TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation disease BEFREE In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well. 19170735 2009