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
|