chromosome | gene symbol | phenotype |
| 3p12 | GBE1 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) | Glycogen branching enzyme deficiency -GSD IV
|
| 3p21 | DAG1 Dystroglycan1 (dystrophin-associated glycoprotein 1) | Muscular dystrophy-dystroglycanopathy (limb-girdle) -MDDGC7
|
| 3p21 | SCN5A voltage-gated sodium channel type V alpha | Progressive familial heart block, type I -PFHBI
Hereditary bundle branch system defect -HBBD
Cardiac conduction defect, progressive -PCCD
Brugada syndrome -SCN5A
Cardiomyopathy, dilated, 1E -CMD1E
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF
Long QT syndrome-3 -LQT3
Sick Sinus Syndrome 1, autosomal recessive -SSS1
|
| 3p21 | LAMB2 laminin, beta 2 (laminin S) | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien -
|
| 3p21.1-p12 | ATXN7 ataxin 7 | Spinocerebellar ataxia 7 -SCA7
Olivopontocerebellar atrophy III -OPCA3
|
| 3p21.3-p14.3 | TNNC1 slow troponin C | Cardiomyopathy, dilated, 1Z -CMD1Z
Familial hypertrophic cardiomyopathy, 13 -CMH13
|
| 3p21.3-p21.2 | MYL3 myosin light chain 3 | Cardiomopathy, hypertrophic, mid-ventricular chamber type -MYL3
|
| 3p21.31 | SLC25A20 carnitine-acylcarnitine translocase | Carnitine-acylcarnitine translocase deficiency -CACT
|
| 3p22.2-p21.32 | ? | Hyalin body myopathy -HBM
|
| 3p22.3 | GPD1L glycerol-3-phosphate dehydrogenase 1-like | brugada syndrome 2 -
|
| 3p23-21 | ? | Congenital muscle dystrophy with joint hyperlaxity -
|
| 3p23-p25 | ? | Limb-girdle, muscular dystrophy, type 1h -LGMD1H
|
| 3p24-p22 | ? | hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag -HSAN1B
|
| 3p25 | CAV3 caveolin 3 | Distal myopathy with caveolin defect -
Long QT syndrome 9 -LQT9
Hyperckemia, idiopathic -
Creatine phosphokinase, elevated serum -CPK
cardiomyopathy, familial hypertrophic -CMH
Rippling muscle disease -RMD2
Muscular dystrophy, limb-girdle, type IC -LGMD1C
|
| 3p25 | COLQ acetylcholinesterase collagen-like tail subunit | Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency -EAD
|
| 3p25.1 | TMEM43 transmembrane protein 43 | luma related muscular dystrophy -
arrhythmogenic right ventricular dysplasia, familial, 5 -ARVD5
|
| 3p25.3-p24.3 | ABHD5 abhydrolase domain containing 5 | Chanarin-Dorfman syndrome -CDS
|
| 3p26 | ? | Cerebellar ataxia, congenital, nonprogressive, autosomal dominant -SCA29
|
| 3p26.1-p25.3 | ITPR1 Inositol 1,4,5-triphosphate receptor type 1 | Spinocerebellar ataxia 15 -SCA15
|
| 3q13.1 | ? | Hereditary motor and sensory, neuropathy, proximal, type -HMSNP
Neuropathy, hereditary motor and sensory, Okinawa type -HMSNO
|
| 3q13.1 | ? | Malignant hyperthermia susceptibility 4 -MHS4
|
| 3q21 | RAB7 member RAS oncogene family | Charcot-Marie-Tooth neuropathy Type 2B -CMT2B
|
| 3q21 | ZNF9 zinc finger protein 9 | Proximal myotonic myopathy -PROMM
Myotonic dystrophy, type 2 -DM2
|
| 3q21-q23 | MRPL3 mitochondrial ribosomal protein L3 | Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect -
|
| 3q24 | GYG1 | Glycogen storage disease XV -GSD15
|
| 3q25.3 | SLC33A1 acetyl-Coenzyme A transporter acetyl-Coenzyme A transportersolute carrier family 33 (acetyl- CoA transporter) | Spastic paraplegia 42, autosomal dominant -SPG42
|
| 3q27-q28 | ? | Spastic paraplegia 14 -SPG14
|
| 3q28-q29 | OPA1 mitochondrial dynamin-like GTPase | optic atrophy 1 and deafness -
|