HJV

hemojuvelin BMP co-receptor
OMIM: 608374, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red HJV in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hemochromatosis, type 2A, MIM# 602390
    Tags
    • new gene name

    Green HJV in Mendeliome


    Version 2.55

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hemochromatosis, type 2A, MIM# 602390
    Tags
    • new gene name

    Red HJV in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 1.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Hemochromatosis, type 2A, 602390
    Tags
    • new gene name

    Green HJV in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemochromatosis, type 2A, 602390 (3)
    Tags
    • new gene name

    Red HJV in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hemochromatosis, type 2A, MIM# 602390
    Tags
    • new gene name

    Red HJV in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Haemochromatosis

    Green HJV in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 1.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • HFE2A
    • 602390 HEMOCHROMATOSIS, TYPE 2A
    • 602390 Hemochromatosis, type 2A

    Green HJV in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Haemochromatosis, type 2A, 602390 (3)

    Red HJV in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Haemochromatosis

    Green HJV in Prepair 500+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Haemochromatosis, type 2A, MIM#602390

    Red HJV in Hypogonadotropic hypogonadism

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hemochromatosis, type 2A, MIM# 602390
    Tags
    • new gene name