Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAH8

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH8 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004671.

The reason for the classification as follows: "DNAH8 is not expressed in the lung which is the relevant organ to the disease (PCD). Moreover, the clinical features of the PCD patient with DNAH8 mutation were not described in the reporting paper."

Created: 15 Jul 2025, 6:57 a.m. | Last Modified: 15 Jul 2025, 6:57 a.m.

Panel Version: 4.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 46, OMIM:619095; primary ciliary dyskinesia, MONDO:0016575

Red List (low evidence)

Comment on list classification: One published case and additional unpublished cases. To remain amber at present pending further evidence.

Created: 20 Jan 2019, 5:32 p.m.

Hannah Mitchison is aware of some additional unpublished cases in Spain.

Created: 20 Jan 2019, 5:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

I don't know

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber not enough published cases or other evidence to remain Green

Created: 21 Jan 2019, 5:12 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: DNAH8; Suggested initial gene rating: Green; Evidence for inclusion: One homozygous LOF mutation in a PCD patient; association not proven but biologically highly likely and a further case would likely prove this (Watson et al. (2014) Hum Mutat 35, 434).; Evidence for exclusion: Doesn't yet formally fulfill the multiple family/functional study criteria but exceptionally strong candidate.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

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

Red List (low evidence)

See Watson et al. Hum Mutat. 2014 Apr;35(4):434-41.

Created: 8 Dec 2015, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathies

Variants in this GENE are reported as part of current diagnostic practice