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
ALAS2	gene	ALAS2	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Erythropoietic protoporphyria, mild variant	Sun-exposure related conditions	Dermatological disorders	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				PMID: 18760763;23263862		False	3	100;0;0	1.4	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													
FECH	gene	FECH	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Erythropoietic protoporphyria, mild variant	Sun-exposure related conditions	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Erythropoietic Protoporphyria;Protoporphyria, erythropoietic, autosomal recessive, 177000						False	3	100;0;0	1.4	True		ENSG00000066926	ENSG00000066926	HGNC:3647