Palmoplantar keratoderma and erythrokeratodermas
Gene: DSG1
Comment when marking as ready: Green rating is agreed by Helen Brittain- enough cases, reflected by PMID:27534273.Created: 3 Apr 2017, 9:03 a.m.
Comment on list classification: Updated rating from red to green: > 3 DSG1 heterozygous variants (>3 cases) listed in OMIM for palmoplantar keratoderma I, striata (PPKS1, OMIM:148700) from various populations (Dutch, German, Jewish Yemenite, Pakistani). 2 DSG1 homozygous mutations listed in OMIM for 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE' (OMIM:615508); both from consanguineous families. In both cases, parents, who were heterozygous for the mutation, displayed palmoplantar hyperkeratosis.Created: 23 Mar 2017, 10:14 a.m.
PMID:27534273 (Lovgren et al., 2016) report seven unrelated pedigrees with dominantly inherited PPK due to mutations in the DSG1 gene, with marked phenotypic variation. Mutation analysis identified one recurrent (c.76C>T, p.Arg26*) and five novel DSG1 mutations.Created: 5 Jan 2017, 5:13 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM: DSG1 is biallelic for 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE' OMIM:615508 and monoallelic for 'Keratosis palmoplantaris striata I, AD' (OMIM:148700).Created: 5 Jan 2017, 12:06 p.m.
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 DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700
Mode of inheritance for DSG1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DSG1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
DSG1 was created by rfoulger
DSG1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other