| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ichthyosis and erythrokeratoderma v1.36 | KRT16 |
Ivone Leong Added comment: Comment 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.36 | KRT16 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | KRT16 |
Ellen McDonagh 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||