1. Genes and Genomic Entities
  2. XRCC2

XRCC2

X-ray repair cross complementing 2
OMIM: 600375, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red XRCC2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Breast cancer (Park (2012) Am J Hum Genet 90, 734)
Green XRCC2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
Green XRCC2 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • ?Fanconi anemia, complementation group U, 617247
Red XRCC2 in Inherited ovarian cancer (without breast cancer)


Level 2: Inherited cancer
Version 4.9
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Breast cancer (Park (2012) Am J Hum Genet 90, 734)
Amber XRCC2 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review 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
Green XRCC2 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
Amber XRCC2 in Confirmed Fanconi anaemia or Bloom syndrome


Level 2: Haematology
Version 2.13
Latest signed off version: v2.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • ?Fanconi anemia, complementation group U, OMIM:617247
  • Fanconi anemia complementation group U, MONDO:0014987