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 AAGAB gene AAGAB Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoderma, palmoplantar, punctate type IA, 148600;Punctate keratoderma;Punctate keratoderma and congenital dysplasia of the hip;PPKP Buschke-Fischer-Brauer type 23000146;23064416;23563198;24289292 False 3 100;0;0 1.35 False ENSG00000103591 ENSG00000103591 HGNC:25662 ALOX12B gene ALOX12B Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma);Nonbullous congenital ichthyosiform erythroderma (NBCIE) 11773004;17139268;19890349;16116617 False 3 100;0;0 1.35 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE); Most patients present with collodion membrane at birth and have palmoplantar keratoderma False 3 100;0;0 1.35 False ENSG00000179148 ENSG00000179148 HGNC:13743 AQP5 gene AQP5 Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, Bothnian type, 600231 27255181; 23867895; 23830519 False 3 100;0;0 1.35 False ENSG00000161798 ENSG00000161798 HGNC:638 CARD14 gene CARD14 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pityriasis rubra pilaris, OMIM:173200;Psoriasis 2, OMIM:602723;Keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma False 3 100;0;0 1.35 False ENSG00000141527 ENSG00000141527 HGNC:16446 CAST gene CAST Expert Review Green;Literature Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295" 25683118 False 3 100;0;0 1.35 False ENSG00000153113 ENSG00000153113 HGNC:1515 CTSC gene CTSC Expert list;Expert Review Green Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome;Haim-Munk syndrome;Periodontitis 1, juvenile 10581027;15585850;11180012;10662807 False 3 100;0;0 1.35 False ENSG00000109861 ENSG00000109861 HGNC:2528 DSC2 gene DSC2 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN; UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11, 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 18957847 False 3 50;50;0 1.35 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG1 gene DSG1 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508;Keratosis palmoplantaris striata I, AD, 148700 27534273 False 3 100;0;0 1.35 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN; UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD);Keratosis palmoplantaris striata II, OMIM:612908 (AD) 26303123;11841538;11063735;10594734;20738328;19924139;16628197;16175511;25516398;22795705;20940358 False 3 100;0;0 1.35 False ENSG00000096696 ENSG00000096696 HGNC:3052 ENPP1 gene ENPP1 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole disease, 615522 (includes punctate palmoplantar keratoderma) 19380683; 24075184; 26617416 False 3 100;0;0 1.35 False ENSG00000197594 ENSG00000197594 HGNC:3356 GJA1 gene GJA1 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythrokeratodermia variabilis et progressiva 3, OMIM:617525;Palmoplantar keratoderma with congenital alopecia, OMIM:104100;Oculodentodigital dysplasia, OMIM:164200 25398053;25964267;25388818;25168385;17256797;16891658 False 3 100;0;0 1.35 False Other - please provide details in the comments ENSG00000152661 ENSG00000152661 HGNC:4274 GJB2 gene GJB2 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoderma with deafness;Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Vohwinkel syndrome, 124500; Keratoderma, palmoplantar, with deafness, 148350; Keratitis-ichthyosis-deafness syndrome, 148210; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200 False 3 100;0;0 1.35 False ENSG00000165474 ENSG00000165474 HGNC:4284 GJB3 gene GJB3 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva, 133200;Erythrokeratodermia Variabilis;Erythrokeratoderma;deafness;peripheral neuropathy 21564177;12019212;9843209;10594760 False 3 0;0;0 1.35 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 26826093; 23037955; 22266302; 21950330 False 3 100;0;0 1.35 False ENSG00000189433 ENSG00000189433 HGNC:4286 GJB6 gene GJB6 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT 8845850;11874494 False 3 100;0;0 1.35 False ENSG00000121742 ENSG00000121742 HGNC:4288 JUP gene JUP Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Palmoplantar keratoderma, keratoderma with woolly hair, generalised skin fragility, epidermolysis bullosa 21668431;10902626;20130592 False 3 100;0;0 1.35 False ENSG00000173801 ENSG00000173801 HGNC:6207 KDSR gene KDSR Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4, 617526 28575652;34686882 False 3 0;0;0 1.35 False ENSG00000119537 ENSG00000119537 HGNC:4021 KRT1 gene KRT1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diffuse palmoplantar keratoderma;triate keratoderma;Epidermolytic hyperkeratosis, 113800;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; Ichthyosis histrix, Curth-Macklin type, 146590; Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1 ; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; Palmoplantar keratoderma, epidermolytic, 1 12406346; 7528239; 11286630 False 3 100;0;0 1.35 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ichthyosis with confetti, 609165; erythroderma, prominent scale, and palmoplantar keratoderma; Epidermolytic hyperkeratosis (EHK), 113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 False 3 100;0;0 1.35 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Naegeli-Franceschetti-Jadassohn syndrome, 161000; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR); palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 9804355 False 3 100;0;0 1.35 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal keratoderma;Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal non-epidermolytic palmoplantar keratoderma (NEPPK);FNEPPK1;striate keratoderma (palmar);focal keratoderma (palmar);Pachyonychia congenita (PC) 7539673;8595410;21790523;21160496 False 3 100;0;0 1.35 False ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Pachyonychia congenita 2, OMIM:167210;Steatocystoma multiplex, OMIM:184500 7539673;9008238;15102078;19659471;22336949 False 3 100;0;0 1.35 False ENSG00000128422 ENSG00000128422 HGNC:6427 KRT6A gene KRT6A Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenital;Pachyonychia Congenita, Type 1;Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 7545493;16250204;22098151 False 3 100;0;0 1.35 False ENSG00000205420 ENSG00000205420 HGNC:6443 KRT6B gene KRT6B Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 4, 615728;PC4;pachyonychia congenita type 2 (PC-2) 9618173;16250204 False 3 100;0;0 1.35 False ENSG00000185479 ENSG00000185479 HGNC:6444 KRT6C gene KRT6C Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;Focal keratoderma;dystrophic nails 19609311 False 3 100;0;0 1.35 False Other - please provide details in the comments ENSG00000170465 ENSG00000170465 HGNC:20406 KRT9 gene KRT9 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK);Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma 7511021;7512862;7532199;12838553;21410681 False 3 100;0;0 1.35 False ENSG00000171403 ENSG00000171403 HGNC:6447 POMP gene POMP Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 20226437;27503413 False 3 100;0;0 1.35 False ENSG00000132963 ENSG00000132963 HGNC:20330 RHBDF2 gene RHBDF2 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;Hyperkeratosis, diffuse palmoplantar (tylosis);Howel-Evans syndrome;Focal keratoderma;tylosis with oesophageal cancer;oral leukokeratosis 22638770;22265016 False 3 100;0;0 1.35 False Other - please provide details in the comments ENSG00000129667 ENSG00000129667 HGNC:20788 RSPO1 gene RSPO1 Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Palmoplantar hyperkeratosis and true hermaphroditism, 610644;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;palmoplantar keratoderma False 3 100;0;0 1.35 False ENSG00000169218 ENSG00000169218 HGNC:21679 SERPINB7 gene SERPINB7 Expert Review Green;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma, Nagashima type, 615598;palmoplantar keratoderma, recurrent tinea 28211129;27666198;26926003;26763456;25940237;25788444;25029323;24773080;24514002;24207119 False 3 100;0;0 1.35 False ENSG00000166396 ENSG00000166396 HGNC:13902 SLURP1 gene SLURP1 Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Meleda disease, 248300;Mal de Meleda (MDM);keratosis palmoplantaris transgrediens;palmoplantar keratoderma;Diffuse palmoplantar keratoderma 9887370;11285253;12483299;14756676;25557416;24985918;24738704;24604124;23290002;21690549;19692209;19120323;17184264;16882192;16865292;15026760 False 3 100;0;0 1.35 False ENSG00000126233 ENSG00000126233 HGNC:18746 SNAP29 gene SNAP29 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528; CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 21073448;15968592; 25958742 False 3 100;0;0 1.35 False ENSG00000099940 ENSG00000099940 HGNC:11133 TAT gene TAT Expert Review Green;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II, 276600; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; palmoplantar hyperkeratosis False 3 100;0;0 1.35 False ENSG00000198650 ENSG00000198650 HGNC:11573 TRPV3 gene TRPV3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Olmsted syndrome, 614594; Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 25285920 False 3 100;0;0 1.35 False Other - please provide details in the comments ENSG00000167723 ENSG00000167723 HGNC:18084 FAM83G gene FAM83G Expert Review Amber;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma with leukonychia and abundant curly hair 29138053;31656861;29963719 False 2 0;100;0 1.35 False ENSG00000188522 ENSG00000188522 HGNC:32554 SMARCAD1 gene SMARCAD1 Expert Review Amber;Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basan syndrome, 129200; palmoplantar keratoderma 24664640;26932190;24909267 False 2 0;0;0 1.35 False ENSG00000163104 ENSG00000163104 HGNC:18398 DES gene DES Eligibility statement prior genetic testing;Expert Review Red; UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I False 1 0;0;100 1.35 False ENSG00000175084 ENSG00000175084 HGNC:2770 DSG2 gene DSG2 Eligibility statement prior genetic testing;Expert Review Red; UKGTN Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB False 1 0;0;100 1.35 False ENSG00000046604 ENSG00000046604 HGNC:3049 ELOVL4 gene ELOVL4 Literature Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Spinocerebellar ataxia 34 133190" 26010696; 24566826 False 1 0;0;100 1.35 False ENSG00000118402 ENSG00000118402 HGNC:14415 KANK2 gene KANK2 Expert Review Red;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal PPKWH;Palmoplantar keratoderma and woolly hair, 616099 24671081 False 1 0;100;0 1.35 False ENSG00000197256 ENSG00000197256 HGNC:29300 LIPH gene LIPH Emory Genetics Laboratory;Expert Review Red Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders Woolly hair/hypotrichosis syndrome False 1 0;0;100 1.35 False ENSG00000163898 ENSG00000163898 HGNC:18483 MBTPS2 gene MBTPS2 Literature Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma;?Olmsted syndrome, X-linked, 300918;X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome) 24313295; 22931912 False 1 0;0;0 1.35 False ENSG00000012174 ENSG00000012174 HGNC:15455 MT-TS1 gene MT-TS1 Other Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders MITOCHONDRIAL palmoplantar keratoderma with deafness; Keratoderma, Palmoplantar, with deafness 9450881 False 1 0;100;0 1.35 False ENSG00000210151 ENSG00000210151 HGNC:7497 SASH1 gene SASH1 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 25315659 False 1 0;0;0 1.35 False ENSG00000111961 ENSG00000111961 HGNC:19182 SDR9C7 gene SDR9C7 Literature Palmoplantar keratoderma and erythrokeratodermas Keratodermas Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma);ARCI;Ichthyosis, congenital, autosomal recessive 13 617574" 28369735; 28173123 False 1 0;0;0 1.35 False ENSG00000170426 ENSG00000170426 HGNC:29958