HFE

hemochromatosis
OMIM: 613609, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber HFE in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.24	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 1.130	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 1.66	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 1.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, 235200
Red HFE in Hypogonadotropic hypogonadism idiopathic Version 1.54 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 1.78	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 2.50 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 1.35 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 2.275 Latest signed off version: v2.178 (5 Aug 2021)	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 1.542	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 2.263 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 1.60	review	Unknown	Sources Literature
Amber HFE in Cardiomyopathies - including childhood onset Version 1.77 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 1.246 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green HFE in Severe Paediatric Disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hemochromatosis, 235200