Gene product table

Protein

Gene Symbol

All allelic disease phenotypes - locus/disease symbols

sacsin

SACS (13q12)

	Spastic ataxia, Charlevoix-Saguenay type -SACS
	Autosomal recessive spastic ataxia of Charlevoix-Saguenay -ARSACS

sarcoglycan, epsilon

SGCE (7q21-q22)

Myoclonus-dystonia syndrome -DYT11

seipin

BSCL2 (11q12-q13.5)

	Spastic paraplegia 17 -SPG17
	Neuronopathy, distal hereditary motor, type V -HMN5

Selenoprotein N1

SEPN1 (1p36.13)

	myopathy, congenital, with fiber-type disproportion -CFTD
	Minicore myopathy with external ophthalmoplegia -
	Muscular dystrophy, rigid spine, 1 -MDRS1
	Rigid spine syndrome -RSS
	Minicore myopathy, severe classic form -RSMD1
	Desmin-related myopathy with Mallory bodies -RSMD1

senataxin

SETX (9q34.13)

	Neuropathy, distal hereditary motor, with pyramidal features -ALS4
	Spinocerebellar ataxia, autosomal recessive 1 -SCAR1

serine palmitoyltransferase subunit 1

SPTLC1 (9q22.2)

	Neuropathy, hereditary sensory and autonomic, type 1 -HSAN1
	Neuropathy, hereditary sensory, type 1 -HSN1

SET binding factor 2

SBF2 (11p15.4)

charcot-marie-tooth disease, type 4b2 -CMT4B2

SIL1 homolog, endoplasmic reticulum chaperone

SIL1 (5q31)

Marinesco-Sjogren syndrome -MSS

skeletal muscle receptor tyrosine kinase

MUSK (9q31.3-q32)

Congenital myasthenic syndrome with MuSK deficiency -CMS1B

slow troponin C

TNNC1 (3p21.3-p14.3)

Cardiomyopathy, dilated, 1Z -CMD1Z

slow troponin T

TNNT1 (19q13.4)

Nemaline myopathy, Amish type -ANM

SMA3

Kugelberg-Welander syndrome -KWS

sodium channel, voltage-gated, type IV, alpha

SCN4A (17q23-q25.3)

	Paramyotonia congenita of Von Eulenburg -PMC
	Hypokalemic periodic paralysis -hypoKPP
	Hypokalemic periodic paralysis type2 -hypoKPP2
	Hyperkalemic periodic paralysis -hyperKPP
	Potassium-aggravated myotonia -
	Myotonia congenita, atypical, acetazolamide-responsive -SCN4A

solute carrier family 22 member 5

SLC22A5 (5q31)

Carnitine deficiency, systemic primary -CDSP

spartin

SPG20 (13q12.3)

Spastic paraplegia 20 -SPG20

spastin

SPAST (2p24-p21)

	Spastic paraplegia 4 -SPG4
	Familial spastic paraplegia, autosomal dominant, 2 -FSP2

spastizin

ZFYVE26 (14q24.1)

Spastic paraplegia 15 -SPG15

spatacsin

SPG11 (15q14)

Spastic paraplegia 11 -SPG11

spectrin repeat containing, nuclear envelope 1 (nesprin 1)

SYNE1 (6q25)

	Spinocerebellar ataxia, autosomal recessive 8 -SCAR8
	cerebellar ataxia, autosomal recessive, type 1 -ARCA1
	Emery-dreifuss muscular dystrophy 4 -EDMD4

spectrin repeat containing, nuclear envelope 2 (nesprin 2)

SYNE2 (14q23.2)

Emery-dreifuss muscular dystrophy 5 -EDMD5

spectrin, beta, non-erythrocytic 2

SPTBN2 (11q13)

Spinocerebellar ataxia 5 -SCA5

strumpellin

KIAA0196 (8q24.13)

Spastic paraplegia 8 -SPG8

succinate-CoA ligase, ADP-forming, beta subunit

SUCLA2 (13q12.2-q13.3)

Mitochondrial dna depletion syndrome, myopathic form -MDDS4

superoxide dismutase 1, soluble

SOD1 (21q22.1)

	Amyotrophic lateral sclerosis, due to SOD1 deficiency -ALS
	Amyotrophic lateral sclerosis 1 -ALS1

survival of motor neuron 1, telomeric

SMN1 (5q13)

	Spinal muscular atrophy 1 -SMA1
	Spinal muscular atrophy 3 -SMA3
	Kugelberg-Welander Syndrome -KWS
	Spinal muscular atrophy 2 -SMA2
	Spinal muscular atrophy 4 -SMA4