Ehlers Danlos syndromes

Gene: TPSAB1

Red List (low evidence)

TPSAB1 (tryptase alpha/beta 1)
EnsemblGeneIds (GRCh38): ENSG00000172236
EnsemblGeneIds (GRCh37): ENSG00000172236
OMIM: 191080, Gene2Phenotype
TPSAB1 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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)
OMIM
191080
Clinvar variants
Variants in TPSAB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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