Ichthyosis and erythrokeratoderma
Gene: KRT16Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)Created: 23 Mar 2021, 3:20 p.m. | Last Modified: 23 Mar 2021, 3:20 p.m.
Panel Version: 1.36
Comment 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
Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
gene: KRT16 was added gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673 Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)