JAGN1

jagunal homolog 1
OMIM: 616012, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green JAGN1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022

Green JAGN1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022

Green JAGN1 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.29

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
    • Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022

    Green JAGN1 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
    • Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)

    Amber JAGN1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022)

    Green JAGN1 in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022

    Green JAGN1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)

    Green JAGN1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
    Tags
    • treatable
    • immunological