Ehlers Danlos syndromesGene: TPSAB1
Added from suggestion from Dr Anthony Vandersteen : Lyons et al (2016) PMID: 27749843 ascertained families with autosomal dominant mast cell dysfunction and found an enrichment for hypermobile patients, so this may not be the primary pathogenic variant for hEDS but is a very good candidate. No one knows and I presume that the WGS technology in your study could pick this up.
Created: 20 Apr 2017, 10:01 a.m.
Mode of inheritance
?Mast cell dysfunction (with joint hypermobility)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
TPSAB1 was created by LouiseD
TPSAB1 was added to Ehlers-Danlos syndromespanel. Sources: Literature,Expert Review