List of diseases covered by Palmoplantar Keratoderma NGS panel
Gene | Condition |
AAGAB | Keratoderma, palmoplantar, punctate type IA |
AQP5 | Palmoplantar keratoderma, Bothnian type |
DSG1 | Keratosis palmoplantaris striata I, AD; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE |
KRT1 | Palmoplantar keratoderma, epidermolytic; Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis; Ichthyosis histrix, Curth-Macklin type; Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Keratosis palmoplantaris striata III |
KRT9 | Palmoplantar keratoderma, epidermolytic |
KRT10 | Epidermolytic hyperkeratosis; Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
KRT16 | Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal |
KRT6C | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse |
SERPINB7 | Palmoplantar keratoderma, Nagashima type |
SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
TRPV3 | Olmsted syndrome; Palmoplantar keratoderma, nonepidermolytic, focal 2 |