1. Genes and Genomic Entities
  2. HFE

HFE

hemochromatosis
OMIM: 613609, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Amber HFE in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis 235200
Red HFE in COVID-19 research


Level 2: Viral research
Version 1.142

review Not set
Sources
  • OMIM
Red HFE in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Green HFE in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemochromatosis, 235200
  • {Microvascular complications of diabetes 7}, 612635
  • {Porphyria variegata, susceptibility to}, 176200
  • {Porphyria cutanea tarda, susceptibility to}, 176100
  • {Alzheimer disease, susceptibility to}, 104300
Green HFE in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, OMIM:235200
Red HFE in Hypogonadotropic hypogonadism (GMS)


Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Haemochromatosis type 1 (OMIM 235200)
Green HFE in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemochromatosis 235200
No list HFE in Monogenic diabetes


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • {Alzheimer disease, susceptibility to}, 104300
  • Hemochromatosis, 235200
  • {Microvascular complications of diabetes 7}, 612635
  • {Porphyria variegata, susceptibility to}, 176200
  • {Porphyria cutanea tarda, susceptibility to}, 176100
Tags
  • curated_removed
Green HFE in Iron metabolism disorders - NOT common HFE mutations


Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, OMIM:235200
Red HFE in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Green HFE in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hemochromatosis, OMIM:235200
  • Disorder of iron metabolism
Green HFE in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hemochromatosis, OMIM:235200
    Red HFE in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69

    		review Unknown
    Sources
    • Literature
    Amber HFE in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • MetBioNet
    • MetBioNet
    Phenotypes
    • Hemochromatosis, OMIM:235200
    • Iron overload, liver disease, diabetes, hypogonadism
    • Hypertrophic-hypocontractile cardiomyopathy
    Red HFE in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green HFE in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemochromatosis, 235200