic hearing loss
- Hereditary neuropathy
- Fetal anomalies
- Structural eye disease
- Intellectual disability
- Childhood solid tumours
- DDG2P
- Hereditary neuropathy or pain disorder
History Filter Activity
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)XPA was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)XPA was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)