IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red IL2RG in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, X-linked (300400)
  • Moderate combined immunodeficiency, X-linked (312863)

Green IL2RG in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

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

    Green IL2RG in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined immunodeficiency, X-linked, moderate MIM# 312863
    • Severe combined immunodeficiency, X-linked MIM# 300400
    • recurrent viral/fungal/bacterial infections
    • Low T/NK cells
    • Low Ig levels
    • lymphocytopaenia
    • hypogammaglobulinaemia
    • failure to thrive
    • diarrhoea
    • Pneumonia
    • Thymic hypoplasia

    Green IL2RG in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined immunodeficiency, X-linked, moderate MIM# 312863
    • Severe combined immunodeficiency, X-linked MIM# 300400
    • recurrent viral/fungal/bacterial infections
    • Low T/NK cells
    • Low Ig levels
    • lymphocytopaenia
    • hypogammaglobulinaemia
    • failure to thrive
    • diarrhoea
    • Pneumonia
    • Thymic hypoplasia

    Green IL2RG in Severe Combined Immunodeficiency (absent T present B cells)


    Level 2: Immunological disorders
    Version 1.6

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined immunodeficiency, X-linked, moderate MIM# 312863
    • Severe combined immunodeficiency, X-linked MIM# 300400
    • recurrent viral/fungal/bacterial infections
    • Low T/NK cells
    • Low Ig levels
    • lymphocytopaenia
    • hypogammaglobulinaemia
    • failure to thrive
    • diarrhoea
    • Pneumonia
    • Thymic hypoplasia

    Green IL2RG in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, X-linked, 300400 (3)

    Green IL2RG in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Severe combined immunodeficiency, X-linked

    Green IL2RG in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, X-linked, 300400 (3)

    Green IL2RG in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Severe combined immunodeficiency, X-linked, MIM#312863
    Tags
    • treatable
    • immunological

    Green IL2RG in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency, X-linked, 300400 (3)