Palmoplantar keratodermasGene: MBTPS2
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: MBTPS2; 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
Source London North GLH was added to MBTPS2.
gene: MBTPS2 was added gene: MBTPS2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Olmstedt syndrome; IFAP syndrome; Keratosis follicularis spinulosa decalvans