Palmoplantar keratodermasGene: RSPO1
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: RSPO1; 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.
Source London North GLH was added to RSPO1.
gene: RSPO1 was added gene: RSPO1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO1 were set to Palmoplantar keratoderma