XRCC2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber XRCC2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

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

    Amber XRCC2 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

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

    Amber XRCC2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    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 0.340

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

    Green XRCC2 in IBMDx study


    Version 0.35

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