HFE

hemochromatosis
OMIM: 613609, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber HFE 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 235200
Red HFE in COVID-19 research Level 2: Viral research Version 1.146	review	Not set	Sources OMIM
Red HFE in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	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 1.68	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 1.42	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, OMIM:235200
Red HFE in Hypogonadotropic hypogonadism (GMS) Level 2: Endocrinology Version 4.7 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 1 (OMIM 235200)
Green HFE 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 list Phenotypes Hemochromatosis 235200
No list HFE in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	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 - 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, OMIM:235200
Red HFE in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hemochromatosis, OMIM:235200 Disorder of iron metabolism
Green HFE 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, OMIM:235200
Red HFE in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	Unknown	Sources Literature
Amber HFE in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS MetBioNet MetBioNet Phenotypes Hemochromatosis, OMIM:235200 Iron overload, liver disease, diabetes, hypogonadism Hypertrophic-hypocontractile cardiomyopathy
Red HFE 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