Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAJB13

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Dec 2025, 4:33 p.m. | Last Modified: 11 Dec 2025, 4:33 p.m.

Panel Version: 4.50

Green List (high evidence)

In addition to the below cases there is now a third report of three siblings from a consanguineous family who were all homozygous for an insertion-deletion variant predicted to be pathogenic (c.92_95delinsGAG; p.His31Argfs*4). All three siblings had low nasal NO, abnormal ciliary beat pattern on HSVM and structural abnormalities on TEM, although only one had bronchiectasis evident on CT scan.

Created: 5 Aug 2025, 2:44 p.m. | Last Modified: 5 Aug 2025, 2:44 p.m.

Panel Version: 4.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

• 40637281

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (three unrelated cases from two different publications) for the promotion of this gene to green rating in the next GMS update.

Created: 7 Jul 2025, 9:10 a.m. | Last Modified: 7 Jul 2025, 9:10 a.m.

Panel Version: 4.19

The ClinGen Motile Ciliopathy expert panel has classified the association of DNAJB13 gene to primary ciliary dyskinesia 34 (MONDO:0014909) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008877.

This gene is associated with 'Ciliary dyskinesia, primary, 34' phenotype in OMIM (MIM #617091) - OMIM accessed on 7 July 2025.

There is an additional published case reported in PMID: 35166991. A novel homozygous frameshift variant (c.335_336del [p.Glu112Valfs*3]) variant was identified in a primary infertile male patient. The patient had abnormal sperm morphology, with recurrent respiratory infections and chronic cough.

Created: 7 Jul 2025, 9:08 a.m. | Last Modified: 31 Oct 2025, 9:21 a.m.

Panel Version: 4.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34, OMIM:617091

Publications

• 35166991

I don't know

Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."

Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:22 a.m.

Panel Version: 1.55

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:22 a.m.

Panel Version: 1.55

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype; however, there are only 2 reported cases. Therefore, there is currently not enough evidence for this gene to be Green. This gene should be demoted to Amber at the next review.

Created: 2 Dec 2020, 2:54 p.m. | Last Modified: 2 Dec 2020, 2:54 p.m.

Panel Version: 1.39

I don't know

Two unrelated families reported.

Created: 25 May 2020, 7:24 a.m. | Last Modified: 25 May 2020, 7:24 a.m.

Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 34, MIM# 617091

Publications

• 27486783

Green List (high evidence)

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: DNAJB13; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

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