Palmoplantar keratodermas

Gene: SLURP1

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 31 Jan 2023, 2:38 p.m. | Last Modified: 31 Jan 2023, 2:38 p.m.

Panel Version: 2.6

Meleda disease is a rare autosomal recessive skin disorder characterised by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities. There is one case report where female carriers (heterozygotes) showed mild PPK (Mokni et al., 2004, PMID:14756676). Note that only female carriers shows symptoms.

The MOI was previously changed to both AR & AD on the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and 'R165 Ichthyosis and erythrokeratoderma' GMS panel to ensure mild cases are not missed and therefore the MOI on this panel (R166) should also be updated accordingly.

Created: 28 Mar 2022, 10:21 a.m. | Last Modified: 28 Mar 2022, 10:21 a.m.

Panel Version: 1.13

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Meleda disease, OMIM:248300

Publications

• 14756676

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SLURP1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.

Created: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice