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
ALAD	gene	ALAD	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Porphyria, acute hepatic OMIM:612740;porphyria due to ALA dehydratase deficiency MONDO:0013000				27604308;15303011		False	3	100;0;0	1.35	True		ENSG00000148218	ENSG00000148218	HGNC:395													
ALAS2	gene	ALAS2	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Protoporphyria, erythropoietic, X-linked, OMIM:300752				18760763;23263862		False	3	100;0;0	1.35	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000158578	ENSG00000158578	HGNC:397													
CPOX	gene	CPOX	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892				6886003;7757079;8012360;9454777;10505225;11309681;11074238;16159891;21103937;23236641;30828546;33008663;40296768		False	3	100;0;0	1.35	True		ENSG00000080819	ENSG00000080819	HGNC:2321													
FECH	gene	FECH	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Protoporphyria, erythropoietic,1 OMIM:177000;protoporphyria, erythropoietic, 1 MONDO:0008319				7857832;16911284;39969427;32873934;38940544;11753383;16385445		False	3	100;0;0	1.35	True		ENSG00000066926	ENSG00000066926	HGNC:3647													
HMBS	gene	HMBS	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Porphyria, acute intermittent OMIM:176000;acute intermittent porphyria MONDO:0008294;Leukoencephalopathy, porphyria-related OMIM:620711;leukoencephalopathy, porphyria-related, MONDO:0958226;Encephalopathy, porphyria-related, OMIM:620704;encephalopathy, porphyria-related, MONDO:0958224				27604308;2511016;1714233;37540847;14262853;1577472;15534187;14970743;27558376;31153822;34089223		False	3	50;0;50	1.35	True		ENSG00000256269	ENSG00000256269	HGNC:4982													
PPOX	gene	PPOX	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297				9811936;10486317;19460837;33159949;35584894;37879139;38940544;40114189		False	3	100;0;0	1.35	True		ENSG00000143224	ENSG00000143224	HGNC:9280													
UROD	gene	UROD	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porphyria cutanea tarda OMIM:176100;Porphyria, hepatoerythropoietic OMIM:176100;familial porphyria cutanea tarda MONDO:0008296				27604308;9792863		False	3	100;0;0	1.35	True		ENSG00000126088	ENSG00000126088	HGNC:12591													
UROS	gene	UROS	Expert Review Green;NHS GMS;Other	Non-acute porphyrias		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Porphyria, congenital erythropoietic OMIM:263700;cutaneous porphyria MONDO:0009902				27604308;8829650		False	3	100;0;0	1.35	True		ENSG00000188690	ENSG00000188690	HGNC:12592													
GATA1	gene	GATA1	Expert Review Amber;NHS GMS	Non-acute porphyrias		Gastrohepatology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367;thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308				25251786;17148589		False	2	50;50;0	1.35	True		ENSG00000102145	ENSG00000102145	HGNC:4170