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 ABCA12 gene ABCA12 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4A (MIM#601277);Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) Ichthyosis;HP:0008064 31168818;19664001;31489029 False 3 100;0;0 1.11 True ENSG00000144452 ENSG00000144452 HGNC:14637 ABHD5 gene ABHD5 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Chanarin-Dorfman syndrome MIM#275630;neutral lipid storage disease with ichthyosis;non-bullous congenital ichthyosiform erithroderma" Ichthyosis;HP:0008064 30795549 False 3 100;0;0 1.11 True ENSG00000011198 ENSG00000011198 HGNC:21396 ALDH3A2 gene ALDH3A2 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200;spasticity;ichthyosis;intellectual disability Ichthyosis;HP:0008064 31273323 False 3 100;0;0 1.11 True ENSG00000072210 ENSG00000072210 HGNC:403 ALOX12B gene ALOX12B Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 Ichthyosis;HP:0008064 16116617;11773004 False 3 100;0;0 1.11 True ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, MIM#606545 Ichthyosis;HP:0008064 16116617;31046801;26370990 False 3 100;0;0 1.11 True ENSG00000179148 ENSG00000179148 HGNC:13743 AP1B1 gene AP1B1 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;enteropathy;deafness;ichthyosis;keratoderma Ichthyosis;HP:0008064 31630788;31630791 False 3 100;0;0 1.11 True ENSG00000100280 ENSG00000100280 HGNC:554 AP1S1 gene AP1S1 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome (MIM#609313) Ichthyosis;HP:0008064 19057675;23423674;30244301 False 3 100;0;0 1.11 True ENSG00000106367 ENSG00000106367 HGNC:559 ASPRV1 gene ASPRV1 Expert Review Green;Literature Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, lamellar, autosomal dominant, MIM# 146750;palmoplantar keratoderma;lamellar ichthyosis Ichthyosis;HP:0008064 PMID: 32516568 False 3 100;0;0 1.11 True ENSG00000244617 ENSG00000244617 HGNC:26321 CDSN gene CDSN Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 1 MIM#270300;ichthyosiform erythroderma" Ichthyosis;HP:0008064 24794518;18436651;20691404;21191406 False 3 100;0;0 1.11 True ENSG00000204539 ENSG00000204539 HGNC:1802 CERS3 gene CERS3 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9, MIM# 615023 Ichthyosis;HP:0008064 23754960;23549421;31168818;30578701 False 3 100;0;0 1.11 True ENSG00000154227 ENSG00000154227 HGNC:23752 CLDN1 gene CLDN1 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 Ichthyosis;HP:0008064 12164927;11889141;29146216 False 3 100;0;0 1.11 True ENSG00000163347 ENSG00000163347 HGNC:2032 CLDN10 gene CLDN10 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal HELIX syndrome MIM#617671;hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX) Ichthyosis;HP:0008064 False 3 100;0;0 1.11 True ENSG00000134873 ENSG00000134873 HGNC:2033 CSTA gene CSTA Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 4 MIM#607936;exfoliative ichthyosis Ichthyosis;HP:0008064 21944047;23534700;25400170 False 3 100;0;0 1.11 True ENSG00000121552 ENSG00000121552 HGNC:2481 CYP4F22 gene CYP4F22 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 Ichthyosis;HP:0008064 16436457 False 3 100;0;0 1.11 True ENSG00000171954 ENSG00000171954 HGNC:26820 EBP gene EBP Expert list;Expert Review Green Ichthyosis 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 MIM#302960;Conradi-Hunermann syndrome Ichthyosis;HP:0008064 10391218;30135486;25846959 False 3 100;0;0 1.11 True ENSG00000147155 ENSG00000147155 HGNC:3133 ELOVL1 gene ELOVL1 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527 Ichthyosis;HP:0008064 30487246;29496980;23689133 False 3 100;0;0 1.11 True ENSG00000066322 ENSG00000066322 HGNC:14418 ELOVL4 gene ELOVL4 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)" Ichthyosis;HP:0008064 22100072;24571530 False 3 100;0;0 1.11 True ENSG00000118402 ENSG00000118402 HGNC:14415 ERCC2 gene ERCC2 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive MIM#601675;photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS) Ichthyosis;HP:0008064 9651581;30580289;27862069;25002996;20944642 False 3 100;0;0 1.11 True ENSG00000104884 ENSG00000104884 HGNC:3434 FLG gene FLG Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ichthyosis vulgaris 146700;{Dermatitis, atopic, susceptibility to, 2} 605803 Ichthyosis;HP:0008064 17291859;30681730 False 3 100;0;0 1.11 True ENSG00000143631 ENSG00000143631 HGNC:3748 FLG2 gene FLG2 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Peeling skin syndrome 6, MIM# 618084" Ichthyosis;HP:0008064 29758285;28884927;29505760 False 3 100;0;0 1.11 True ENSG00000143520 ENSG00000143520 HGNC:33276 GJB2 gene GJB2 Expert list;Expert Review Green Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hystrix-like ichthyosis with deafness MIM#602540;Keratitis-ichthyosis-deafness syndrome MIM#148210 Ichthyosis;HP:0008064 11912510 False 3 100;0;0 1.11 True ENSG00000165474 ENSG00000165474 HGNC:4284 KLK11 gene KLK11 Expert Review Green;Literature Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ichthyosis with erythrokeratoderma, MIM# 620507" Ichthyosis;HP:0008064 36689511;37212630 False 3 100;0;0 1.11 True ENSG00000167757 ENSG00000167757 HGNC:6359 KRT1 gene KRT1 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602;Ichthyosis histrix, Curth-Macklin type, MIM# 146590 Ichthyosis;HP:0008064 False 3 100;0;0 1.11 True ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602;Ichthyosis with confetti, MIM# 609165 Ichthyosis;HP:0008064 False 3 100;0;0 1.11 True ENSG00000186395 ENSG00000186395 HGNC:6413 KRT2 gene KRT2 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Superficial epidermolytic ichthyosis (SEI) , MIM#146800 Ichthyosis;HP:0008064 26581228;22612346 False 3 100;0;0 1.11 True ENSG00000172867 ENSG00000172867 HGNC:6439 LOR gene LOR Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vohwinkel syndrome with ichthyosis, MIM# 604117 Ichthyosis;HP:0008064 8673107;9326398;9326323;25234742;25142840;11121146;11038186 False 3 100;0;0 1.11 True ENSG00000203782 ENSG00000203782 HGNC:6663 MBTPS2 gene MBTPS2 Expert list;Expert Review Green Ichthyosis Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome MIM#308205;follicular ichthyosis;atrichia of the scalp;photophobia Ichthyosis;HP:0008064 19361614;21426410 False 3 100;0;0 1.11 True ENSG00000012174 ENSG00000012174 HGNC:15455 NIPAL4 gene NIPAL4 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, MIM# 612281 Ichthyosis;HP:0008064 17557927 False 3 100;0;0 1.11 True ENSG00000172548 ENSG00000172548 HGNC:28018 NSDHL gene NSDHL Expert list;Expert Review Green Ichthyosis 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;Congenital hemidysplasia with ichthyosiform nevus and limb defects Ichthyosis;HP:0008064 10710235;26459993 False 3 100;0;0 1.11 True ENSG00000147383 ENSG00000147383 HGNC:13398 PIGL gene PIGL Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 Ichthyosis;HP:0008064 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.11 True ENSG00000108474 ENSG00000108474 HGNC:8966 PNPLA1 gene PNPLA1 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 10, MIM# 615024 Ichthyosis;HP:0008064 22246504;24344921;26691440 False 3 100;0;0 1.11 True ENSG00000180316 ENSG00000180316 HGNC:21246 POMP gene POMP Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952 Ichthyosis;HP:0008064 20226437;27503413 False 3 100;0;0 1.11 True ENSG00000132963 ENSG00000132963 HGNC:20330 SDR9C7 gene SDR9C7 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 13 MIM#617574 Ichthyosis;HP:0008064 28173123;28369735 False 3 100;0;0 1.11 True ENSG00000170426 ENSG00000170426 HGNC:29958 SERPINB8 gene SERPINB8 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 5 MIM#617115 Ichthyosis;HP:0008064 27476651 False 3 100;0;0 1.11 True ENSG00000166401 ENSG00000166401 HGNC:8952 SLC27A4 gene SLC27A4 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome MIM#608649 Ichthyosis;HP:0008064 12697906;19631310;31168818 False 3 100;0;0 1.11 True ENSG00000167114 ENSG00000167114 HGNC:10998 SNAP29 gene SNAP29 Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Ichthyosis;HP:0008064 15968592;21073448 False 3 100;0;0 1.11 True ENSG00000099940 ENSG00000099940 HGNC:11133 SPINK5 gene SPINK5 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome MIM#256500 Ichthyosis;HP:0008064 10712206;15590704;31977080 False 3 100;0;0 1.11 True ENSG00000133710 ENSG00000133710 HGNC:15464 SREBF1 gene SREBF1 Expert Review Green;Literature Ichthyosis Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016;Mucoepithelial dysplasia, hereditary, MIM#158310 Ichthyosis;HP:0008064 32497488;31790666;32902915 False 3 100;0;0 1.11 True ENSG00000072310 ENSG00000072310 HGNC:11289 ST14 gene ST14 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 11 MIM#602400 Ichthyosis;HP:0008064 17273967;18843291;18445049;30982314 False 3 100;0;0 1.11 True ENSG00000149418 ENSG00000149418 HGNC:11344 STS gene STS Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis, X-linked, MIM# 308100 Ichthyosis;HP:0008064 False 3 100;0;0 1.11 True ENSG00000101846 ENSG00000101846 HGNC:11425 SULT2B1 gene SULT2B1 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 14 MIM#617571 Ichthyosis;HP:0008064 28575648 False 3 100;0;0 1.11 True ENSG00000088002 ENSG00000088002 HGNC:11459 SUMF1 gene SUMF1 Expert list;Expert Review Green Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency MIM#272200;neurologic deterioration with mental retardation;skeletal anomalies;organomegaly;ichthyosis Ichthyosis;HP:0008064 30124108;28566233;25222778;24339620 False 3 100;0;0 1.11 True ENSG00000144455 ENSG00000144455 HGNC:20376 TGM1 gene TGM1 Expert Review Green;Victorian Clinical Genetics Services Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) Ichthyosis;HP:0008064 19890349;24261627;30302839 False 3 100;0;0 1.11 True ENSG00000092295 ENSG00000092295 HGNC:11777 VPS33B gene VPS33B Expert Review Green;Literature Ichthyosis Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive keratoderma-ichthyosis-deafness Ichthyosis;HP:0008064 30561130;28017832 False 3 100;0;0 1.11 True ENSG00000184056 ENSG00000184056 HGNC:12712