Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
17p11.2
ALDH3A2
aldehyde dehydrogenase 3A2
Aldehyde dehydrogenase, family 3, subfamily A, member 2 -ALDH3A2
Fatty aldehyde dehydrogenase -FALDH
Sjogren-Larsson syndrome -SLS
17p11.2
KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)
Thyrotoxic periodic paralysis, susceptibility to, 2 -TTPP2
17p12-p11.2
PMP22
peripheral myelin protein 22
Charcot-Marie-Tooth disease, type 1A -CMT1A
Charcot-Marie-Tooth disease, type 1E -CMT1E
Dejerine-Sottas Syndrome -DSSB
Neuropathy, recurrent, with pressure palsies -HNPP
17p13
ACADVL
acyl-Coenzyme A dehydrogenase, very long chain
Acyl-CoA dehydrogenase (very long chain) deficiency -VLCAD
17p13
MYH3
myosine, heavy chain 3, skeletal muscle, embryonic
Arthrogryposis, distal, type 2A -DA2A
Arthrogryposis, distal, type 2B -DA2B
17p13
?
ataxia, spastic, 2, autosomal recessive -SPAX2
17p13
MYH8
Myosin heavy chain, 8, skeletal muscle, perinatal
Myosin, heavy chain, perinatal -MYH8
17p13-p12
CHRNE
cholinergic receptor, nicotinic, epsilon
Myasthenic syndrome, slow-channel congenital -SCCMS
Myasthenic syndrome, fast-channel congenital -FCCMS
17p13.1
CHRNB1
cholinergic receptor, nicotinic, beta 1 muscle
Myasthenic syndrome, slow-channel congenital -SCCMS
Myasthenic syndrome, congenital, Ie, included -CMS1E
17p13.1
MYH2
myosin, heavy polypeptide 2, skeletal muscle
Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles -IBM3
17pter-p11
ENO3
enolase 3, beta muscle specific
Enolase deficiency -ENO3
Glycogen storage disease XIII -GSD13
17q11.2-q24
?
Malignant hyperthermia susceptibility 2 -MHS2
17q12
TCAP
telethonin
Dilated cardiomyopathy, 1N -
Congenital musuclar dystrophy with telethonin defect -
Muscular dystrophy, limb-girdle, type 2G -LGMD2G
17q13
?
Myasthenia, familial infantil, 1 -FIM1
17q21
SGCA
alpha sarcoglycan
Muscular dystrophy, limb-girdle, type 2D -LGMD2D
17q21
JUP
junction plakoglobin
naxos disease -
arrhythmogenic right ventricular dysplasia, familial, 12 -ARVD12
17q21-q23
PTRF
polymerase I and transcript release factor
lipodystrophy, congenital generalized, type 4 -CGL4
17q23
KCNJ2
potassium inwardly-rectifying channel J2
Long QT syndrome-7 -LQT7
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom -ATS
17q23-q25.3
SCN4A
sodium channel, voltage-gated, type IV, alpha
Sodium-channel myasthenia -
Paramyotonia congenita of Von Eulenburg -PMC
Hyperkalemic periodic paralysis -HYPP
Potassium-aggravated myotonia -
Myotonia potassium-aggravatd -
Hyperkalemic periodic paralysis, type 2 -HOKPP2
17q24
?
-
17q24.1
POLG2
mitochondrial DNA polymerase, accessory subunit
progressive external ophthalmoplegia, autosomal dominant, 4 -PEOA4
17q25
SEPT9
septin 9
Familial brachial plexus neuropathy -HNA
17q25.2-q25.3
GAA
acid alpha-glucosidase preproprotein
Glycogen storage disease II -GSDII