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 Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes 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 300752" Cutaneous photosensitivity;HP:0000992 PMID: 25615817 False 3 100;0;0 1.8 True Other ENSG00000158578 ENSG00000158578 HGNC:397 BLM gene BLM Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000197299 ENSG00000197299 HGNC:1058 CPOX gene CPOX Expert list;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria 121300;Harderoporphyria 618892 Cutaneous photosensitivity;HP:0000992 30828546;28349448;23582006;24156084 False 3 100;0;0 1.8 True ENSG00000080819 ENSG00000080819 HGNC:2321 DDB2 gene DDB2 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000134574 ENSG00000134574 HGNC:2718 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM# 270400 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000172893 ENSG00000172893 HGNC:2860 ERCC1 gene ERCC1 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, MIM# 610758 Cutaneous photosensitivity;HP:0000992 17273966;23623389;32557569;26085086;33315086 False 3 100;0;0 1.8 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive, MIM#601675 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, MIM# 616390;Xeroderma pigmentosum, group B 61, MIM#0651 Cutaneous photosensitivity;HP:0000992 2167179;10447254;16947863;9012405;32557569;27004399 False 3 100;0;0 1.8 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group Q, MIM# 615272;MONDO:0014108;Xeroderma pigmentosum, group F, MIM# 278760;MONDO:0010215;XFE progeroid syndrome, MIM# 610965;MONDO:0012590 Cutaneous photosensitivity;HP:0000992 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 1.8 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 Cutaneous photosensitivity;HP:0000992 7951246;9096355;9096355;24700531;33766032;33219753 False 3 100;0;0 1.8 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 1, MIM# 214150;MONDO:0008955;Cockayne syndrome, type B, MIM# 133540;MONDO:0019570;De Sanctis-Cacchione syndrome, MIM# 278800;MONDO:0010217;UV-sensitive syndrome 1, MIM# 600630;MONDO:0010909 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400;MONDO:0019569;UV-sensitive syndrome 2, MIM# 614621;MONDO:0013829 Cutaneous photosensitivity;HP:0000992 7664335;19894250 False 3 100;0;0 1.8 True ENSG00000049167 ENSG00000049167 HGNC:3439 FECH gene FECH Expert list;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Protoporphyria, erythropoietic, 1 177000" Cutaneous photosensitivity;HP:0000992 PMID: 31304091;17875872 False 3 100;0;0 1.8 True ENSG00000066926 ENSG00000066926 HGNC:3647 GTF2H5 gene GTF2H5 Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, MIM# 616395 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000272047 ENSG00000272047 HGNC:21157 POLH gene POLH Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, MIM# 278750;MONDO:0010214 Cutaneous photosensitivity;HP:0000992 False 3 100;0;0 1.8 True ENSG00000170734 ENSG00000170734 HGNC:9181 PPOX gene PPOX Expert Review;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Porphyria variegata (MIM#176200)" Cutaneous photosensitivity;HP:0000992 12357337;32247286;23324528;9811936;11286631;33159949 False 3 100;0;0 1.8 True ENSG00000143224 ENSG00000143224 HGNC:9280 RECQL4 gene RECQL4 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Rothmund-Thomson syndrome, type 2, (MIM#268400)" Cutaneous photosensitivity;HP:0000992 12838562;10319867;20503338;18716613;18616953;12952869;15964893 False 3 100;0;0 1.8 True ENSG00000160957 ENSG00000160957 HGNC:9949 UROD gene UROD Expert Review;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Porphyria cutanea tarda;Porphyria, hepatoerythropoietic (MIM#176100) Cutaneous photosensitivity;HP:0000992 23545314;30514647 False 3 100;0;0 1.8 True ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic (MIM#263700) Cutaneous photosensitivity;HP:0000992 28334762;27512208 False 3 100;0;0 1.8 True ENSG00000188690 ENSG00000188690 HGNC:12592 UVSSA gene UVSSA Expert Review;Expert Review Green Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal UV-sensitive syndrome 3 (MIM#614640) Cutaneous photosensitivity;HP:0000992 31421932 False 3 100;0;0 1.8 True ENSG00000163945 ENSG00000163945 HGNC:29304 XPA gene XPA Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A , MIM#278700;MONDO:0010210 Cutaneous photosensitivity;HP:0000992 2234061;1372102 False 3 100;0;0 1.8 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Victorian Clinical Genetics Services Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, MIM# 278720;MONDO:0010211 Cutaneous photosensitivity;HP:0000992 10447254 False 3 100;0;0 1.8 True ENSG00000154767 ENSG00000154767 HGNC:12816 DNA2 gene DNA2 Expert Review Amber;Literature Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Cutaneous photosensitivity;HP:0000992 37055165 False 2 0;100;0 1.8 True ENSG00000138346 ENSG00000138346 HGNC:2939 GATA1 gene GATA1 Expert list;Expert Review Amber Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Erythropoietic porphyria Cutaneous photosensitivity;HP:0000992 PMID: 17148589;25251786 False 2 0;100;0 1.8 True ENSG00000102145 ENSG00000102145 HGNC:4170 RECQL gene RECQL Expert Review Amber;Literature Photosensitivity Syndromes Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Photosensitivity;facial dysmorphism;xeropthalmia;skeletal abnormalities Cutaneous photosensitivity;HP:0000992 PMID: 35025765 False 2 0;100;0 1.8 True ENSG00000004700 ENSG00000004700 HGNC:9948