chromosome | gene symbol | phenotype |
| 21q22.1 | SOD1 superoxide dismutase 1, soluble | Amyotrophic lateral sclerosis, due to SOD1 deficiency -ALS
Amyotrophic lateral sclerosis 1 -ALS1
|
| 21q22.1-q22.2 | KCNE1 potassium voltage-gated channel, Isk-related family, member 1 | Long QT syndrome-5 -LQT5
Jervell and Lange-Nielsen syndrome -JLNS1
|
| 21q22.12 | KCNE2 potassium voltage-gated channel, Isk-related family, member 2 | Long QT syndrome-6 -LQT6
Atrial fibrillation, 1 -ATFB1
|
| 21q22.3 | COL6A1 alpha 1 type VI collagen | Bethlem myopathy -
Ullrich congenital muscular dystrophy -UCMD
Ossification of the posterior longitudinal spinal ligaments -OPLL
|
| 21q22.3 | COL6A2 alpha 2 type VI collagen | Bethlem myopathy -
Ullrich scleroatonic muscular dystrophy -UCMD
|