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 1.3 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 1.3 True ENSG00000066926 ENSG00000066926 HGNC:3647