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;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoderma, palmoplantar, punctate type IA (MIM#148600) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 30451279;26608363 False 3 100;0;0 0.132 True ENSG00000103591 ENSG00000103591 HGNC:25662 ALOX12B gene ALOX12B Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 100;0;0 0.132 True ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000179148 ENSG00000179148 HGNC:13743 AP1S1 gene AP1S1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome (MIM#609313) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 19057675;23423674;30244301 False 3 100;0;0 0.132 True ENSG00000106367 ENSG00000106367 HGNC:559 AQP5 gene AQP5 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000161798 ENSG00000161798 HGNC:638 ASPRV1 gene ASPRV1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, lamellar, autosomal dominant, MIM# 146750;palmoplantar keratoderma;lamellar ichthyosis Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 PMID: 32516568 False 3 100;0;0 0.132 True ENSG00000244617 ENSG00000244617 HGNC:26321 CARD14 gene CARD14 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pityriasis rubra pilaris (MIM#173200) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 22703878;27760266 False 3 100;0;0 0.132 True ENSG00000141527 ENSG00000141527 HGNC:16446 CAST gene CAST Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 25683118;31392520;30656735;28851602 False 3 100;0;0 0.132 True ENSG00000153113 ENSG00000153113 HGNC:1515 CDSN gene CDSN Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 1 MIM#270300" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 23957618;22146835;20691404;21191406 False 3 100;0;0 0.132 True ENSG00000204539 ENSG00000204539 HGNC:1802 CERS3 gene CERS3 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9 (MIM#615023) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 23754960;30578701;23754960 False 3 100;0;0 0.132 True ENSG00000154227 ENSG00000154227 HGNC:23752 CSTA gene CSTA Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 4 #607936" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 23534700;21944047;25400170 False 3 100;0;0 0.132 True ENSG00000121552 ENSG00000121552 HGNC:2481 CTSC gene CTSC Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome (MIM#245000) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 11106356;32601924 False 3 100;0;0 0.132 True ENSG00000109861 ENSG00000109861 HGNC:2528 DSC2 gene DSC2 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG1 gene DSG1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000096696 ENSG00000096696 HGNC:3052 EBP gene EBP Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Chondrodysplasia punctata, X-linked dominant 302960" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 10391218;11038443;12509714 False 3 100;0;0 0.132 True ENSG00000147155 ENSG00000147155 HGNC:3133 ELOVL4 gene ELOVL4 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 34, MIM#133190 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 PMID:24566826;26258735;30065956. False 3 100;0;0 0.132 True ENSG00000118402 ENSG00000118402 HGNC:14415 ENPP1 gene ENPP1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole disease (MIM#615522) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 24075184;32598042 False 3 100;0;0 0.132 True ENSG00000197594 ENSG00000197594 HGNC:3356 FAM111B gene FAM111B Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 24268661;26471370;26495788;27406236 False 3 100;0;0 0.132 True Other ENSG00000189057 ENSG00000189057 HGNC:24200 GJA1 gene GJA1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100);Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 25398053;25168385;30811667 False 3 100;0;0 0.132 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB2 gene GJB2 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bart-Pumphrey syndrome, MIM#149200;Deafness, autosomal dominant 3A, MIM#601544;Deafness, autosomal recessive 1A, MIM#220290;Hystrix-like ichthyosis with deafness, MIM#602540;Keratitis-ichthyosis-deafness syndrome, MIM#148210;Keratoderma, palmoplantar, with deafness, MIM#148350;Vohwinkel syndrome, MIM# 124500 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 11179004 False 3 100;0;0 0.132 True ENSG00000165474 ENSG00000165474 HGNC:4284 GJB3 gene GJB3 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythrokeratodermia variabilis et progressiva 1, OMIM #133200 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 9843209;10798362;10594760;17446259 False 3 100;0;0 0.132 True ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000189433 ENSG00000189433 HGNC:4286 GJB6 gene GJB6 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 2, Clouston type (MIM# 129500) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 23219093;19416251;27137747 False 3 100;0;0 0.132 True ENSG00000121742 ENSG00000121742 HGNC:4288 JUP gene JUP Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Naxos disease (MIM#601214) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 10902626;20130592 False 3 100;0;0 0.132 True ENSG00000173801 ENSG00000173801 HGNC:6207 KDSR gene KDSR Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4, MIM# 617526;severe thrombocytopaenia Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 28774589;30467204;28575652;34686882 False 3 100;0;0 0.132 True ENSG00000119537 ENSG00000119537 HGNC:4021 KLF4 gene KLF4 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 PMID: 35168889;10431239 False 3 100;0;0 0.132 True ENSG00000136826 ENSG00000136826 HGNC:6348 KRT1 gene KRT1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 0;0;0 0.132 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000);Dermatopathia pigmentosa reticularis (MIM#125595) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31525823;16960809;19040520 False 3 100;0;0 0.132 True ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000);Pachyonychia congenita 1 (MIM#167200) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 8595410;10839714 False 3 100;0;0 0.132 True ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 2 (MIM#167210) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31823354 False 3 100;0;0 0.132 True ENSG00000128422 ENSG00000128422 HGNC:6427 KRT6A gene KRT6A Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 3 (MIM#615726) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 21326300 False 3 100;0;0 0.132 True Other ENSG00000205420 ENSG00000205420 HGNC:6443 KRT6B gene KRT6B Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 4 (MIM#615728) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31823354 False 3 100;0;0 0.132 True ENSG00000185479 ENSG00000185479 HGNC:6444 KRT6C gene KRT6C Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31823354 False 3 100;0;0 0.132 True ENSG00000170465 ENSG00000170465 HGNC:20406 KRT9 gene KRT9 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, epidermolytic (MIM#144200) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31525823;29044727;7512862 False 3 100;0;0 0.132 True ENSG00000171403 ENSG00000171403 HGNC:6447 LOR gene LOR Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vohwinkel syndrome with ichthyosis MIM#604117 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 11703298;9326323;8673107;9326398;25234742 False 3 100;0;0 0.132 True ENSG00000203782 ENSG00000203782 HGNC:6663 MBTPS2 gene MBTPS2 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Olmsted syndrome, X-linked (MIM#300918);Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800);IFAP syndrome with or without BRESHECK syndrome (MIM#308205)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 100;0;0 0.132 True ENSG00000012174 ENSG00000012174 HGNC:15455 NIPAL4 gene NIPAL4 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 30578701 False 3 100;0;0 0.132 True ENSG00000172548 ENSG00000172548 HGNC:28018 NLRP1 gene NLRP1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar carcinoma, multiple self-healing, OMIM # 615225 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 PMID: 27662089 False 3 100;0;0 0.132 True ENSG00000091592 ENSG00000091592 HGNC:14374 NSDHL gene NSDHL Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "CHILD syndrome (MIM#308050)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 15689440;26459993 False 3 100;0;0 0.132 True ENSG00000147383 ENSG00000147383 HGNC:13398 PERP gene PERP Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Olmsted syndrome 2, MIM# 619208;Erythrokeratodermia variabilis et progressiva 7, MIM# 619209 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31898316;30321533;31361044 False 3 50;0;50 0.132 True ENSG00000112378 ENSG00000112378 HGNC:17637 PKP1 gene PKP1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia/skin fragility syndrome (MIM#604536) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 32248567 False 3 100;0;0 0.132 True ENSG00000081277 ENSG00000081277 HGNC:9023 PNPLA1 gene PNPLA1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 30578701 False 3 100;0;0 0.132 True ENSG00000180316 ENSG00000180316 HGNC:21246 POMP gene POMP Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 20226437;27503413;29315485 False 3 100;0;0 0.132 True ENSG00000132963 ENSG00000132963 HGNC:20330 RHBDF2 gene RHBDF2 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tylosis with oesophageal cancer, MIM# 148500 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 22265016;22638770 False 3 100;0;0 0.132 True ENSG00000129667 ENSG00000129667 HGNC:20788 RSPO1 gene RSPO1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644;Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 17041600;18085567;18250098;18250097 False 3 100;0;0 0.132 True ENSG00000169218 ENSG00000169218 HGNC:21679 SDR9C7 gene SDR9C7 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 30578701;31633189 False 3 100;0;0 0.132 True ENSG00000170426 ENSG00000170426 HGNC:29958 SERPINB7 gene SERPINB7 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma, Nagashima type (MIM#615598) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 24773080;24207119;24514002;31706940 False 3 100;0;0 0.132 True ENSG00000166396 ENSG00000166396 HGNC:13902 SLURP1 gene SLURP1 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Meleda disease (MIM#248300) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 14674887;32157724;12483299;14756676 False 3 100;0;0 0.132 True ENSG00000126233 ENSG00000126233 HGNC:18746 SMARCAD1 gene SMARCAD1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basan syndrome, MIM#129200;Huriez syndrome, OMIM #181600 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 26932190;24664640 False 3 50;50;0 0.132 True ENSG00000163104 ENSG00000163104 HGNC:18398 SNAP29 gene SNAP29 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders Unknown Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 False 3 100;0;0 0.132 False ENSG00000099940 ENSG00000099940 HGNC:11133 SPINK5 gene SPINK5 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome (MIM#256500) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 11841556 False 3 100;0;0 0.132 True ENSG00000133710 ENSG00000133710 HGNC:15464 TAT gene TAT Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II (MIM#276600) Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 31799120;21145993;18945316 False 3 100;0;0 0.132 True ENSG00000198650 ENSG00000198650 HGNC:11573 TGM1 gene TGM1 Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)" Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 19890349;24261627;30302839 False 3 100;0;0 0.132 True ENSG00000092295 ENSG00000092295 HGNC:11777 TRPV3 gene TRPV3 Expert Review Green;Victorian Clinical Genetics Services Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Olmsted syndrome, MIM# 614594 Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 25285920;22405088;24452206 False 3 100;0;0 0.132 True Other ENSG00000167723 ENSG00000167723 HGNC:18084 VPS33B gene VPS33B Expert Review Green;Literature Palmoplantar Keratoderma and Erythrokeratoderma Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome Palmoplantar keratoderma;HP:0000982; Erythrokeratoderma;MONDO:0019270 28017832;30561130 False 3 50;50;0 0.132 True ENSG00000184056 ENSG00000184056 HGNC:12712