Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: XPAEnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green and is a confirmed DD gene for Xeroderma pigmentosum, group A. Multiple cases reported - see publications for recent reports.Created: 24 Nov 2016, 4:57 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosa group A
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Xeroderma pigmentosum, group A, 278700
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- Complete
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for XPA were set to 27603812; 27413738; 26743599;26302748
Set publications
Ellen McDonagh (Genomics England Curator)Publications for XPA were set to 27603812; 27413738; 26743599
Set publications
Ellen McDonagh (Genomics England Curator)Publications for XPA were set to 27603812;27413738
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)XPA was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)XPA was created by ellenmcdonagh