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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. TEKT1
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: TEKT1

Red List (low evidence)
TEKT1 (tektin 1)
EnsemblGeneIds (GRCh38): ENSG00000167858
EnsemblGeneIds (GRCh37): ENSG00000167858
OMIM: 609002, Gene2Phenotype
TEKT1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive TEKT1 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:008874.
Sources: ClinGen
Created: 15 Jul 2025, 6:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia, MONDO:0016575

Created: 15 Jul 2025, 6:25 a.m.

Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
Phenotypes
  • primary ciliary dyskinesia, MONDO:0016575
Tags
disputed
OMIM
609002
Clinvar variants
Variants in TEKT1
Penetrance
None
Panels with this gene

History Filter Activity

17 Jul 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag disputed tag was added to gene: TEKT1.

15 Jul 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TEKT1 were changed from to primary ciliary dyskinesia, MONDO:0016575

15 Jul 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TEKT1 was added gene: TEKT1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: TEKT1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: TEKT1 was set to RED