Respiratory ciliopathies including non-CF bronchiectasis

Gene: STK36

I don't know

The ClinGen Motile Ciliopathy expert panel has classified the association of STK36 gene to ciliary dyskinesia, primary, 46 (MONDO:0030332) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008521. However, this 'moderate' rating in ClinGen was based on evidence from a single reported human case and experiment evidence from both non-human models and patient cell line.

This evidence is only sufficient for an amber rating, as per rating criteria used by PanelApp.

Created: 7 Jul 2025, 9:28 a.m. | Last Modified: 17 Jul 2025, 4:34 p.m.

Panel Version: 4.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Ciliary dyskinesia, primary, 41, OMIM:618449

Red List (low evidence)

Single case report.

Created: 20 Jan 2019, 5:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID:28543983

I don't know

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber. Only 1 case PMID:28543983

Created: 21 Jan 2019, 5:14 p.m.

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: STK36; Suggested initial gene rating: Green; Evidence for inclusion: Single case report but LOF homozygote, with TEM localisation to motile cilia; very strong candidate, extra cases needed to confirm association. Edelbusch et al. Hum Mutat. 2017 Aug;38(8):964-969. ; Evidence for exclusion: Only one reported case (albeit with some reasonably convincing cellular studies); Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 1:54 p.m.