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 AGA gene AGA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400;MONDO:0008830 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 1703489;1904874;8064811;8946839 False 3 100;0;0 1.13 True ENSG00000038002 ENSG00000038002 HGNC:318 AP5Z1 gene AP5Z1 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia MONDO:0019064 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 26085577;29884839 False 3 0;0;0 1.13 False ENSG00000242802 ENSG00000242802 HGNC:22197 ARSA gene ARSA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100;MONDO:0009591 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200;MONDO:0009661 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 11668612 False 3 100;0;0 1.13 True ENSG00000113273 ENSG00000113273 HGNC:714 ARSK gene ARSK Expert Review Green;Literature Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis MONDO:0019249, ARSK-related Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 34916232;32856704 False 3 100;0;0 1.13 True ENSG00000164291 ENSG00000164291 HGNC:25239 ASAH1 gene ASAH1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, MIM# 228000 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP13A2 gene ATP13A2 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive 617225 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 28137957;31996848 False 3 100;0;0 1.13 True ENSG00000159363 ENSG00000159363 HGNC:30213 CLCN6 gene CLCN6 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Benign partial epilepsy;febrile seizures;NCL Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 25794116;21107136;33217309 False 3 100;0;0 1.13 True Other ENSG00000011021 ENSG00000011021 HGNC:2024 CLN3 gene CLN3 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 7553855 False 3 100;0;0 1.13 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 20157158 False 3 100;0;0 1.13 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 11791207;11727201;21549341 False 3 100;0;0 1.13 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, MIM# 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10508524;15024724;16570191 False 3 100;0;0 1.13 True ENSG00000182372 ENSG00000182372 HGNC:2079 CTNS gene CTNS Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800;Cystinosis, ocular nonnephropathic 219750" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 PMID: 32564281 False 3 100;0;0 1.13 True ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, MIM# 256540 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 8514852;8968752 False 3 100;0;0 1.13 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal ectodermal dysplasia syndrome MONDO:0019287;Other disorders of complex molecule degradation Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 31282082;29884839 False 3 0;0;0 1.13 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127;MONDO:0012414 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 16685649;16670177;25298308;33681191;29284168;27072142 False 3 100;0;0 1.13 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 28749476;27668283;27524508 False 3 100;0;0 1.13 True ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Pycnodysostosis 265800" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 PMID: 32667742;25725806;25304337 False 3 50;50;0 1.13 True ENSG00000143387 ENSG00000143387 HGNC:2536 DNAJC5 gene DNAJC5 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350;MONDO:0008083 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 21820099;22073189;22235333;22978711 False 3 100;0;0 1.13 True ENSG00000101152 ENSG00000101152 HGNC:16235 EPG5 gene EPG5 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;Vici syndrome MONDO:0009452 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 33674710;34130600;29884839 False 3 0;0;0 1.13 False ENSG00000152223 ENSG00000152223 HGNC:29331 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000;MONDO:0009254 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10094192 False 3 100;0;0 1.13 True ENSG00000179163 ENSG00000179163 HGNC:4006 GAA gene GAA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM# 232300;MONDO:0009290 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 16917947 False 3 100;0;0 1.13 True ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM# 245200;MONDO:0009499 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 20886637 False 3 100;0;0 1.13 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM# 253000;MONDO:0009659 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 9298823 False 3 100;0;0 1.13 True ENSG00000141012 ENSG00000141012 HGNC:4122 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, MIM# 608013;Gaucher disease, type I, MIM# 230800;Gaucher disease, type II, MIM# 230900;Gaucher disease, type III, MIM# 231000;Gaucher disease, type IIIC, MIM# 231005 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000177628 ENSG00000177628 HGNC:4177 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM# 301500;MONDO:0010526 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 28613767;33673160 False 3 100;0;0 1.13 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, MIM# 230500;GM1-gangliosidosis, type II, MIM# 230600;GM1-gangliosidosis, type III, MIM# 230650;Mucopolysaccharidosis type IVB (Morquio), MIM# 253010 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 1907800;1909089;17309651;11511921 False 3 100;0;0 1.13 True ENSG00000170266 ENSG00000170266 HGNC:4298 GM2A gene GM2A Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "GM2-gangliosidosis, AB variant, MIM# 272750" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000196743 ENSG00000196743 HGNC:4367 GNE gene GNE Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Nonaka myopathy, MIM# 605820" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNPTAB gene GNPTAB Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta, MIM# 252500;MONDO:0009650;Mucolipidosis III alpha/beta, MIM# 252600;MONDO:0018931 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605;MONDO:0009652 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10712439;19370764;19659762;33507475;33023972;32651481 False 3 100;0;0 1.13 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, MIM# 252940;Sanfilippo syndrome type D, MONDO:0009658 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 12573255;12624138;31536183;25851924 False 3 100;0;0 1.13 True ENSG00000135677 ENSG00000135677 HGNC:4422 GRN gene GRN Expert Review Green Lysosomal Storage Disorder Metabolic conditions BOTH monoallelic and biallelic, autosomal or pseudoautosomal neuronal ceroid lipofuscinosis MONDO:0016295;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 37981505;38347588;29884839 False 3 0;0;0 1.13 False ENSG00000030582 ENSG00000030582 HGNC:4601 GUSB gene GUSB Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220;MONDO:0009662 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000169919 ENSG00000169919 HGNC:4696 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, MIM# 272800;Tay-Sachs disease, MIM# 272800;MONDO:0010100 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800;MONDO:0010006 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657;Retinitis pigmentosa 73, MIM# 616544;MONDO:0014687 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 17033958;25859010;19479962;31228227;20825431;20583299 False 3 100;0;0 1.13 True ENSG00000165102 ENSG00000165102 HGNC:26527 HPS1 gene HPS1 Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 1, MIM# 203300" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000107521 ENSG00000107521 HGNC:5163 IDS gene IDS Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, MIM# 309900;MONDO:0010674;Hunter syndrome Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 9921913;9762601;8940265;1901826 False 3 100;0;0 1.13 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, MIM# 607014;Mucopolysaccharidosis Ih/s, MIM# 607015;Mucopolysaccharidosis Is, MIM# 607016;Mucopolysaccharidosis type 1, MONDO:0001586 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000127415 ENSG00000127415 HGNC:5391 KCTD7 gene KCTD7 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy MONDO:0020074;Neuronal ceroid lipofuscinosis Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 36368077;30295347;29884839 False 3 0;0;0 1.13 False ENSG00000243335 ENSG00000243335 HGNC:21957 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257;MONDO:0010281 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000005893 ENSG00000005893 HGNC:6501 LIPA gene LIPA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000;Lysosomal acid lipase deficiency, MONDO:0010204 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 11487567 False 3 100;0;0 1.13 True ENSG00000107798 ENSG00000107798 HGNC:6617 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM# 248510;MONDO:0009562 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000109323 ENSG00000109323 HGNC:6831 MCOLN1 gene MCOLN1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 3 100;0;0 1.13 True ENSG00000090674 ENSG00000090674 HGNC:13356 MFSD8 gene MFSD8 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951;MONDO:0012588;Macular dystrophy with central cone involvement, MIM# 616170;MONDO:0014515 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 17564970;19201763;25227500 False 3 100;0;0 1.13 True ENSG00000164073 ENSG00000164073 HGNC:28486 NAGA gene NAGA Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM# 609242;Schindler disease, type I and type II 609241;alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 11313741;31468281;15619430;8782044 False 3 100;0;0 1.13 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920;MONDO:0009656;Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491;MONDO:0014665 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 25818867;8650226 False 3 100;0;0 1.13 True ENSG00000108784 ENSG00000108784 HGNC:7632 NEU1 gene NEU1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I and type II, MIM# 256550;MONDO:0009738 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 8985184;9054950;11063730 False 3 100;0;0 1.13 True ENSG00000204386 ENSG00000204386 HGNC:7758 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 and type D, MIM# 257220;MONDO:0009757 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 9211849;11333381 False 3 100;0;0 1.13 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM# 607625;MONDO:0011873 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 11125141;17470133 False 3 100;0;0 1.13 True ENSG00000119655 ENSG00000119655 HGNC:14537 PPT1 gene PPT1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730;MONDO:0009744 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 7637805;9425237;9664077 False 3 100;0;0 1.13 True ENSG00000131238 ENSG00000131238 HGNC:9325 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency, MIM# 611721;Encephalopathy due to prosaposin deficiency, MONDO:0012719;Krabbe disease, atypical, MIM# 611722;MONDO:0012720;Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900;MONDO:0009590;Gaucher disease, atypical, MIM# 610539;MONDO:0012517 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10682309;1371116;15773042;31061751;30632081 False 3 100;0;0 1.13 True ENSG00000197746 ENSG00000197746 HGNC:9498 RAB7A gene RAB7A Expert Review Green Lysosomal Storage Disorder Metabolic conditions MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of autophagy;Charcot-Marie-Tooth disease type 2 MONDO:0018993 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 35159308;36449254;29884839 False 3 0;0;0 1.13 False ENSG00000075785 ENSG00000075785 HGNC:9788 SCARB2 gene SCARB2 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal action myoclonus-renal failure syndrome MONDO:0009699;Other disorders of complex molecule degradation Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 26677510;29884839 False 3 0;0;0 1.13 False ENSG00000138760 ENSG00000138760 HGNC:1665 SGSH gene SGSH Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900;MONDO:0009655 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 7493035;9158154;9401012;9554748 False 3 100;0;0 1.13 True ENSG00000181523 ENSG00000181523 HGNC:10818 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Salla disease 604369;MONDO:0011449;Sialic acid storage disorder, infantile 269920;MONDO:0010027 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10581036;10947946 False 3 100;0;0 1.13 True ENSG00000119899 ENSG00000119899 HGNC:10933 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756;Niemann-Pick disease, type B, MIM# 607616;MONDO:0011871 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 32292456;32280632;28164782 False 3 100;0;0 1.13 True ENSG00000166311 ENSG00000166311 HGNC:11120 SNX14 gene SNX14 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 34130600;29884839 False 3 0;0;0 1.13 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPG11 gene SPG11 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 11 MONDO:0011445 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 37871017;37709208;29884839 False 3 0;0;0 1.13 False ENSG00000104133 ENSG00000104133 HGNC:11226 SUMF1 gene SUMF1 Expert Review;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency (MIM#272200) Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 17360554;25885655;28566233 False 3 100;0;0 1.13 True ENSG00000144455 ENSG00000144455 HGNC:20376 TBK1 gene TBK1 Expert Review Green Lysosomal Storage Disorder Metabolic conditions MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontotemporal dementia with motor neuron disease MONDO:0017161;Disorders of autophagy Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 38168426;38517332;29884839 False 3 0;0;0 1.13 False ENSG00000183735 ENSG00000183735 HGNC:11584 TECPR2 gene TECPR2 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 49 MONDO:0014016 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 33213269;34130600;29884839 False 3 0;0;0 1.13 False ENSG00000196663 ENSG00000196663 HGNC:19957 TPP1 gene TPP1 Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, MIM# 204500;MONDO:0008769;Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270;MONDO:0012235 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 9295267;18684116;23418007;26224725;31283065 False 3 100;0;0 1.13 True ENSG00000166340 ENSG00000166340 HGNC:2073 VIPAS39 gene VIPAS39 Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 22753090;26808426 False 3 100;0;0 1.13 True ENSG00000151445 ENSG00000151445 HGNC:20347 VPS16 gene VPS16 Expert Review Green;Literature Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 33938619;34013567;34901436 False 3 100;0;0 1.13 True ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A Expert Review Green;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome (MIM#617303) Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 28013294;27547915 False 3 50;50;0 1.13 True ENSG00000139719 ENSG00000139719 HGNC:18179 VPS33B gene VPS33B Expert list;Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085" Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 16896922 False 3 100;0;0 1.13 True ENSG00000184056 ENSG00000184056 HGNC:12712 WDR45 gene WDR45 Expert Review Green Lysosomal Storage Disorder Metabolic conditions X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Disorders of autophagy;X-linked complex neurodevelopmental disorder MONDO:0100148 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 38465922;29884839 False 3 0;0;0 1.13 False ENSG00000196998 ENSG00000196998 HGNC:28912 ZFYVE26 gene ZFYVE26 Expert Review Green Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 15 MONDO:0010044 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 36029068;34130600;29884839 False 3 0;0;0 1.13 False ENSG00000072121 ENSG00000072121 HGNC:20761 CLCN7 gene CLCN7 Expert Review Amber;Literature Lysosomal Storage Disorder Metabolic conditions MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 31155284 False 2 0;100;0 1.13 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 HYAL1 gene HYAL1 Expert Review Amber;Victorian Clinical Genetics Services Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 10339581;18344557;21559944 False 2 0;100;0 1.13 True ENSG00000114378 ENSG00000114378 HGNC:5320 SGMS1 gene SGMS1 Expert Review Amber;Other Lysosomal Storage Disorder Metabolic conditions BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271 False 2 0;100;0 1.13 True ENSG00000198964 ENSG00000198964 HGNC:29799