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Pigmentary skin disorders

Gene: XRCC2

Amber List (moderate evidence)
XRCC2 (X-ray repair cross complementing 2)
EnsemblGeneIds (GRCh38): ENSG00000196584
EnsemblGeneIds (GRCh37): ENSG00000196584
OMIM: 600375, Gene2Phenotype
XRCC2 is in 7 panels

3 reviews

Veronica Kinsler (UCL)

Green List (high evidence)

This gene is an established cause of Fanconi anaemia. PLEASE NOTE - The original lists for Dermatology-related genes for PanelApp provided by myself and John McGrath and myself and Tom Cullup were extensively researched. It would be very helpful if someone at GEL could review those genes which we rated at Green and have not been included as green on PanelApp due to apparent lack of evidence, as it is likely that clinically-relevant well-established diagnoses are being missed by this panel.
Created: 22 Mar 2026, 1:42 p.m. | Last Modified: 22 Mar 2026, 1:42 p.m.
Panel Version: 4.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia

Publications

Created: 22 Mar 2026, 1:42 p.m.
Last Modified: 22 Mar 2026, 1:42 p.m.
Panel version: 4.13

Tom Cullup (Great Ormond Street Hospital)

I don't know

?Single case in literature. Amber on FA/Bloom syndrome GMS panel
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU

Publications

Created: 12 Dec 2019, 12:23 p.m.
Last Modified: 12 Dec 2019, 12:23 p.m.
Panel version: 0.25

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Created: 2 Dec 2019, 3:48 p.m.
Last Modified: 2 Dec 2019, 3:48 p.m.
Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ?Fanconi anemia, complementation group U, OMIM:617247
  • Fanconi anemia complementation group U, MONDO:0014987
OMIM
600375
Clinvar variants
Variants in XRCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: XRCC2 were set to 22232082

2 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: XRCC2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU to ?Fanconi anemia, complementation group U, OMIM:617247; Fanconi anemia complementation group U, MONDO:0014987

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to XRCC2. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU for gene: XRCC2 Publications for gene XRCC2 were changed from to 22232082 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to XRCC2. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: XRCC2 was added gene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal