Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT17Comment when marking as ready: Rated as green by review plus >3 variants in OMIM, and mode of inheritance complete based on literature evidence.Created: 5 Jan 2017, 3:52 p.m.
Comment on mode of inheritance: Changed the mode-of-inheritance to 'Both monoallelic and biallelic, with biallelic being more severe based on the two homozygous probands in PMID:22336949.Created: 5 Jan 2017, 3:50 p.m.
Comment on list classification: Updated rating from Amber to green: 1 Green review plus >3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).Created: 5 Jan 2017, 2:40 p.m.
>3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).Created: 5 Jan 2017, 2:40 p.m.
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.Created: 5 Jan 2017, 2:39 p.m.
Although homozygosity for dominant mutations in keratin genes is rare, PMID:22336949 (Wilson et al., 2012) present two families with a proband containing homozygous mutations in KRT17 (c.275A4G, p.Asn92Ser in Family 1 and c.280C4T, p.ARg94Cyc in Family 2). The features typical of Pachyonychia congenita (PC) were more severe in the homozygous cases than heterozygotes, and the additional feature of hair loss was seen in both cases.Created: 5 Jan 2017, 2:39 p.m.
Two families reported with homozygous dominant mutations (both parents ? affected). More severe phenotype with alopecia. PMID:
22336949Created: 16 Nov 2015, 8:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pachyonychia congenita; steatocystoma multiplex
Publications
Phenotypes for gene: KRT17 were changed from Pachyonychia Congenita, Type 2; Pachyonychia congenita, Jackson-Lawler type, 167210; Steatocystoma multiplex, 184500 to Pachyonychia congenita 2, OMIM:167210; Steatocystoma multiplex, OMIM:184500
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).
Mode of inheritance for KRT17 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for KRT17 were set to Pachyonychia Congenita, Type 2; Pachyonychia congenita, Jackson-Lawler type, 167210; Steatocystoma multiplex, 184500
Publications for KRT17 were set to 7539673; 9008238; 15102078; 19659471; 22336949
Mode of inheritance for KRT17 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
KRT17 was created by ellenmcdonagh
KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing