RAD50

RAD50 double strand break repair protein
OMIM: 604040, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RAD50 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 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 1.3795

2 reviews 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 1.138

Component of the following Super Panels:

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

    Green RAD50 in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

    0 reviews Unknown
    Sources
    • Literature
    • Expert Review Green
    Tags
    • umccr

    Green RAD50 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews 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 1.86

    1 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 1.481

    1 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 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, MIM# 613078

    Red RAD50 in Ovarian Cancer


    Level 2: Cancer Predisposition
    Version 1.6

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • Familial ovarian cancer, MONDO:0016248
    Tags
    • refuted

    Red RAD50 in Breast Cancer


    Level 2: Cancer Predisposition
    Version 1.18

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • Hereditary breast carcinoma, MONDO:0016419
    Tags
    • refuted