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Prepair 1000+

Gene: XPA

Green List (high evidence)

XPA (XPA, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000136936
EnsemblGeneIds (GRCh37): ENSG00000136936
OMIM: 611153, Gene2Phenotype
XPA is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Progressive photosensitivity disorder.
Created: 31 Dec 2024, 4:54 a.m. | Last Modified: 31 Dec 2024, 4:54 a.m.
Panel Version: 1.981

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group A , MIM#278700

History Filter Activity

31 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpa has been classified as Green List (High Evidence).

31 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Xeroderma pigmentosum, group A, 278700 (3) for gene: XPA

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPA was added gene: XPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)