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
ACVR1	gene	ACVR1	Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	BIALLELIC, autosomal or pseudoautosomal	Fibrodysplasia ossificans progressiva OMIM:135100				28476747		False	1	20;60;20	3.4	False		ENSG00000115170	ENSG00000115170	HGNC:171													
CDAN1	gene	CDAN1	Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	BIALLELIC, autosomal or pseudoautosomal	Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135						False	1	25;25;50	3.4	False		ENSG00000140326	ENSG00000140326	HGNC:1713													
CYBRD1	gene	CYBRD1	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	BIALLELIC, autosomal or pseudoautosomal	hereditary hemochromatosis MONDO:0006507				15338274;27884173;19673882;37632052		False	1	56;11;33	3.4	False		ENSG00000071967	ENSG00000071967	HGNC:20797													
HEPH	gene	HEPH	Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females					30182051;30060949		False	1	50;33;17	3.4	False		ENSG00000089472	ENSG00000089472	HGNC:4866													
SEC23B	gene	SEC23B	Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	BIALLELIC, autosomal or pseudoautosomal	Dyserythropoietic anemia, congenital, type II OMIM:224100;congenital dyserythropoietic anemia type 2 MONDO:0009134						False	1	25;25;50	3.4	False		ENSG00000101310	ENSG00000101310	HGNC:10702													
SERPINA1	gene	SERPINA1	Expert list;Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Iron metabolism disorders - NOT common HFE mutations		Haematology	BIALLELIC, autosomal or pseudoautosomal	Emphysema due to AAT deficiency OMIM:613490;alpha 1-antitrypsin deficiency MONDO:0013282				18210110;27296815		False	1	60;20;20	3.4	False		ENSG00000197249	ENSG00000197249	HGNC:8941