Ehlers Danlos syndrome with a likely monogenic cause
Gene: TPSAB1
TPSAB1 (tryptase alpha/beta 1)
EnsemblGeneIds (GRCh38): ENSG00000172236
EnsemblGeneIds (GRCh37): ENSG00000172236
OMIM: 191080, Gene2Phenotype
TPSAB1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000172236
EnsemblGeneIds (GRCh37): ENSG00000172236
OMIM: 191080, Gene2Phenotype
TPSAB1 is in 2 panels
1 review
Louise Daugherty (Genomics England Curator)
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
Unknown
Phenotypes
?Mast cell dysfunction (with joint hypermobility)
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review
- Literature
- Phenotypes
-
- ?Mast cell dysfunction (with joint hypermobility)
- Tags
- OMIM
- 191080
- Clinvar variants
- Variants in TPSAB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
7 Feb 2023, Gel status: 1
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: TPSAB1.
25 Jul 2017, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
20 Apr 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)TPSAB1 was created by LouiseD
20 Apr 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)TPSAB1 was added to Ehlers-Danlos syndromespanel. Sources: Literature,Expert Review