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;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria OMIM:208400;aspartylglucosaminuria MONDO:0008830 False 3 100;0;0 3.5 False ENSG00000038002 ENSG00000038002 HGNC:318 ARSA gene ARSA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy OMIM:250100;metachromatic leukodystrophy, juvenile form MONDO:0009591 False 3 100;0;0 3.5 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200;mucopolysaccharidosis type 6 MONDO:0009661 False 3 100;0;0 3.5 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSG gene ARSG Expert Review Green;NHS GMS;North London GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV OMIM:618144;usher syndrome, type 4 MONDO:0029141 20679209;25452429;26975023;29300381;32455177;33300174 False 3 75;25;0 3.5 False ENSG00000141337 ENSG00000141337 HGNC:24102 ASAH1 gene ASAH1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis OMIM:228000;Farber lipogranulomatosis MONDO:0009218 False 3 100;0;0 3.5 False ENSG00000104763 ENSG00000104763 HGNC:735 ATP13A2 gene ATP13A2 Expert list;Expert Review Green;NHS GMS Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive OMIM:617225;autosomal recessive spastic paraplegia type 78 MONDO:0014975 28137957;31996848 False 3 100;0;0 3.5 False ENSG00000159363 ENSG00000159363 HGNC:30213 CLN3 gene CLN3 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 OMIM:204200;neuronal ceroid lipofuscinosis 3 MONDO:0008767 False 3 100;0;0 3.5 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 100;0;0 3.5 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6 OMIM:601780;neuronal ceroid lipofuscinosis 6 MONDO:0011144;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300;neuronal ceroid lipofuscinosis 4A MONDO:0008768 False 3 100;0;0 3.5 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 OMIM:600143;neuronal ceroid lipofuscinosis 8 MONDO:0010830;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003;neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 False 3 100;0;0 3.5 False ENSG00000182372 ENSG00000182372 HGNC:2079 CTNS gene CTNS Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic OMIM:219800;Cystinosis, nephropathic OMIM:219800;Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900;Cystinosis, ocular nonnephropathic OMIM:219750;nephropathic cystinosis MONDO:0100151;juvenile nephropathic cystinosis MONDO:0009066;ocular cystinosis MONDO:0009064 35137071 False 3 100;0;0 3.5 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Galactosialidosis OMIM:256540;galactosialidosis MONDO:0009737 False 3 100;0;0 3.5 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10 OMIM:610127;neuronal ceroid lipofuscinosis 10 MONDO:0012414 False 3 100;0;0 3.5 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert list;Expert Review Green;NHS GMS Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362;neuronal ceroid lipofuscinosis 13 MONDO:0014147 25274848;23297359;28749476;27668283;27524508 False 3 100;0;0 3.5 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis OMIM:265800;pycnodysostosis MONDO:0009940 False 3 100;0;0 3.5 False ENSG00000143387 ENSG00000143387 HGNC:2536 DNAJC5 gene DNAJC5 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350;neuronal ceroid lipofuscinosis 4B MONDO:0008083 False 3 100;0;0 3.5 False ENSG00000101152 ENSG00000101152 HGNC:16235 FUCA1 gene FUCA1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Fucosidosis OMIM:230000;fucosidosis MONDO:0009254 False 3 100;0;0 3.5 False ENSG00000179163 ENSG00000179163 HGNC:4006 GAA gene GAA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II OMIM:232300;glycogen storage disease II MONDO:0009290 False 3 100;0;0 3.5 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Krabbe disease OMIM:245200;Krabbe disease MONDO:0009499 False 3 100;0;0 3.5 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA OMIM:253000;mucopolysaccharidosis type 4A MONDO:0009659 False 3 100;0;0 3.5 False ENSG00000141012 ENSG00000141012 HGNC:4122 GBA gene GBA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type I OMIM:230800;Gaucher disease type I MONDO:0009265;Gaucher disease, type III OMIM:231000;Gaucher disease type III MONDO:0009267;Gaucher disease, type IIIC OMIM:231005;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268;Gaucher disease, perinatal lethal OMIM:608013;Gaucher disease perinatal lethal MONDO:0011945;Gaucher disease, type II OMIM:230900;Gaucher disease type II MONDO:0009266 False 3 100;0;0 3.5 False ENSG00000177628 ENSG00000177628 HGNC:4177 GLA gene GLA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease OMIM:301500;Fabry disease MONDO:0010526 False 3 100;0;0 3.5 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261 False 3 100;0;0 3.5 False ENSG00000170266 ENSG00000170266 HGNC:4298 GM2A gene GM2A Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant OMIM:272750;Tay-Sachs disease AB variant MONDO:0010099 False 3 100;0;0 3.5 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNE gene GNE Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria OMIM:269921;sialuria MONDO:0010028;Nonaka myopathy OMIM:605820;GNE myopathy MONDO:0011603 26721333 False 3 100;0;0 3.5 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNPTAB gene GNPTAB Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta OMIM:252500;mucolipidosis type II MONDO:0009650;Mucolipidosis III alpha/beta OMIM:252600;mucolipidosis type III MONDO:0018931 False 3 100;0;0 3.5 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma OMIM:252605;mucolipidosis type III gamma MONDO:0009652 False 3 100;0;0 3.5 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 False 3 100;0;0 3.5 False ENSG00000135677 ENSG00000135677 HGNC:4422 GUSB gene GUSB Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII OMIM:253220;mucopolysaccharidosis type 7 MONDO:0009662 False 3 100;0;0 3.5 False ENSG00000169919 ENSG00000169919 HGNC:4696 HEXA gene HEXA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease OMIM:272800;GM2-gangliosidosis, several forms OMIM:272800;Tay-Sachs disease MONDO:0010100 False 3 100;0;0 3.5 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800;Sandhoff disease MONDO:0010006 False 3 100;0;0 3.5 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930;Sanfilippo syndrome type C MONDO:0009657 False 3 100;0;0 3.5 False ENSG00000165102 ENSG00000165102 HGNC:26527 HYAL1 gene HYAL1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX OMIM:601492;mucopolysaccharidosis type 9 MONDO:0011093 27604308;10339581;21559944;26322170 False 3 50;50;0 3.5 False ENSG00000114378 ENSG00000114378 HGNC:5320 IDS gene IDS Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II OMIM:309900;mucopolysaccharidosis type 2 MONDO:0010674 False 3 100;0;0 3.5 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih OMIM:607014;Hurler syndrome MONDO:0011758;Mucopolysaccharidosis Is OMIM:607016;Scheie syndrome MONDO:0011760;Mucopolysaccharidosis Ih/s OMIM:607015;Hurler-Scheie syndromeMONDO:0011759 False 3 100;0;0 3.5 False ENSG00000127415 ENSG00000127415 HGNC:5391 LAMP2 gene LAMP2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease OMIM:300257;Danon disease MONDO:0010281 False 3 100;0;0 3.5 False ENSG00000005893 ENSG00000005893 HGNC:6501 LIPA gene LIPA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease OMIM:278000;Wolman disease OMIM:278000;lysosomal acid lipase deficiency MONDO:0010204 False 3 100;0;0 3.5 False ENSG00000107798 ENSG00000107798 HGNC:6617 MAN2B1 gene MAN2B1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II OMIM:248500;alpha-mannosidosis MONDO:0009561 False 3 100;0;0 3.5 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta OMIM:248510;beta-mannosidosis MONDO:0009562 False 3 100;0;0 3.5 False ENSG00000109323 ENSG00000109323 HGNC:6831 MCOLN1 gene MCOLN1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV OMIM:252650;mucolipidosis type IV MONDO:0009653 False 3 100;0;0 3.5 False ENSG00000090674 ENSG00000090674 HGNC:13356 MFSD8 gene MFSD8 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM:610951;neuronal ceroid lipofuscinosis 7 MONDO:0012588 False 3 100;0;0 3.5 False ENSG00000164073 ENSG00000164073 HGNC:28486 NAGA gene NAGA Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I OMIM:609241;Schindler disease, type III OMIM:609241;alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221;Kanzaki disease OMIM:609242;alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222 False 3 100;0;0 3.5 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920;Sanfilippo syndrome type B MONDO:0009656 False 3 100;0;0 3.5 False ENSG00000108784 ENSG00000108784 HGNC:7632 NEU1 gene NEU1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Sialidosis, type II OMIM:256550;Sialidosis, type I OMIM:256550;sialidosis type 2 MONDO:0009738 False 3 100;0;0 3.5 False ENSG00000204386 ENSG00000204386 HGNC:7758 NPC1 gene NPC1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type D OMIM:257220;Niemann-Pick disease, type C1 OMIM:257220;Niemann-Pick disease, type C1 MONDO:0009757 False 3 100;0;0 3.5 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2 OMIM:607625;Niemann-Pick disease, type C2 MONDO:0011873 False 3 100;0;0 3.5 False ENSG00000119655 ENSG00000119655 HGNC:14537 PPT1 gene PPT1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 OMIM:256730;neuronal ceroid lipofuscinosis 1 MONDO:0009744 False 3 100;0;0 3.5 False ENSG00000131238 ENSG00000131238 HGNC:9325 PSAP gene PSAP Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Krabbe disease, atypical OMIM:611722;Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720;Combined SAP deficiency OMIM:611721;encephalopathy due to prosaposin deficiency MONDO:0012719;Gaucher disease, atypical OMIM:610539;atypical Gaucher disease due to saposin C deficiency MONDO:0012517;Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900;metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590 False 3 100;0;0 3.5 False ENSG00000197746 ENSG00000197746 HGNC:9498 SGSH gene SGSH Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900;Sanfilippo syndrome type A MONDO:0009655 False 3 100;0;0 3.5 False ENSG00000181523 ENSG00000181523 HGNC:10818 SLC17A5 gene SLC17A5 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Salla disease OMIM:604369;Salla disease MONDO:0011449;Sialic acid storage disorder, infantile OMIM:269920;free sialic acid storage disease, infantile form MONDO:0010027 False 3 100;0;0 3.5 False ENSG00000119899 ENSG00000119899 HGNC:10933 SMPD1 gene SMPD1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A OMIM:257200;Niemann-Pick disease type A MONDO:0009756;Niemann-Pick disease, type B OMIM:607616;Niemann-Pick disease type B MONDO:0011871 False 3 100;0;0 3.5 False ENSG00000166311 ENSG00000166311 HGNC:11120 SUMF1 gene SUMF1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency OMIM:272200;mucosulfatidosis MONDO:0010088 False 3 100;0;0 3.5 False ENSG00000144455 ENSG00000144455 HGNC:20376 TPP1 gene TPP1 Expert Review Green;NHS GMS;North London GLH;Wessex and West Midlands GLH Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 OMIM:204500;neuronal ceroid lipofuscinosis 2 MONDO:0008769 False 3 100;0;0 3.5 False ENSG00000166340 ENSG00000166340 HGNC:2073 VPS16 gene VPS16 Expert Review Green;Literature Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-like syndrome (biallelic);Dystonia Associated with Lysosomal Abnormalities (monoallelic);Dystonia 30, OMIM:619291 33938619;34013567 False 3 100;0;0 3.5 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A Expert list;Expert Review Green;NHS GMS Lysosomal storage disorder Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome OMIM:617303;mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 28013294;27547915;31070736 False 3 67;33;0 3.5 False ENSG00000139719 ENSG00000139719 HGNC:18179