Ichthyosis and erythrokeratodermaGene: SLURP1
One case report of heterozygous females with very mild phenotype
Created: 14 Mar 2017, 8:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Diffuse palmoplantar keratoderma
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.
gene: SLURP1 was added gene: SLURP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SLURP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLURP1 were set to 16865292; 24738704; 14756676; 9887370; 25557416; 12483299; 24985918; 19692209; 17184264; 24604124; 16882192; 15026760; 11285253; 21690549; 23290002; 19120323 Phenotypes for gene: SLURP1 were set to keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300