RAG2

recombination activating 2
OMIM: 179616, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red RAG2 in Cataract


Level 2: Ophthalmological disorders
Version 0.374

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green RAG2 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.124

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RAG2 in Mendeliome


    Version 1.2656

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Omenn syndrome MIM# 603554
    • Severe combined immunodeficiency, B cell-negative MIM# 601457
    • Combined cellular and humoral immune defects with granulomas MIM# 233650

    Green RAG2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.121

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Omenn syndrome MIM# 603554
    • Severe combined immunodeficiency, B cell-negative MIM# 601457
    • Combined cellular and humoral immune defects with granulomas MIM# 233650

    Green RAG2 in Severe Combined Immunodeficiency (absent T absent B cells)


    Level 2: Immunological disorders
    Version 1.8

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency, B cell-negative (MIM#601457)

    Green RAG2 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
    • Severe combined immunodeficiency, B cell-negative, 601457 (3)

    Green RAG2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Omenn syndrome

    Green RAG2 in Prepair 1000+


    Level 2: Screening
    Version 2.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, B cell-negative, 601457 (3)

    Green RAG2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BEginNGS
    Phenotypes
    • Omenn syndrome MIM# 603554
    • Severe combined immunodeficiency, B cell-negative MIM# 601457
    • Combined cellular and humoral immune defects with granulomas MIM# 233650
    Tags
    • treatable
    • immunological

    Green RAG2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined cellular and humoral immune defects with granulomas (MIM#233650)
    • Omenn syndrome (MIM#603554)
    • Severe combined immunodeficiency, B cell-negative (MIM#601457)