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;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BIALLELIC, autosomal or pseudoautosomal	{Lead poisoning, susceptibility to} 612740;Porphyria, acute hepatic 612740;Acute hepatic porphyria (Acute neuropathic porphyrias)						False	3	100;0;0	3.16	False		ENSG00000148218	ENSG00000148218	HGNC:395													
ALAS2	gene	ALAS2	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	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						False	3	100;0;0	3.16	False		ENSG00000158578	ENSG00000158578	HGNC:397													
ANAPC1	gene	ANAPC1	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368				31303264		False	3	50;50;0	3.16	False		ENSG00000153107	ENSG00000153107	HGNC:19988													
CPOX	gene	CPOX	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892				6886003;7757079;8012360;9454777;10505225;11074238;16159891;21103937;23236641;30828546;33008663;40296768		False	3	100;0;0	3.16	False		ENSG00000080819	ENSG00000080819	HGNC:2321													
FECH	gene	FECH	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	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	3.16	False		ENSG00000066926	ENSG00000066926	HGNC:3647													
GATA1	gene	GATA1	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Congenital erythropoietic porphyria;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367				17148589;25251786		False	3	33;67;0	3.16	False		ENSG00000102145	ENSG00000102145	HGNC:4170													
PPOX	gene	PPOX	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297;variegate porphyria, childhood-onset, MONDO:0957577				10486317;33159949;35584894;37879139;38940544;40114189		False	3	100;0;0	3.16	False		ENSG00000143224	ENSG00000143224	HGNC:9280													
RECQL4	gene	RECQL4	Expert Review Green;Other	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Rothmund-Thomson syndrome, type 2, OMIM:268400				10319867;10678659;11102924;11471165		False	3	0;0;0	3.16	False		ENSG00000160957	ENSG00000160957	HGNC:9949													
UROD	gene	UROD	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)						False	3	100;0;0	3.16	False		ENSG00000126088	ENSG00000126088	HGNC:12591													
UROS	gene	UROS	Expert Review;Expert Review Green	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis);Porphyria, congenital erythropoietic 263700						False	3	100;0;0	3.16	False		ENSG00000188690	ENSG00000188690	HGNC:12592													
UVSSA	gene	UVSSA	Expert Review Green;Other	Cutaneous photosensitivity with a likely genetic cause		Dermatology	BIALLELIC, autosomal or pseudoautosomal	UV-sensitive syndrome 3, 614640				22466610		False	3	0;0;0	3.16	False		ENSG00000163945	ENSG00000163945	HGNC:29304													
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