Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
19p13
?
Muscular dystrophy, autosomal dominant, with rimmed vacuoles -MDRV
19p13.11-q12
?
Spastic paraplegia 43, autosomal recessive -SPG43
19p13.2
DNM2
dynamin 2
centronuclear myopathy, dominant -CNM
19p13.2
DNMT1
DNA (cytosine-5)-methyltransferase 1
Hereditary sensory neuropathy with dementia and hearing loss -
Neuropathy, hereditary sensory, type 1E -HSN1E
19p13.2-p13.1
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Episodic ataxia, type 2 -EA2
Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA
Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1
Hemiplegic migraine, familial -FHM1
Spinocerebellar ataxia 6 -SCA6
Cerebellar ataxia, pure -CACNA1A
19p13.3
?
Spinocerebellar ataxia 26 -SCA26
19p13.3
PIP5K1C
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
Lethal congenital contractural syndrome 3 -LCCS3
19p13.3-p13.2
PNPLA6
patatin-like phospholipase domain containing 6
Spastic paraplegia 39, autosomal recessive -SPG39
19q13
MED25
mediator complex subunit 25
Charcot-Marie-Tooth disease, type 2B2 -CMT2B2
19q13
?
Spastic paraplegia 12 -SPG12
19q13
PRX
periaxin
Charcot-Marie-Tooth disease, type 4F -CMT4F
Dejerine-Sottas neuropathy, autosomal recessive -CMT4F
19q13
?
episodic ataxia type-7 -EA7
19q13.1
RYR1
ryanodine receptor 1 (skeletal)
myopathy, congenital, with fiber-type disproportion -CFTD
Central core disease -CCD
Malignant hyperthermia susceptibility 1 -MHS1
centronuclear myopathy, recessive -
minicore myopathy with external ophthalmoplegia -
19q13.3
DMPK
myotonic dystrophy protein kinase
Steinert disease -DM1
Myotonic dystrophy 1 -DM1
Dystrophia myotonica -DM
19q13.3
GYS1
glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
glycogen storage disease type 0 -GSD0b
19q13.3-q13.4
ETFB
electron-transfer-flavoprotein, beta polypeptide
Electron transfer flavoprotein, Beta polypeptide -ETFB
19q13.3-q13.4
KCNC3
potassium voltage-gated channel, Shaw-related subfamily, member 3
Spinocerebellar ataxia 13 -SCA13
19q13.33
FKRP
fukutin-related protein
Walker-Warburg syndrome -WWS3
Muscle-eye-brain disease -MEB
Muscular dystrophy, congenital, 1C -MDC1C
Muscular dystrophy, limb-girdle, type 2I -LGMD2I
19q13.4
TNNT1
slow troponin T
Nemaline myopathy 5 -NEM5
19q13.4
TNNI3
troponin I, cardiac
Cardiomyopathy, familial restrictive -RCM
Cardiomyopathy, familial hypertrophic -CMH7
19q13.4
PRKCG
protein kinase C, gamma
Spinocerebellar ataxia 14 -SCA14