HAMP

hepcidin antimicrobial peptide
OMIM: 606464, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber HAMP in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2B 613313
Green HAMP in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2B 613313
Green HAMP in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2B 613313
Red HAMP in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Haemochromatosis type 2B (OMIM 613313)
Green HAMP in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.97

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 2B 613313
No list HAMP in Monogenic diabetes


Level 2: Endocrinology
Version 3.8
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
  • curated_removed
Green HAMP in Iron metabolism disorders - NOT common HFE mutations


Level 2: Haematology
Version 3.4
Latest signed off version: v3.0 (30 Apr 2025)

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 2B OMIM:613313
Green HAMP in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
  • Hemochromatosis, type 2B 613313
Green HAMP in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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 2B 613313
    • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
    Red HAMP in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

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