Childhood solid tumours
Gene: XPAEnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels
2 reviews
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, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma Pigmentosa
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- 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
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Hereditary neuropathy or pain disorder
- DDG2P
- Structural eye disease
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to XPA. Source NHS GMS was added to XPA. Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA Publications for gene XPA were changed from to 21097776; 26975629; 30565713; 26884178 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: XPA was added gene: XPA was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: XPA was set to