JAK3

Janus kinase 3
OMIM: 600173, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green JAK3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Tags
  • treatable

Green JAK3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
    Tags
    • treatable

    Green JAK3 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
    • SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)

    Green JAK3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • SCID, autosomal recessive, T-negative/B-positive type

    Green JAK3 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)

    Green JAK3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • SCID, autosomal recessive, T-negative/B-positive type, MIM#600802
    Tags
    • treatable
    • immunological

    Green JAK3 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)