HFE

homeostatic iron regulator
OMIM: 613609, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red HFE in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, MIM# 235200
Green HFE in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, MIM# 235200
Green HFE in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Haemochromatosis, MIM# 235200
Red HFE in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes {Porphyria cutanea tarda, susceptibility to}, 176100 {Porphyria variegata, susceptibility to}, 176200
Green HFE in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes haemochromatosis type 1 MONDO:0021001
Green HFE in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Haemochromatosis, MIM# 235200
Amber HFE in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Amber NHS GMS Phenotypes Hemochromatosis, 235200 Hemochromatosis Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) DCM Haemochromatosis Iron overload, liver disease, diabetes, hypogonadism HCM Hypertrophic-hypocontractile cardiomyopathy
Red HFE in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hemochromatosis
Green HFE in Metal Metabolism Disorders Level 2: Metabolic disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 235200 Hemochromatosis 235200 HEMOCHROMATOSIS, TYPE 1 235200HEMOCHROMATOSIS, TYPE 1 HFE1
Red HFE in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hemochromatosis (MIM#235200)
Red HFE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemochromatosis
Green HFE in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Haemochromatosis, MIM# 235200
Green HFE in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemochromatosis, MIM# 235200