XRCC2

X-ray repair cross complementing 2
OMIM: 600375, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber XRCC2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247

Amber XRCC2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247

Red XRCC2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Premature ovarian failure 17, MIM# 619146
  • Spermatogenic failure, MIM# 619145

Green XRCC2 in IBMDx study


Version 1.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • IBMDx Study
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247