Osteogenesis imperfecta

Gene: TAPT1

I don't know

Two families reported only.

Created: 4 May 2020, 11:04 a.m. | Last Modified: 4 May 2020, 11:04 a.m.

Panel Version: 2.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)

Publications

• 26365339

Green List (high evidence)

I don't know

Comment on list classification: Leaving rating as green; 2 cases reported, supportive zebrafish data and green review by NHS expert.

Created: 16 Sep 2021, 1:25 p.m. | Last Modified: 16 Sep 2021, 1:25 p.m.

Panel Version: 2.36

Only 2 cases reported but PMID: 26365339 - Symoens et al 2015 - also report that knock-down of zebrafish tapt1b resulted in severe malformations of the craniofacial skeleton and delayed ossification.

PMID: 17151244 - Howell et al 2007 - also reports a skeletal phenotype in a mouse with a homozygous mutation in Tapt1, primarily posterior-to-anterior transformations of the vertebral column midsection.

Created: 16 Sep 2021, 1:23 p.m. | Last Modified: 16 Sep 2021, 1:23 p.m.

Panel Version: 2.35

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TAPT1; Suggested initial gene rating: green

Created: 3 Apr 2019, 4:08 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Gene added by a reviewer and rated green. It is a probable DD gene for complex lethal osteochondrodysplasia. 2 families are reported in OMIM for Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, from one recent publication. The phenotype includes multiple fractures, therefore it was decided this should be included on the OI panel.

Created: 12 May 2016, 1:59 p.m.