List of diseases covered by
Hereditary Spastic Paraplegia NGS panel

Gene Condition
AMACR Alpha-methylacyl-CoA racemase deficiency;
Bile acid synthesis defect, congenital, 4
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ARG1 Argininemia
ATL1 Spastic paraplegia 3A, autosomal dominant;
Neuropathy, hereditary sensory, type ID
AP4B1 Spastic paraplegia 47, autosomal recessive
AP4E1 Spastic paraplegia 51, autosomal recessive
AP4M1 Spastic paraplegia 50, autosomal recessive
AP4S1 Spastic paraplegia 52, autosomal recessive
AP5Z1 Spastic paraplegia 48, autosomal recessive
B4GALNT1 Spastic paraplegia 26, autosomal recessive
BSCL2 Encephalopathy, progressive, with or without lipodystrophy;
Lipodystrophy, congenital generalized, type 2;
Neuropathy, distal hereditary motor, type VA;
Silver spastic paraplegia syndrome
CYP7B1 Spastic paraplegia 5A, autosomal recessive;
CYP2U1 Spastic paraplegia 56, autosomal recessive
CYP27A1 Cerebrotendinous xanthomatosis
DDHD1 Spastic paraplegia 28, autosomal recessive
DDHD2 Spastic paraplegia 54, autosomal recessive
ERLIN2 Spastic paraplegia 18, autosomal recessive
FA2H Spastic paraplegia 35, autosomal recessive
GBA2 Spastic paraplegia 46, autosomal recessive
GJC2 Spastic paraplegia 44, autosomal recessive;
Leukodystrophy, hypomyelinating, 2; Lymphedema, hereditary, IC
HSPD1 Spastic paraplegia 13, autosomal dominant;
Leukodystrophy, hypomyelinating, 4
KIF1A Spastic paraplegia 30, autosomal recessive;
Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC
KIF5A Spastic paraplegia 10, autosomal dominant;
Amyotrophic lateral sclerosis, susceptibility to, 25;
Myoclonus, intractable, neonatal
L1CAM CRASH syndrome; Corpus callosum, partial agenesis of;
Hydrocephalus due to aqueductal stenosis
MTHFR Homocystinuria due to MTHFR deficiency
NIPA1 Spastic paraplegia 6, autosomal dominant
PAH Phenylketonuria;
[Hyperphenylalaninemia, non-PKU mild]
PEX1 Heimler syndrome 1;
Peroxisome biogenesis disorder 1A (Zellweger);
Peroxisome biogenesis disorder 1B (NALD/IRD)
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PLP1 Spastic paraplegia 2, X-linked; Pelizaeus-Merzbacher disease
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome
REEP1 Spastic paraplegia 31, autosomal dominant;
Neuronopathy, distal hereditary motor, type VB
RTN2 Spastic paraplegia 12, autosomal dominant
SLC16A2 Allan-Herndon-Dudley syndrome
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SPART Troyer syndrome
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPG11 Spastic paraplegia 11, autosomal recessive;
Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X
SPG21 Mast syndrome
TECPR2 Spastic paraplegia 49, autosomal recessive
VPS37A Spastic paraplegia 53, autosomal recessive
WASHC5 Spastic paraplegia 8, autosomal dominant;
Ritscher-Schinzel syndrome 1
ZFYVE26 Spastic paraplegia 15, autosomal recessive