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 1.17

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 1.77

review Not set
Sources
  • OMIM

Red HFE in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.27

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 1.62

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 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, 235200

Red HFE in Hypogonadotropic hypogonadism idiopathic


Version 1.42
Latest signed off version: v1.4 (4 Mar 2020)

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 1.68

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 2.42
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


Version 1.33
Latest signed off version: v1.2 (3 Mar 2020)

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

Red HFE in Neurodegenerative disorders - adult onset


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

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 1.457

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • Hemochromatosis, 235200

Green HFE in Inborn errors of metabolism


Version 2.134
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hemochromatosis, 235200
    • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)

    Red HFE in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review Unknown
    Sources
    • Literature

    Amber HFE in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Red HFE in Childhood onset dystonia or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green HFE in Severe Paediatric Disorders


    Version 1.77

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