Respiratory ciliopathies including non-CF bronchiectasis

Gene: DAW1

Red List (low evidence)

The rating of this gene has been updated to red 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

Red List (low evidence)

Comment on list classification: The evidence available is not sufficient for the association of this gene with green rating on this panel as respiratory phenotype was present only in one patient. Expert review is being sought from Genomic Laboratory Hubs on demotion of this gene from green to red.

Created: 17 Jul 2025, 4:45 p.m. | Last Modified: 17 Jul 2025, 4:45 p.m.

Panel Version: 4.43

The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of DAW1 gene to ciliary dyskinesia, primary, 52 (MONDO:0957922) from 'Moderate' to 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008408.

ClinGen has provided the following summary as the reason(s) for change:
"The DAW1-PCD gene-disease relationship was changed to LIMITED pending more information on the respiratory and ultrastructural axoneme phenotypes of three sister patients carrying the p.Asn143Asp DAW1 variant OR the reporting of additional patients carrying biallelic DAW1 variants with laterality AND respiratory symptoms. The genetic evidence in this curation warranted scoring and the curation included strong experimental evidence from non-human model organisms, but the Motile Ciliopathy GCEP decided that this curation did not reach the level of a MODERATE classification."

Below is the summary of previously published cases:

PMID:28991257 - Two patients reported with biallelic DAW1 variants - Both of them presented with cardiac phenotypes including heterotaxy. One of them had Situs ambiguous and abdominal Situs Inversus. However, respiratory symptoms were not recorded in these patients.

PMID:36074124 - Four individuals from two different families were reported with biallelic DAW1 variants. Three individuals from the first family were reported with features suggestive of mild primary ciliary dyskinesia. One individual had situs inversus (SI) without otosinopulmonary symptoms, another had SI and had a history of recurrent otitis media in childhood and the third had normal situs but is reported with lower respiratory tract infections, chronic wet cough and recurrent episodes of otitis media in early life. An unrelated Palestinian boy was reported with congenital heart disease including heterotaxy, and Situs ambiguous, however no respiratory symptoms or Otitis media were reported.

Created: 7 Jul 2025, 9:56 a.m. | Last Modified: 17 Jul 2025, 4:44 p.m.

Panel Version: 4.42

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

Created: 4 Dec 2024, 5:04 p.m. | Last Modified: 4 Dec 2024, 5:04 p.m.

Panel Version: 3.23

The OMIM entry for this gene is OMIM:620279, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.

Created: 17 Oct 2023, 9:42 a.m. | Last Modified: 17 Oct 2023, 9:42 a.m.

Panel Version: 3.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 52, OMIM:620570

Publications

• 28991257
• 36074124

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review according to the recommendations from Helen Brittain (Genomics England, Clinical Fellow).

Created: 25 Oct 2022, 2:08 p.m. | Last Modified: 25 Oct 2022, 2:27 p.m.

Panel Version: 1.61

DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Supportive functional studies and a mouse model were also reported in PMID: 36074124.
Sources: Literature

Created: 25 Oct 2022, 12:54 p.m. | Last Modified: 25 Oct 2022, 2:07 p.m.

Panel Version: 1.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
motile ciliopathy laterality disorder

Publications

• 36074124
• 28991257