Adult solid tumours 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
1 review
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Xeroderma pigmentosum associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Xeroderma pigmentosum, group A, 278700
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
2 Aug 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: XPA was added gene: XPA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 21097776; 26975629; 30565713 Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700