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;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000103591 ENSG00000103591 HGNC:25662 ABCA12 gene ABCA12 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal autosomal recessive congenital ichthyosis;Harlequin ichthyosis False 3 100;0;0 4.9 False ENSG00000144452 ENSG00000144452 HGNC:14637 ABHD5 gene ABHD5 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 False 3 100;0;0 4.9 False ENSG00000011198 ENSG00000011198 HGNC:21396 ADAM17 gene ADAM17 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal False 3 100;0;0 4.9 False ENSG00000151694 ENSG00000151694 HGNC:195 ALDH3A2 gene ALDH3A2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 False 3 100;0;0 4.9 False ENSG00000072210 ENSG00000072210 HGNC:403 ALOX12B gene ALOX12B Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000179148 ENSG00000179148 HGNC:13743 AP1S1 gene AP1S1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome False 3 100;0;0 4.9 False ENSG00000106367 ENSG00000106367 HGNC:559 AQP5 gene AQP5 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000161798 ENSG00000161798 HGNC:638 ARSE gene ARSE Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata False 3 50;0;50 4.9 False ENSG00000157399 ENSG00000157399 HGNC:719 CAST gene CAST Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads False 3 100;0;0 4.9 False ENSG00000153113 ENSG00000153113 HGNC:1515 CDSN gene CDSN Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Desmosomal disorders False 3 100;0;0 4.9 False ENSG00000204539 ENSG00000204539 HGNC:1802 CERS3 gene CERS3 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000154227 ENSG00000154227 HGNC:23752 CSTA gene CSTA Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal susceptibility to psoriasis;susceptility to atopic dermatitis;Exfoliative ichthyosis/acral peeling skin syndrome False 3 100;0;0 4.9 False ENSG00000121552 ENSG00000121552 HGNC:2481 CTSC gene CTSC Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Papillon-Lefvre syndrome False 3 100;0;0 4.9 False ENSG00000109861 ENSG00000109861 HGNC:2528 CYP4F22 gene CYP4F22 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000171954 ENSG00000171954 HGNC:26820 DSC2 gene DSC2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Desmosomal disorders;Palmoplantar keratoderma, woolly hair False 3 100;0;0 4.9 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSC3 gene DSC3 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Desmosomal disorders;Palmoplantar keratoderma, woolly hair;Hypotrichosis and recurrent skin vesicles, OMIM:613102;hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136 19765682;31790667;18682494 False 3 100;0;0 4.9 False ENSG00000134762 ENSG00000134762 HGNC:3037 DSG1 gene DSG1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Palmoplantar keratoderma;Congenital erythroderma with palmoplantar keratoderma;Desmosomal disorders False 3 100;0;0 4.9 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSG4 gene DSG4 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Desmosomal disorders False 3 100;0;0 4.9 False ENSG00000175065 ENSG00000175065 HGNC:21307 DSP gene DSP Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, 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) False 3 100;0;0 4.9 False ENSG00000096696 ENSG00000096696 HGNC:3052 EBP gene EBP Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Conradi-Hunnermann-Happle syndrome False 3 100;0;0 4.9 False ENSG00000147155 ENSG00000147155 HGNC:3133 ELOVL4 gene ELOVL4 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ichthyosis, spastic quadriplegia, mental retardation False 3 100;0;0 4.9 False ENSG00000118402 ENSG00000118402 HGNC:14415 ENPP1 gene ENPP1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole disease False 3 100;0;0 4.9 False ENSG00000197594 ENSG00000197594 HGNC:3356 FLG gene FLG Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis vulgaris, OMIM:146700;Dermatitis, atopic, susceptibility to, 2, OMIM:605803;hereditary palmoplantar keratoderma, MONDO:0019272 16444271;16550169;22409988;36308042 False 3 100;0;0 4.9 False ENSG00000143631 ENSG00000143631 HGNC:3748 FLG2 gene FLG2 Expert list;Expert Review Green;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 6, OMIM: 618084 28884927;29505760 False 3 100;0;0 4.9 False ENSG00000143520 ENSG00000143520 HGNC:33276 GJA1 gene GJA1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology 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 False 3 100;0;0 4.9 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB2 gene GJB2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix False 3 100;0;0 4.9 False ENSG00000165474 ENSG00000165474 HGNC:4284 JUP gene JUP Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Palmoplantar keratoderma, keratoderma with woolly hair False 3 100;0;0 4.9 False ENSG00000173801 ENSG00000173801 HGNC:6207 KANK2 gene KANK2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma, woolly hair False 3 100;0;0 4.9 False ENSG00000197256 ENSG00000197256 HGNC:29300 KDSR gene KDSR Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4 34686882 False 3 100;0;0 4.9 False ENSG00000119537 ENSG00000119537 HGNC:4021 KRT1 gene KRT1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis histrix;Palmoplantar keratoderma;Epidermolytic hyperkeratosis False 3 100;0;0 4.9 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita;Palmoplantar keratoderma;Ichythosis with confetti;Epidermolytic hyperkeratosis False 3 100;0;0 4.9 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT2 gene KRT2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant ichthyosis False 3 100;0;0 4.9 False ENSG00000172867 ENSG00000172867 HGNC:6439 KRT6C gene KRT6C Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000170465 ENSG00000170465 HGNC:20406 KRT9 gene KRT9 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000171403 ENSG00000171403 HGNC:6447 LIPN gene LIPN Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000204020 ENSG00000204020 HGNC:23452 LOR gene LOR Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loricrin keratoderma False 3 100;0;0 4.9 False ENSG00000203782 ENSG00000203782 HGNC:6663 MBTPS2 gene MBTPS2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Olmstedt syndrome;IFAP syndrome;Keratosis follicularis spinulosa decalvans False 3 100;0;0 4.9 False ENSG00000012174 ENSG00000012174 HGNC:15455 NIPAL4 gene NIPAL4 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000172548 ENSG00000172548 HGNC:28018 NSDHL gene NSDHL Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CHILD syndrome False 3 100;0;0 4.9 False ENSG00000147383 ENSG00000147383 HGNC:13398 PERP gene PERP Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Olmsted syndrome-2, MIM# 619208, MONDO:003091;Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941;Ichthyosis, MONDO:0019269 30321533;31898316;31361044;34265120;34863005;32593191 False 3 50;0;50 4.9 False ENSG00000112378 ENSG00000112378 HGNC:17637 PKP1 gene PKP1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Desmosomal disorders False 3 100;0;0 4.9 False ENSG00000081277 ENSG00000081277 HGNC:9023 PNPLA1 gene PNPLA1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000180316 ENSG00000180316 HGNC:21246 POMP gene POMP Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 27503413;20226437;32425927 False 3 100;0;0 4.9 False ENSG00000132963 ENSG00000132963 HGNC:20330 RHBDF2 gene RHBDF2 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tylosis with esophageal cancer False 3 100;0;0 4.9 False ENSG00000129667 ENSG00000129667 HGNC:20788 RSPO1 gene RSPO1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000169218 ENSG00000169218 HGNC:21679 SDR9C7 gene SDR9C7 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal 617574;ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 False 3 100;0;0 4.9 False ENSG00000170426 ENSG00000170426 HGNC:29958 SERPINB7 gene SERPINB7 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma False 3 100;0;0 4.9 False ENSG00000166396 ENSG00000166396 HGNC:13902 SERPINB8 gene SERPINB8 Expert list;Expert Review Green;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 5, OMIM:617115 PubMed: 27476651 False 3 100;0;0 4.9 False ENSG00000166401 ENSG00000166401 HGNC:8952 SLURP1 gene SLURP1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Meleda disease, OMIM:248300 False 3 100;0;0 4.9 False ENSG00000126233 ENSG00000126233 HGNC:18746 SNAP29 gene SNAP29 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome False 3 100;0;0 4.9 False ENSG00000099940 ENSG00000099940 HGNC:11133 SPINK5 gene SPINK5 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Netherton Syndrome False 3 100;0;0 4.9 False ENSG00000133710 ENSG00000133710 HGNC:15464 STS gene STS Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females X linked ichthyosis False 3 100;0;0 4.9 False ENSG00000101846 ENSG00000101846 HGNC:11425 SULT2B1 gene SULT2B1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 14, OMIM:617571;Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091 False 3 100;0;0 4.9 False ENSG00000088002 ENSG00000088002 HGNC:11459 TGM1 gene TGM1 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis False 3 100;0;0 4.9 False ENSG00000092295 ENSG00000092295 HGNC:11777 TGM5 gene TGM5 Expert list;Expert Review Green;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, OMIM:609796 16380904;19440220;20164844;22036214 False 3 100;0;0 4.9 False ENSG00000104055 ENSG00000104055 HGNC:11781 TRPV3 gene TRPV3 Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Olmstedt syndrome False 3 100;0;0 4.9 False ENSG00000167723 ENSG00000167723 HGNC:18084 VPS33B gene VPS33B Expert Review Green;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis syndrome False 3 100;0;0 4.9 False ENSG00000184056 ENSG00000184056 HGNC:12712 AP1B1 gene AP1B1 Expert Review Amber;Literature Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 31630791;31630788;33452671;33349978;32969855;35144013 False 2 100;0;0 4.9 False ENSG00000100280 ENSG00000100280 HGNC:554 FAM83G gene FAM83G Expert Review Amber;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma 29138053;31656861;29963719 False 2 0;50;50 4.9 False ENSG00000188522 ENSG00000188522 HGNC:32554 NECTIN4 gene NECTIN4 Expert Review Amber;Other Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573;ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565 20691405;21346770;34067522;37183149;37829154 False 2 100;0;0 4.9 False ENSG00000143217 ENSG00000143217 HGNC:19688 CASP14 gene CASP14 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 12;617320 False 1 25;0;75 4.9 False ENSG00000105141 ENSG00000105141 HGNC:1502 CLDN1 gene CLDN1 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Neonatal ichthyosis-sclerosing cholangitis syndrome False 1 25;0;75 4.9 False ENSG00000163347 ENSG00000163347 HGNC:2032 DSC1 gene DSC1 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology Desmosomal disorders False 1 0;0;100 4.9 False ENSG00000134765 ENSG00000134765 HGNC:3035 DSG2 gene DSG2 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology Desmosomal disorders False 1 0;0;100 4.9 False ENSG00000046604 ENSG00000046604 HGNC:3049 MVK gene MVK Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porokeratosis 3, multiple types, OMIM:175900 False 1 25;0;75 4.9 False ENSG00000110921 ENSG00000110921 HGNC:7530 PEX7 gene PEX7 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Refsum disease False 1 25;0;75 4.9 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Refsum disease, OMIM:266500 False 1 25;0;75 4.9 False ENSG00000107537 ENSG00000107537 HGNC:8940 PKP2 gene PKP2 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology Desmosomal disorders False 1 0;0;100 4.9 False ENSG00000057294 ENSG00000057294 HGNC:9024 SASH1 gene SASH1 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 False 1 0;0;100 4.9 False ENSG00000111961 ENSG00000111961 HGNC:19182 SLC27A4 gene SLC27A4 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, OMIM:608649 False 1 25;0;75 4.9 False ENSG00000167114 ENSG00000167114 HGNC:10998 ST14 gene ST14 Expert Review Red;London North GLH;NHS GMS Palmoplantar keratodermas Dermatology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive congenital ichthyosis 17273967;18445049;18843291;29611532 False 1 33;0;67 4.9 False ENSG00000149418 ENSG00000149418 HGNC:11344 STK11 gene STK11 Expert Review Red Palmoplantar keratodermas Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 4.9 False ENSG00000118046 ENSG00000118046 HGNC:11389