Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
CYBRD1	gene	CYBRD1	Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service	Metal Metabolism Disorders		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Iron metabolism disease, MONDO:0002279, CYBRD1-related			Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030	15338274;27884173		False	1	0;0;100	0.45	True		ENSG00000071967	ENSG00000071967	HGNC:20797													
FTH1	gene	FTH1	Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service	Metal Metabolism Disorders		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Hemochromatosis, type 5, MIM#	615517"			Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030	11389486		False	1	0;0;100	0.45	True		ENSG00000167996	ENSG00000167996	HGNC:3976													
HEPH	gene	HEPH	Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service	Metal Metabolism Disorders		Metabolic disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Iron metabolism defect			Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030	30182051;30060949		False	1	0;0;100	0.45	True		ENSG00000089472	ENSG00000089472	HGNC:4866													
STEAP3	gene	STEAP3	Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service	Metal Metabolism Disorders		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234			Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030	22031863;25515317;26675350		False	1	0;0;100	0.45	True		ENSG00000115107	ENSG00000115107	HGNC:24592