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 ADA2 gene ADA2 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 24552284 False 3 100;0;0 4.18 False ENSG00000093072 ENSG00000093072 HGNC:1839 AIRE gene AIRE Expert Review Green Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 9921903;9398839 False 3 50;50;0 4.18 False ENSG00000160224 ENSG00000160224 HGNC:360 CARD11 gene CARD11 Expert Review;Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 11B with atopic dermatitis, OMIM:617638 28628108 False 3 100;0;0 4.18 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pityriasis rubra pilaris, OMIM:173200;Psoriasis 2, OMIM:602723 22703878;22521418 False 3 100;0;0 4.18 False ENSG00000141527 ENSG00000141527 HGNC:16446 CARD9 gene CARD9 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Deep dermatophytosis, MONDO:0018335 24131138 False 3 100;0;0 4.18 False ENSG00000187796 ENSG00000187796 HGNC:16391 DOCK8 gene DOCK8 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700 19776401 False 3 100;0;0 4.18 False ENSG00000107099 ENSG00000107099 HGNC:19191 ECM1 gene ECM1 Expert Review Green;Other Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Urbach-Wiethe disease, OMIM:247100;lipoid proteinosis, MONDO:0009530 11929856;28720532;33159951 False 3 100;0;0 4.18 False ENSG00000143369 ENSG00000143369 HGNC:3153 EGFR gene EGFR Expert Review Green Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069 24691054;29899996;26436111 False 3 50;50;0 4.18 False ENSG00000146648 ENSG00000146648 HGNC:3236 FDPS gene FDPS Expert Review;Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631 26202976 False 3 100;0;0 4.18 False ENSG00000160752 ENSG00000160752 HGNC:3631 GJA1 gene GJA1 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 25398053 False 3 100;0;0 4.18 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB3 gene GJB3 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 1, OMIM:133200 10798362 False 3 100;0;0 4.18 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 12648223 False 3 100;0;0 4.18 False ENSG00000189433 ENSG00000189433 HGNC:4286 GNB1 gene GNB1 Expert Review Green;Literature;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 42, OMIM:616973;cutaneous mastocytosis, MONDO:0019023 29174093;30194818;35119134 False 3 100;0;0 4.18 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000078369 ENSG00000078369 HGNC:4396 IL1RN gene IL1RN Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852 19494218 False 3 100;0;0 4.18 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL36RN gene IL36RN Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, OMIM:614204 22903787 False 3 100;0;0 4.18 False ENSG00000136695 ENSG00000136695 HGNC:15561 KIT gene KIT Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mastocytosis, cutaneous, OMIM:154800 9990072 False 3 100;0;0 4.18 False ENSG00000157404 ENSG00000157404 HGNC:6342 MVD gene MVD Expert Review;Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porokeratosis 7, multiple types, OMIM:614714 26202976 False 3 100;0;0 4.18 False ENSG00000167508 ENSG00000167508 HGNC:7529 NCSTN gene NCSTN Expert Review;Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACNE INVERSA, FAMILIAL, 1, OMIM:142690 20929727 False 3 100;0;0 4.18 False ENSG00000162736 ENSG00000162736 HGNC:17091 NLRP1 gene NLRP1 Expert Review Green;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with arthritis and dyskeratosis, OMIM:617388;Palmoplantar carcinoma, multiple self-healing, OMIM:615225 27662089;27965258;31873740;36763876 False 3 50;50;0 4.18 False ENSG00000091592 ENSG00000091592 HGNC:14374 NLRP3 gene NLRP3 Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CINCA syndrome, OMIM:607115;Muckle-Wells syndrome, OMIM:191900 11687797;12032915 False 3 50;50;0 4.18 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blau syndrome, OMIM:186580 11528384 False 3 100;0;0 4.18 False ENSG00000167207 ENSG00000167207 HGNC:5331 NSDHL gene NSDHL Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CHILD syndrome, OMIM:308050 10710235 False 3 100;0;0 4.18 False ENSG00000147383 ENSG00000147383 HGNC:13398 OSMR gene OSMR Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250 18179886 False 3 100;0;0 4.18 False ENSG00000145623 ENSG00000145623 HGNC:8507 PSENEN gene PSENEN Expert list;Expert Review Green Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736 20929727 False 3 100;0;0 4.18 False ENSG00000205155 ENSG00000205155 HGNC:30100 RAG1 gene RAG1 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal OMENN SYNDROME, OMIM:603554 9630231 False 3 100;0;0 4.18 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal OMENN SYNDROME, OMIM:603554 9630231 False 3 100;0;0 4.18 False ENSG00000175097 ENSG00000175097 HGNC:9832 RNU12 gene RNU12 Expert Review Green;Literature;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal CDAGS syndrome, OMIM:603116;porokeratosis;erythematous cutaneous eruption 34085356 False 3 100;0;0 4.18 False ENSG00000270022 ENSG00000276027 HGNC:19380 SAMHD1 gene SAMHD1 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Chilblain lupus 2, OMIM:614415;AICARDI-GOUTIERES SYNDROME 5, OMIM:612952 21204240;19525956 False 3 100;0;0 4.18 False ENSG00000101347 ENSG00000101347 HGNC:15925 SH3PXD2B gene SH3PXD2B Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FRANK-TER HAAR SYNDROME, OMIM:249420 20137777 False 3 100;0;0 4.18 False ENSG00000174705 ENSG00000174705 HGNC:29242 SLC39A4 gene SLC39A4 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, OMIM:201100 12068297 False 3 100;0;0 4.18 False ENSG00000147804 ENSG00000147804 HGNC:17129 STAT3 gene STAT3 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome, OMIM:147060;Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952 17676033;25038750 False 3 100;0;0 4.18 False ENSG00000168610 ENSG00000168610 HGNC:11364 TMEM173 gene TMEM173 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy, infantile-onset, OMIM:615934 25029335 False 3 100;0;0 4.18 False ENSG00000184584 ENSG00000184584 HGNC:27962 TREX1 gene TREX1 Expert Review Green;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750;Chilblain lupus, OMIM:610448 16845398;17660818 False 3 100;0;0 4.18 False ENSG00000213689 ENSG00000213689 HGNC:12269 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 ADAMTS2 gene ADAMTS2 Expert Review Red Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410 False 1 0;50;50 4.18 False ENSG00000087116 ENSG00000087116 HGNC:218 AGPS gene AGPS Expert Review Red;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology Photoallergic dermatitis False 1 0;0;100 4.18 False ENSG00000018510 ENSG00000018510 HGNC:327 COL1A1 gene COL1A1 Expert Review Red Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.18 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Red Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.18 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL3A1 gene COL3A1 Expert Review Red Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.18 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A3 gene COL4A3 Expert Review Red Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 4.18 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Red Rare genetic inflammatory skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 4.18 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Red Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;50;50 4.18 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL5A1 gene COL5A1 Expert Review Red Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.18 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert Review Red Rare genetic inflammatory skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.18 False ENSG00000204262 ENSG00000204262 HGNC:2210 EDA gene EDA Expert Review Red;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED 9683615 False 1 50;0;50 4.18 False ENSG00000158813 ENSG00000158813 HGNC:3157 FLG gene FLG Expert Review Red;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ichthyosis vulgaris, OMIM:146700;Dermatitis, atopic, susceptibility to, 2, OMIM:605803;hereditary palmoplantar keratoderma, MONDO:0019272 16444271;16550169 False 1 50;25;25 4.18 False ENSG00000143631 ENSG00000143631 HGNC:3748 XYLT2 gene XYLT2 Expert Review Red;London North GLH;NHS GMS Rare genetic inflammatory skin disorders Dermatology Scleroderma False 1 0;0;100 4.18 False ENSG00000015532 ENSG00000015532 HGNC:15517