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  3. TAPT1
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: TAPT1

Red List (low evidence)
TAPT1 (transmembrane anterior posterior transformation 1)
EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 10 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red in line with the Red review by Steven Cowman (Bristol Royal Infirmary). No reports of relevant phenotype associated with this gene.
Created: 13 Nov 2024, 3:02 p.m. | Last Modified: 13 Nov 2024, 3:02 p.m.
Panel Version: 3.20
Created: 13 Nov 2024, 3:02 p.m.
Last Modified: 13 Nov 2024, 3:02 p.m.
Panel version: 3.20

Steven Cowman (Bristol Royal Infirmary)

Red List (low evidence)

I could not find any published reports associating variants in this gene with bronchiectasis. The phenotype reported in the publication cited above was of a complex lethal osteochondrodysplasia, and despite the multiple developmental anomalies reported, bronchiectasis was not one of them.
Created: 7 Nov 2024, 12:14 p.m. | Last Modified: 7 Nov 2024, 12:14 p.m.
Panel Version: 3.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 7 Nov 2024, 12:14 p.m.
Last Modified: 7 Nov 2024, 12:14 p.m.
Panel version: 3.19

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TAPT1; Suggested initial gene rating: Amber; Evidence for inclusion: Cause of neonatal respiratory distress.; Evidence for exclusion: Very severe perinatal syndrome, unlikely to be referred for isolated bronchiectasis.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

History Filter Activity

13 Nov 2024, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TAPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tapt1 has been classified as Red List (Low Evidence).

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TAPT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TAPT1 was added gene: TAPT1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: TAPT1 was set to