HFE2

hemochromatosis type 2 (juvenile)
OMIM: 608374, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 2.58 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 3.77 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