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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

definitive gene disease association
childhood onset UV light sensitivity, DNA repair disorder, susceptibility to malignancy, variable phenotype of neurodegeneration
treatment: avoidance of UV light, oral and topical medications for skin, gene therapy work in progress
Created: 4 Oct 2022, 6:23 a.m. | Last Modified: 4 Oct 2022, 6:23 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group A MIM#278700

Created: 4 Oct 2022, 6:23 a.m.
Last Modified: 4 Oct 2022, 6:23 a.m.
Panel version: 0.274

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Xeroderma pigmentosum, group A MIM#278700
Tags
treatable clinical trial
OMIM
611153
Clinvar variants
Variants in XPA
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2022, 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).

6 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Oct 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: XPA. Tag clinical trial tag was added to gene: XPA.

18 Sep 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 gNBS. Sources: BabySeq Category A gene,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