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
HMBS	gene	HMBS	Expert Review;Expert Review Amber;NHS GMS	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Porphyria, acute intermittent, OMIM:176000;Porphyria, acute intermittent, nonerythroid variant, OMIM:176000;Leukoencephalopathy, porphyria-related OMIM:620711;leukoencephalopathy, porphyria-related, MONDO:0958226;Encephalopathy, porphyria-related, OMIM:620704;encephalopathy, porphyria-related, MONDO:0958224				6962637;32377710;29731767;25419136;32197664;30071891		False	2	25;50;25	3.16	False		ENSG00000256269	ENSG00000256269	HGNC:4982