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Table 1 Genes included in the NGS-LSD assay and their associated disorders

From: Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Gene Lysosomal storage dirorder
SMPD1 Niemann-Pick Disease, Type A and B
NPC1 Niemann-Pick Disease, Type C1
NPC2 Niemann-Pick Disease, Type C2
LIPA Wolman Disease
GLA Fabry Disease
GLB1 GM1-Gangliosidosis, Type I, II, III
GM2A GM2-Gangliosidosis, AB Variant
HEXA Tay-Sachs Disease
HEXB Sandhoff Disease
GBA Gaucher Disease
GAA Pompe Disease
IDUA MPS I: Hurler/Scheie
IDS MPS II: Hunter Syndrome
SGSH MPS IIIA: Sanfilippo Type A
NAGLU MPS IIIB: Sanfilippo Type B
HGSNAT MPS IIIC: Sanfilippo Type C
GNS MPS IIID: Sanfilippo Type D
GLB1 MPS IVB: Morquio B
ARSB MPS VI: Maroteaux-Lamy Syndrome
GUSB MPS VII: Sly Syndrome
ASAH1 Farber Disease
ARSA Metachromatic Leukodystrophy
GALC Krabbe Disease
PSAP Prosaposin deficiency
NEU1 Mucolipidosis I: Sialidosis
FUCA1 Fucosidosis
LAMP2 Danon Disease: Glycogen Storage Disease IIB
LAMP3 Candidate Gene For LSD
GNPTAB Mucolipidosis II Alpha/Beta
GNPTG Mucolipidosis III Gamma
MCOLN1 Mucolipidosis IV: Sialolipidosis
MAN2B1 Mannosidosis, Alpha B, Lysosomal
MANBA Mannosidosis, Beta A, Lysosomal
PPT1 Ceroid Lipofuscinosis, Neuronal, 1
TPP1 Ceroid Lipofuscinosis, Neuronal, 2
CLN3 Ceroid Lipofuscinosis, Neuronal, 3 (Batten Disease)
CLN5 Ceroid Lipofuscinosis, Neuronal, 5
CLN6 Ceroid Lipofuscinosis, Neuronal, 6
CLN7 Ceroid Lipofuscinosis, Neuronal, 7
CLN8 Ceroid Lipofuscinosis, Neuronal, 8
CLN10 Ceroid Lipofuscinosis, Neuronal, 10
CTSA Galactosialidosis
CTNS Cystinosis
SLC17A5 Sialic Acid Storage Disease
CTSK Pyknodysostosis
NAGA Schindler Disease
SUMF1 Multiple Sulfatase Deficiency
HPS1 Hermansky-Pudlak Syndrome Type 1
AP3B1 Hermansky-Pudlak Syndrome Type 2
HPS3 Hermansky-Pudlak Syndrome Type 3
HPS4 Hermansky-Pudlak Syndrome Type 4
HPS5 Hermansky-Pudlak Syndrome Type 5
HPS6 Hermansky-Pudlak Syndrome Type 6
DTNBP1 Hermansky-Pudlak Syndrome Type 7
BLOC1S3 Hermansky-Pudlak Syndrome Type 8