|
Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- 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)
|
|
Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Pachyonychia congenita 1, OMIM:167200
- Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
|
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Palmoplantar keratoderma, nonepidermolytic, focal, 613000
- Pachyonychia congenita 1, 167200
|