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 BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic OMIM:612740;porphyria due to ALA dehydratase deficiency MONDO:0013000 27604308;15303011 False 3 100;0;0 1.24 True ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Green;NHS GMS;Other Non-acute porphyrias 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 1.24 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369 27604308;12227458;8159699;7987309;8990017 False 3 100;0;0 1.24 True ENSG00000080819 ENSG00000080819 HGNC:2321 FECH gene FECH Expert Review Green;NHS GMS;Other Non-acute porphyrias BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic,1 OMIM:177000;protoporphyria, erythropoietic, 1 MONDO:0008319 False 3 100;0;0 1.24 True ENSG00000066926 ENSG00000066926 HGNC:3647 HMBS gene HMBS Expert Review Green;NHS GMS;Other Non-acute porphyrias MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, nonerythroid variant OMIM:176000;Porphyria, acute intermittent OMIM:176000;acute intermittent porphyria MONDO:0008294 27604308;2511016;1714233 False 3 100;0;0 1.24 True ENSG00000256269 ENSG00000256269 HGNC:4982 PPOX gene PPOX Expert Review Green;NHS GMS;Other Non-acute porphyrias BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata OMIM:176200;variegate porphyria MONDO:0008297 27604308;19460837;9811936 False 3 100;0;0 1.24 True ENSG00000143224 ENSG00000143224 HGNC:9280 UROD gene UROD Expert Review Green;NHS GMS;Other Non-acute porphyrias 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 1.24 True ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green;NHS GMS;Other Non-acute porphyrias BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic OMIM:263700;cutaneous porphyria MONDO:0009902 27604308;8829650 False 3 100;0;0 1.24 True ENSG00000188690 ENSG00000188690 HGNC:12592