Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT16Comment when marking as ready: 1 Green review plus 3 KRT16 variants recorded in OMIM for Palmoplantar keratoderma, nonepidermolytic, focal (FNEPPK1, OMIM:613000) including one deletion. >3 KRT16 variants in OMIM for Pachyonychia congenita (PC1; OMIM:167200). Lots of literature linking KRT16 with these skin disorders.Created: 5 Jan 2017, 2:11 p.m.
Comment on list classification: Updated rating from Amber to green: 1 green review plus >3 KRT16 variants in OMIM associated with palmoplantar keratoderma.Created: 5 Jan 2017, 2:11 p.m.
Comment on mode of inheritance: Mode of inheritance suggested by reviewer, and confirmed by OMIM.Created: 5 Jan 2017, 2:03 p.m.
All patients with KRT16 mutation will have plantar painCreated: 16 Nov 2015, 8:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita; focal keratoderma; striate keratoderma (palmar) and focal keratoderma (plantar)
Publications
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); FNEPPK1; striate keratoderma (palmar); focal keratoderma (palmar); Pachyonychia congenita (PC)
Publications for KRT16 were set to 7539673; 8595410; 21790523; 21160496
Phenotypes for KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); focal keratoderma (palmar); Pachyonychia congenita (PC)
Phenotypes for KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); focal keratoderma (palmar)
Mode of inheritance for KRT16 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT16 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
KRT16 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT16 was created by ellenmcdonagh
KRT16 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing