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 Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoderma, palmoplantar, punctate type IA, OMIM:148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip 23563198;24289292;23000146;23064416 False 3 100;0;0 4.12 False ENSG00000103591 ENSG00000103591 HGNC:25662 ABCA12 gene ABCA12 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500;Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277 False 3 100;0;0 4.12 False ENSG00000144452 ENSG00000144452 HGNC:14637 ABHD5 gene ABHD5 Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 11590543;33455044 False 3 100;0;0 4.12 False ENSG00000011198 ENSG00000011198 HGNC:21396 ALDH3A2 gene ALDH3A2 Expert Review;Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 9829906;16476818;25784589;27547594;29071827;29183715;29375833;29704247;30157790;30403285;31273323;31388754;31944864;32930514;34082469;34315315 False 3 100;0;0 4.12 False ENSG00000072210 ENSG00000072210 HGNC:403 ALOX12B gene ALOX12B Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal congenital non-bullous ichthyosiform erythroderma, MONDO:0019306;Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) 11773004;17139268;19890349;16116617 False 3 100;0;0 4.12 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, OMIM:606545;congenital non-bullous ichthyosiform erythroderma, MONDO:0019306 False 3 100;0;0 4.12 False ENSG00000179148 ENSG00000179148 HGNC:13743 AQP5 gene AQP5 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, Bothnian type, OMIM:600231 23830519;27255181;23867895 False 3 100;0;0 4.12 False ENSG00000161798 ENSG00000161798 HGNC:638 ASPRV1 gene ASPRV1 Expert Review Green;Literature Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, lamellar, autosomal dominant, OMIM:146750 32516568 False 3 100;0;0 4.12 False ENSG00000244617 ENSG00000244617 HGNC:26321 CARD14 gene CARD14 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pityriasis rubra pilaris, OMIM:173200 False 3 100;0;0 4.12 False ENSG00000141527 ENSG00000141527 HGNC:16446 CAST gene CAST Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295 25683118 False 3 100;0;0 4.12 False ENSG00000153113 ENSG00000153113 HGNC:1515 CDSN gene CDSN Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 1, OMIM:270300 PubMed: 21191406;12754508;23957618 False 3 100;0;0 4.12 False ENSG00000204539 ENSG00000204539 HGNC:1802 CERS3 gene CERS3 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9, OMIM:615023 23549421;23754960 False 3 100;0;0 4.12 False ENSG00000154227 ENSG00000154227 HGNC:23752 CLDN1 gene CLDN1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626 False 3 0;100;0 4.12 False ENSG00000163347 ENSG00000163347 HGNC:2032 CSTA gene CSTA Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 4, OMIM:607936 21944047;23534700 False 3 100;0;0 4.12 False ENSG00000121552 ENSG00000121552 HGNC:2481 CYP4F22 gene CYP4F22 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, OMIM:604777 False 3 100;0;0 4.12 False ENSG00000171954 ENSG00000171954 HGNC:26820 DSC2 gene DSC2 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476 18957847 False 3 50;50;0 4.12 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG1 gene DSG1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508;Keratosis palmoplantaris striata I, AD, OMIM:148700 27534273 False 3 100;0;0 4.12 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Keratosis palmoplantaris striata II, OMIM:612908;Epidermolysis bullosa, lethal acantholytic, OMIM:609638;Skin fragility-woolly hair syndrome, OMIM:607655;Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676;Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 22795705;11841538;16628197;19924139;11063735;20940358;26303123;10594734;20738328;16175511;25516398 False 3 100;0;0 4.12 False ENSG00000096696 ENSG00000096696 HGNC:3052 ELOVL1 gene ELOVL1 Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 23689133;29496980;30487246;32123819 False 3 100;0;0 4.12 False ENSG00000066322 ENSG00000066322 HGNC:14418 ENPP1 gene ENPP1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma) 26617416;24075184;19380683 False 3 100;0;0 4.12 False ENSG00000197594 ENSG00000197594 HGNC:3356 FLG gene FLG Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyosis vulgaris, OMIM:146700;Dermatitis, atopic, susceptibility to, 2, OMIM:605803;ichthyosis vulgaris, MONDO:0024304 16444271;16550169;24940654;22409988;33807935;36716921;36751330 False 3 50;50;0 4.12 False ENSG00000143631 ENSG00000143631 HGNC:3748 FLG2 gene FLG2 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 6, OMIM: 618084" False 3 0;100;0 4.12 False ENSG00000143520 ENSG00000143520 HGNC:33276 GJA1 gene GJA1 Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia variabilis et progressiva 3, OMIM:617525;Palmoplantar keratoderma with congenital alopecia, OMIM:104100 25388818;25964267;25168385;16891658;17256797;25398053 False 3 100;0;0 4.12 False Other - please provide details in the comments ENSG00000152661 ENSG00000152661 HGNC:4274 GJB2 gene GJB2 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hystrix-like ichthyosis with deafness, OMIM:602540;Keratoderma, palmoplantar, with deafness, OMIM:148350;Keratitis-ichthyosis-deafness syndrome, OMIM:148210;Vohwinkel syndrome, OMIM:24500;Bart-Pumphrey syndrome, OMIM:149200 False 3 100;0;0 4.12 False ENSG00000165474 ENSG00000165474 HGNC:4284 GJB3 gene GJB3 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva, OMIM:133200 12019212;9843209;21564177;10594760 False 3 0;0;0 4.12 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 22266302;21950330;26826093;23037955 False 3 100;0;0 4.12 False ENSG00000189433 ENSG00000189433 HGNC:4286 GJB6 gene GJB6 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 2, Clouston type, OMIM:129500 8845850;11874494 False 3 100;0;0 4.12 False ENSG00000121742 ENSG00000121742 HGNC:4288 GTF2E2 gene GTF2E2 Expert Review Green;Literature;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 26996949;28973399 False 3 100;0;0 4.12 False ENSG00000197265 ENSG00000197265 HGNC:4651 JUP gene JUP Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Naxos disease, OMIM:601214 20130592;10902626;21668431 False 3 100;0;0 4.12 False ENSG00000173801 ENSG00000173801 HGNC:6207 KDSR gene KDSR Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4, OMIM:617526 28575652;34686882 False 3 0;0;0 4.12 False ENSG00000119537 ENSG00000119537 HGNC:4021 KRT1 gene KRT1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, OMIM:600962;Palmoplantar keratoderma, epidermolytic, OMIM:;600962;Ichthyosis histrix, Curth-Macklin type, OMIM:146590;Epidermolytic hyperkeratosis, OMIM:113800;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 12406346;11286630;7528239 False 3 100;0;0 4.12 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolytic hyperkeratosis (EHK), OMIM:113800;ichthyosis with confetti, OMIM:609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 False 3 100;0;0 4.12 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760;Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000;Dermatopathia pigmentosa reticularis, OMIM:125595 9804355 False 3 100;0;0 4.12 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 1, OMIM:167200;Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000 21160496;8595410;21790523;7539673 False 3 100;0;0 4.12 False ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Steatocystoma multiplex, OMIM:184500;Pachyonychia congenita 2, OMIM:167210 15102078;22336949;9008238;7539673;19659471 False 3 100;0;0 4.12 False ENSG00000128422 ENSG00000128422 HGNC:6427 KRT6A gene KRT6A Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 3, OMIM:615726 16250204;7545493;22098151 False 3 100;0;0 4.12 False ENSG00000205420 ENSG00000205420 HGNC:6443 KRT6B gene KRT6B Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 4, OMIM:615728 16250204;9618173 False 3 100;0;0 4.12 False ENSG00000185479 ENSG00000185479 HGNC:6444 KRT6C gene KRT6C Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735 19609311 False 3 100;0;0 4.12 False Other - please provide details in the comments ENSG00000170465 ENSG00000170465 HGNC:20406 KRT9 gene KRT9 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, OMIM:144200 7511021;12838553;21410681;7512862;7532199 False 3 100;0;0 4.12 False ENSG00000171403 ENSG00000171403 HGNC:6447 LOR gene LOR Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vohwinkel syndrome with ichthyosis, OMIM:604117 16403113 False 3 0;100;0 4.12 False ENSG00000203782 ENSG00000203782 HGNC:6663 NIPAL4 gene NIPAL4 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, OMIM:612281 False 3 100;0;0 4.12 False ENSG00000172548 ENSG00000172548 HGNC:28018 PERP gene PERP Expert Review Green;Literature;NHS GMS Ichthyosis and erythrokeratoderma 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 31898316;30321533;31361044;34265120;34863005;32593191 False 3 100;0;0 4.12 False ENSG00000112378 ENSG00000112378 HGNC:17637 PIGL gene PIGL Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, OMIM:280000 False 3 0;100;0 4.12 False ENSG00000108474 ENSG00000108474 HGNC:8966 PNPLA1 gene PNPLA1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 10, OMIM:615024 24344921;6691440;26778108 False 3 100;0;0 4.12 False ENSG00000180316 ENSG00000180316 HGNC:21246 POMP gene POMP Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 27503413;20226437;32425927 False 3 100;0;0 4.12 False ENSG00000132963 ENSG00000132963 HGNC:20330 RHBDF2 gene RHBDF2 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tylosis with esophageal cancer, OMIM:148500 22265016;22638770 False 3 100;0;0 4.12 False Other - please provide details in the comments ENSG00000129667 ENSG00000129667 HGNC:20788 RSPO1 gene RSPO1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644;Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644 False 3 100;0;0 4.12 False ENSG00000169218 ENSG00000169218 HGNC:21679 SDR9C7 gene SDR9C7 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 13, OMIM:617574 28173123;28369735 False 3 100;0;0 4.12 False ENSG00000170426 ENSG00000170426 HGNC:29958 SERPINB7 gene SERPINB7 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal palmoplantar keratoderma, recurrent tinea;Palmoplantar keratoderma, Nagashima type, OMIM:615598 27666198;26926003;24207119;25788444;24514002;24773080;25940237;26763456;25029323;28211129 False 3 100;0;0 4.12 False ENSG00000166396 ENSG00000166396 HGNC:13902 SERPINB8 gene SERPINB8 Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 5, OMIM:617115 PubMed: 27476651 False 3 100;0;0 4.12 False ENSG00000166401 ENSG00000166401 HGNC:8952 SLC27A4 gene SLC27A4 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, OMIM:608649 False 3 100;0;0 4.12 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLURP1 gene SLURP1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Meleda disease, OMIM:248300 16865292;24738704;14756676;9887370;25557416;12483299;24985918;19692209;17184264;24604124;16882192;15026760;11285253;21690549;23290002;19120323 False 3 100;0;0 4.12 False ENSG00000126233 ENSG00000126233 HGNC:18746 SNAP29 gene SNAP29 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528 25958742;21073448;15968592 False 3 100;0;0 4.12 False ENSG00000099940 ENSG00000099940 HGNC:11133 SPINK5 gene SPINK5 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal "Netherton syndrome, OMIM: 256500" False 3 0;100;0 4.12 False ENSG00000133710 ENSG00000133710 HGNC:15464 SREBF1 gene SREBF1 Expert Review Green;Literature;NHS GMS Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221;Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017 31790666;32497488;32902915;33253727;33742461 False 3 100;0;0 4.12 False ENSG00000072310 ENSG00000072310 HGNC:11289 ST14 gene ST14 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400 False 3 100;0;0 4.12 False ENSG00000149418 ENSG00000149418 HGNC:11344 STS gene STS Expert Review Green Ichthyosis and erythrokeratoderma Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ichthyosis, X-linked, OMIM:308100 False 3 0;0;100 4.12 False ENSG00000101846 ENSG00000101846 HGNC:11425 SULT2B1 gene SULT2B1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 14, OMIM:617571;Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091 28575648 False 3 100;0;0 4.12 False ENSG00000088002 ENSG00000088002 HGNC:11459 TAT gene TAT Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II, OMIM:276600 False 3 100;0;0 4.12 False ENSG00000198650 ENSG00000198650 HGNC:11573 TGM1 gene TGM1 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1, OMIM:242300 False 3 100;0;0 4.12 False ENSG00000092295 ENSG00000092295 HGNC:11777 TGM5 gene TGM5 Expert list;Expert Review Green;NHS GMS Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, OMIM:609796 16380904;19440220;20164844;22036214 False 3 100;0;0 4.12 False ENSG00000104055 ENSG00000104055 HGNC:11781 TRPV3 gene TRPV3 Expert Review Green Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400;Olmsted syndrome, OMIM:614594 25285920 False 3 33;0;67 4.12 False Other - please provide details in the comments ENSG00000167723 ENSG00000167723 HGNC:18084 AP1B1 gene AP1B1 ClinGen;Expert Review Amber;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 31630791;33452671;33349978;32969855;35144013 False 2 100;0;0 4.12 False ENSG00000100280 ENSG00000100280 HGNC:554 DBR1 gene DBR1 Expert Review Amber;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal ichthyosis, MONDO:0019269 37656279 False 2 0;100;0 4.12 False ENSG00000138231 ENSG00000138231 HGNC:15594 FAM83G gene FAM83G Expert Review Amber Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Palmoplantar keratoderma with leukonychia and abundant curly hair 29138053;31656861;29963719 False 2 0;100;0 4.12 False ENSG00000188522 ENSG00000188522 HGNC:32554 KRT2 gene KRT2 Expert Review Amber Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyosis bullosa of Siemens, OMIM:146800 False 2 0;100;0 4.12 False ENSG00000172867 ENSG00000172867 HGNC:6439 LSS gene LSS Expert Review Amber;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009 30723320;35830358 False 2 100;0;0 4.12 False ENSG00000160285 ENSG00000160285 HGNC:6708 MPDU1 gene MPDU1 Expert Review Amber;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180;MPDU1-congenital disorder of glycosylation, MONDO:0012211;ichthyosis, MONDO:0019269 11733564;29721919;35279850;36755425;38831602 False 2 100;0;0 4.12 False ENSG00000129255 ENSG00000129255 HGNC:7207 MSMO1 gene MSMO1 Expert Review Amber Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 False 2 0;100;0 4.12 False ENSG00000052802 ENSG00000052802 HGNC:10545 SMARCAD1 gene SMARCAD1 Expert Review Amber Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basan syndrome, OMIM:129200;palmoplantar keratoderma 24909267;26932190;24664640 False 2 0;0;0 4.12 False ENSG00000163104 ENSG00000163104 HGNC:18398 VIPAS39 gene VIPAS39 Expert Review Amber;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 39736737;37202112;32239418;26019847 False 2 100;0;0 4.12 False ENSG00000151445 ENSG00000151445 HGNC:20347 ALDH1L2 gene ALDH1L2 Expert Review Red;Literature Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks 31341639;33168096 False 1 0;0;100 4.12 False ENSG00000136010 ENSG00000136010 HGNC:26777 DES gene DES Expert Review Red Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Striate keratoderma with woolly hair;Cardiomyopathy, dilated, 1I False 1 0;0;100 4.12 False ENSG00000175084 ENSG00000175084 HGNC:2770 DSG2 gene DSG2 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB;Striate keratoderma with woolly hair False 1 0;0;100 4.12 False ENSG00000046604 ENSG00000046604 HGNC:3049 ELOVL4 gene ELOVL4 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34 133190 24566826;26010696 False 1 0;0;100 4.12 False ENSG00000118402 ENSG00000118402 HGNC:14415 KANK2 gene KANK2 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal PPKWH;Palmoplantar keratoderma and woolly hair, 616099 24671081 False 1 0;100;0 4.12 False ENSG00000197256 ENSG00000197256 HGNC:29300 LIPH gene LIPH Expert Review Red Ichthyosis and erythrokeratoderma Dermatology Woolly hair/hypotrichosis syndrome False 1 0;0;100 4.12 False ENSG00000163898 ENSG00000163898 HGNC:18483 LIPN gene LIPN Expert Review Red Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 8, 613943 21439540 False 1 0;0;100 4.12 False ENSG00000204020 ENSG00000204020 HGNC:23452 MBTPS2 gene MBTPS2 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome);?Olmsted syndrome, X-linked, 300918;IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma 22931912;24313295 False 1 0;0;0 4.12 False ENSG00000012174 ENSG00000012174 HGNC:15455 MT-TS1 gene MT-TS1 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology MITOCHONDRIAL Keratoderma, Palmoplantar, with deafness;palmoplantar keratoderma with deafness 9450881 False 1 0;100;0 4.12 False ENSG00000210151 ENSG00000210151 HGNC:7497 SASH1 gene SASH1 Expert Review Red Ichthyosis and erythrokeratoderma Dermatology BIALLELIC, autosomal or pseudoautosomal ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 25315659 False 1 0;0;0 4.12 False ENSG00000111961 ENSG00000111961 HGNC:19182 ISCA-37417-Loss region Expert Review Green Ichthyosis and erythrokeratoderma Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females 308100;Ichthyosis, X-linked False 3 0;0;0 4.12 False X 6537771 8156913 3 60 cnv_loss Xp22.31 recurrent region (includes STS) Loss