Structural eye disease
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Xeroderma pigmentosa, some of which have ocular tumors, but no evidence of involvement in structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; 278700
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Xeroderma pigmentosa, some of which have ocular tumors, but no evidence of involvement in structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700
- OMIM
- 611153
- Clinvar variants
- Variants in XPA
- Penetrance
- None
- 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
17 Apr 2019, Gel status: 1
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)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, COMPLEMENTATION GROUP A, 278700 for gene: XPA
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: XPA was added gene: XPA was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: XPA was set to