1. Genes and Genomic Entities
  2. RAD50

RAD50

RAD50 double strand break repair protein
OMIM: 604040, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red RAD50 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nijmegen breakage syndrome-like disorder, OMIM:613078
  • Bone marrow failure
  • Immunodeficiency
Green RAD50 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nijmegen breakage syndrome-like disorder, OMIM:613078
Green RAD50 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nijmegen breakage syndrome-like disorder, OMIM:613078
  • MONDO:0013118
Red RAD50 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078
    Red RAD50 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Nijmegen breakage syndrome-like disorder, OMIM:613078