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

HFE

hemochromatosis
OMIM: 613609, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red HFE in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hemochromatosis, MIM# 235200

    Green HFE in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Haemochromatosis, MIM# 235200

    Green HFE in Additional findings_Adult


    Level 2: Screening
    Version 0.169

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Haemochromatosis, MIM# 235200

    Red HFE in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 0.17

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • {Porphyria cutanea tarda, susceptibility to}, 176100
    • {Porphyria variegata, susceptibility to}, 176200

    Green HFE in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.136

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • haemochromatosis type 1 MONDO:0021001

    Amber HFE in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Hemochromatosis, 235200
    • Hemochromatosis
    • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
    • DCM
    • Haemochromatosis
    • Iron overload, liver disease, diabetes, hypogonadism
    • HCM
    • Hypertrophic-hypocontractile cardiomyopathy

    Red HFE in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green HFE in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    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
    • 235200 Hemochromatosis
    • 235200 HEMOCHROMATOSIS, TYPE 1
    • 235200HEMOCHROMATOSIS, TYPE 1
    • HFE1

    Red HFE in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hemochromatosis (MIM#235200)

    Red HFE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

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

    Green HFE in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Haemochromatosis, MIM# 235200