Monogenic hearing loss
Gene: XPA

XPA (XPA, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 13 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 10:28 a.m. | Last Modified: 12 Dec 2025, 10:28 a.m.

Panel Version: 5.49

Created: 12 Dec 2025, 10:28 a.m.
Last Modified: 12 Dec 2025, 10:28 a.m.
Panel version: 5.49

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39621777 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 11 Mar 2025, 5:12 p.m. | Last Modified: 11 Mar 2025, 5:12 p.m.

Panel Version: 4.75

PMID: 39621777 reports 16 XPA variants in 18 patients with Xeroderma pigmentosum, group A (OMIM:278700). Amongst the cohort, the authors were able to classify the patients into three severity groups based on the extent of their neurological abnormalities at age 10 years. There were 8 severe, 6 intermediate and 4 mild patients. The severe phenotype included developmental delay and mild to profound hearing loss, and was associated with terminating variants in exons 3 and 5 of XPA, which resulting in undetectable levels of XPA protein.
Created: 11 Mar 2025, 5:11 p.m. | Last Modified: 11 Mar 2025, 5:11 p.m.

Panel Version: 4.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group A, OMIM: 278700

Publications

39621777

Created: 11 Mar 2025, 5:11 p.m.
Last Modified: 11 Mar 2025, 5:11 p.m.
Panel version: 4.74

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278700:Xeroderma pigmentosum, group A[Skin photosensitivity; Early onset skin cancer (basal cell, squamous cell and malignant melanoma); Early freckle-like lesions in exposed areas; Poikiloderma; Increased/decreased skin pigment; Skin atrophy; Telangiectasia; Actinic keratoses; Angiomas; Keratoacanthomas; Photophobia; Conjunctivitis; Keratitis; Ectropion; Entropion; Mental deterioration; Low intelligence; Microcephaly; Sensorineural deafness; Hyporeflexia; Spasticity; Ataxia; Choreoathetosis; Minimal to severe neurologic features; Defective DNA repair after ultraviolet radiation damage]

Publications

Created: 7 Feb 2016, 9:02 a.m.

Panel version: 0.105

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert

Phenotypes

Xeroderma pigmentosum, group A, OMIM: 278700

OMIM

611153

Clinvar variants

Variants in XPA

Penetrance

Complete

Publications

39621777

Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: XPA.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Green was added to XPA. Source NHS GMS was added to XPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Mar 2025, Gel status: 2