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 ALDH1L2 gene ALDH1L2 Expert Review Red;Literature Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks 31341639;33168096 False 1 0;0;100 3.25 False ENSG00000136010 ENSG00000136010 HGNC:26777 DES gene DES Expert Review Red Ichthyosis and erythrokeratoderma MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Striate keratoderma with woolly hair;Cardiomyopathy, dilated, 1I False 1 0;0;100 3.25 False ENSG00000175084 ENSG00000175084 HGNC:2770 DSG2 gene DSG2 Expert Review Red Ichthyosis and erythrokeratoderma 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 3.25 False ENSG00000046604 ENSG00000046604 HGNC:3049 ELOVL4 gene ELOVL4 Expert Review Red Ichthyosis and erythrokeratoderma MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34 133190 24566826;26010696 False 1 0;0;100 3.25 False ENSG00000118402 ENSG00000118402 HGNC:14415 KANK2 gene KANK2 Expert Review Red Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal PPKWH;Palmoplantar keratoderma and woolly hair, 616099 24671081 False 1 0;100;0 3.25 False ENSG00000197256 ENSG00000197256 HGNC:29300 LIPH gene LIPH Expert Review Red Ichthyosis and erythrokeratoderma Woolly hair/hypotrichosis syndrome False 1 0;0;100 3.25 False ENSG00000163898 ENSG00000163898 HGNC:18483 LIPN gene LIPN Expert Review Red Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 8, 613943 21439540 False 1 0;0;100 3.25 False ENSG00000204020 ENSG00000204020 HGNC:23452 MBTPS2 gene MBTPS2 Expert Review Red Ichthyosis and erythrokeratoderma 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 3.25 False ENSG00000012174 ENSG00000012174 HGNC:15455 MT-TS1 gene MT-TS1 Expert Review Red Ichthyosis and erythrokeratoderma MITOCHONDRIAL Keratoderma, Palmoplantar, with deafness;palmoplantar keratoderma with deafness 9450881 False 1 0;100;0 3.25 False ENSG00000210151 ENSG00000210151 HGNC:7497 POMP gene POMP Expert Review Red Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 27503413;20226437;32425927 False 1 100;0;0 3.25 False ENSG00000132963 ENSG00000132963 HGNC:20330 SASH1 gene SASH1 Expert Review Red Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 25315659 False 1 0;0;0 3.25 False ENSG00000111961 ENSG00000111961 HGNC:19182