PanelApp (staging)
  1. Genes and Genomic Entities
  2. IL7R

IL7R

interleukin 7 receptor
OMIM: 146661, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green IL7R in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • severe combined immunodeficiency 104 MIM#608971

Green IL7R in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • severe combined immunodeficiency 104 MIM#608971

    Green IL7R in Severe Combined Immunodeficiency (absent T present B cells)


    Level 2: Immunological disorders
    Version 1.9

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • severe combined immunodeficiency 104 MIM#608971

    Green IL7R in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)

    Green IL7R in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971

    Green IL7R in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • severe combined immunodeficiency 104 MIM#608971

    Green IL7R in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
    Tags
    • treatable
    • immunological

    Green IL7R in Prepair 500+


    Level 2: Screening
    Version 1.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • severe combined immunodeficiency 104 MIM#608971