RAD50

RAD50 double strand break repair protein
OMIM: 604040, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RAD50 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nijmegen breakage syndrome-like disorder, MIM# 613078
  • MONDO:0013118

Green RAD50 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nijmegen breakage syndrome-like disorder, MIM# 613078
  • MONDO:0013118

Green RAD50 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.115

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, MIM# 613078
    • Hypogammaglobulinaemia

    Green RAD50 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, 613078 (3)

    Green RAD50 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, MIM# 613078
    • MONDO:0013118

    Green RAD50 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, MIM# 613078
    • MONDO:0013118

    Green RAD50 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, 613078 (3)