HFE2

hemochromatosis type 2 (juvenile)
OMIM: 608374, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Amber HFE2 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, type 2A 602390
Tags
  • new-gene-name
Green HFE2 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
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Red HFE2 in Hypogonadotropic hypogonadism

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Hemochromatosis 235200
Tags
  • new-gene-name
Green HFE2 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 Review
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Red HFE2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
  • new-gene-name
  • somatic
No list HFE2 in Monogenic diabetes


Version 2.57
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
  • curated_removed
Green HFE2 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, type 2A OMIM:602390
Tags
  • new-gene-name
Green HFE2 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
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Green HFE2 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, type 2A, 602390
    • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
    Tags
    • new-gene-name
    Red HFE2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green HFE2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemochromatosis, type 2A, 602390
    Tags
    • new-gene-name