Palmoplantar keratoderma and erythrokeratodermas
Gene: SLURP1
One case report of heterozygous females with very mild phenotypeCreated: 14 Mar 2017, 8:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diffuse palmoplantar keratoderma
Publications
Comment when marking as ready: Discussed with Helen Brittain who agrees with rating and both AR & AD mode of inheritance (with AR presentation associated with a more significant phenotype). Although including monoallelic inheritance may identify carrier status for a biallelic condition in some individuals, this is outweighed by potentially excluding mild cases if only biallelic inheritance were to be selected.Created: 3 Apr 2017, 9:23 a.m.
Comment on list classification: Updated rating from Amber to Green: 1 green review and sufficient (many more than 3) cases supporting causation of Mal de Meleda (MIM:248300) with relevant PPK phenotype.Created: 20 Mar 2017, 5:12 p.m.
Comment on mode of inheritance: The reviewer, Edel O'Toole, points out one case report where female carriers (heterozygotes) showed mild PPK (Mokni et al., 2004, PMID:14756676). Note that only female carriers shows symptoms. All other reported cases are biallelic, but in case mild cases are recruited, I updated MOI from 'biallelic' to 'both monoallelic and biallelic, with biallelic cases being more severe).Created: 20 Mar 2017, 4:33 p.m.
Comment on list classification: Updated rating from Red to Amber ready for External review. Not a confirmed DD gene, but >3 cases of SLURP1 variants causing Mal de Meleda skin disorder (OMIM:248300).Created: 10 Jan 2017, 4:32 p.m.
Mal de Meleda (OMIM:248300) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (Source = OMIM). >3 cases of SLURP1 variants reported for Mal de Meleda (OMIM:248300) from a range of populations, including Algerian, Tunisian, Croatian, Palestinian, Turkish and German.Created: 10 Jan 2017, 4:31 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).
Mode of inheritance for SLURP1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for SLURP1 were set to Meleda disease, 248300; Mal de Meleda (MDM); keratosis palmoplantaris transgrediens; palmoplantar keratoderma; Diffuse palmoplantar keratoderma
Mode of inheritance for SLURP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for SLURP1 were set to 9887370; 11285253; 12483299; 14756676; 25557416; 24985918; 24738704; 24604124; 23290002; 21690549; 19692209; 19120323; 17184264; 16882192; 16865292; 15026760
Phenotypes for SLURP1 were set to Meleda disease, 248300; Mal de Meleda; palmoplantar keratoderma; Diffuse palmoplantar keratoderma
This gene has been classified as Amber List (Moderate Evidence).
SLURP1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
SLURP1 was created by rfoulger