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Fetal anomalies

Gene: XPA

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 4 Mar 2020, 12:03 a.m. | Last Modified: 23 Feb 2022, 4:43 a.m.
Panel Version: 0.3984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group A, OMIM# 278700

Publications

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID seen as part of the condition.
Created: 4 Dec 2019, 1:03 p.m. | Last Modified: 4 Dec 2019, 1:03 p.m.
Panel Version: 0.312

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group A; OMIM# 278700

Details

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpa has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XPA were changed from XERODERMA PIGMENTOSUM, GROUP A to Xeroderma pigmentosum, group A, OMIM# 278700

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XPA were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A