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Osteogenesis imperfecta

Gene: TAPT1

Green List (high evidence)

TAPT1 (transmembrane anterior posterior transformation 1)
EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 11 panels

5 reviews

Zornitza Stark (Australian Genomics)

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

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteogenesis Imperfecta
OMIM
612758
Clinvar variants
Variants in TAPT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TAPT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TAPT1 were set to PMID:26365339

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Nov 2015, Gel status: 0

Added New Source

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

TAPT1 was added to Osteogenesis Imperfectapanel. Sources: Expert Review

27 Nov 2015, Gel status: 0

Created

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

TAPT1 was created by [email protected]