Osteogenesis imperfecta
Gene: TAPT1
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
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: greenCreated: 3 Apr 2019, 4:08 p.m.
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.
Gene: tapt1 has been classified as Green List (High Evidence).
Source NHS GMS was added to TAPT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for TAPT1 were set to PMID:26365339
This gene has been classified as Green List (High Evidence).
TAPT1 was created by [email protected]
TAPT1 was added to Osteogenesis Imperfectapanel. Sources: Expert Review