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 ABCC6 gene ABCC6 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal PSEUDOXANTHOMA ELASTICUM, OMIM:264800;Pseudoxanthoma elasticum, forme fruste, OMIM:177850 10835642 False 2 0;100;0 4.18 False ENSG00000091262 ENSG00000091262 HGNC:57 AGPAT2 gene AGPAT2 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000169692 ENSG00000169692 HGNC:325 ANTXR2 gene ANTXR2 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000163297 ENSG00000163297 HGNC:21732 ATP6V0A2 gene ATP6V0A2 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Amber Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females False 2 0;100;0 4.18 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000123191 ENSG00000123191 HGNC:870 CSTA gene CSTA Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal susceptibility to psoriasis;Exfoliative ichthyosis/acral peeling skin syndrome;susceptility to atopic dermatitis False 2 50;50;0 4.18 False ENSG00000121552 ENSG00000121552 HGNC:2481 CYBB gene CYBB Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Chillblain lupus;Discoid lupus erythematosus False 2 50;50;0 4.18 False ENSG00000165168 ENSG00000165168 HGNC:2578 DCLRE1C gene DCLRE1C Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Omenn syndrome 15731174 False 2 50;50;0 4.18 False ENSG00000152457 ENSG00000152457 HGNC:17642 EFEMP2 gene EFEMP2 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert Review Amber Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.18 False ENSG00000049540 ENSG00000049540 HGNC:3327 FBLN5 gene FBLN5 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal ?Cutis laxa, autosomal dominant 2, OMIM:614434;Cutis laxa, autosomal recessive, type IA, OMIM:219100 False 2 0;100;0 4.18 False ENSG00000140092 ENSG00000140092 HGNC:3602 FGF23 gene FGF23 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.18 False ENSG00000118972 ENSG00000118972 HGNC:3680 FLT4 gene FLT4 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.18 False ENSG00000037280 ENSG00000037280 HGNC:3767 FMO3 gene FMO3 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOXC2 gene FOXC2 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.18 False ENSG00000176692 ENSG00000176692 HGNC:3801 GALNT3 gene GALNT3 Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000115339 ENSG00000115339 HGNC:4125 GGCX gene GGCX Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY 17110937 False 2 0;100;0 4.18 False ENSG00000115486 ENSG00000115486 HGNC:4247 IKBKG gene IKBKG Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti, OMIM:308300 10839543 False 2 50;50;0 4.18 False ENSG00000073009 ENSG00000269335 HGNC:5961 KRT1 gene KRT1 Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis histrix;Palmoplantar keratoderma;Epidermolytic hyperkeratosis False 2 50;50;0 4.18 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Amber;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichythosis with confetti;Pachyonychia congenita;Palmoplantar keratoderma;Epidermolytic hyperkeratosis False 2 50;50;0 4.18 False ENSG00000186395 ENSG00000186395 HGNC:6413 LTV1 gene LTV1 Expert Review Amber;Literature Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 34999892 False 2 0;100;0 4.18 False ENSG00000135521 ENSG00000135521 HGNC:21173 LYST gene LYST Expert Review Amber Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 0;100;0 4.18 False ENSG00000143669 ENSG00000143669 HGNC:1968 MVK gene MVK Expert Review Amber;Literature Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porokeratosis 3, multiple types, OMIM:175900;porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 22983302;26794421;31207227;31753123;39386107 False 2 100;0;0 4.18 False ENSG00000110921 ENSG00000110921 HGNC:7530 PMVK gene PMVK Expert Review Amber;Literature Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porokeratosis 1, multiple types, OMIM:175800;porokeratosis, MONDO:0006602 26202976;27052676;37315547;41296516 False 2 100;0;0 4.18 False ENSG00000163344 ENSG00000163344 HGNC:9141 PSEN1 gene PSEN1 Expert Review;Expert Review Amber Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACNE INVERSA, FAMILIAL, 3;ACNINV3 20929727 False 2 50;50;0 4.18 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSMB10 gene PSMB10 Expert Review Amber;Literature Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 121 with autoinflammation, OMIM:620807;Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 31783057;36250618;37600812;38503300;39734035 False 2 100;0;0 4.18 False ENSG00000205220 ENSG00000205220 HGNC:9538