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