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  3. DNAH6
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAH6

Red List (low evidence)
DNAH6 (dynein axonemal heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000115423
EnsemblGeneIds (GRCh37): ENSG00000115423
OMIM: 603336, Gene2Phenotype
DNAH6 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH6 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:008758.

The reason for the classification as follows:
"At this time, the only DNAH6 variant containing individuals present in the literature have limited to no features of PCD. No scorable case level genetic evidence for PCD was obtained for this curation."

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Created: 15 Jul 2025, 6:45 a.m. | Last Modified: 15 Jul 2025, 6:45 a.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia, MONDO:0016575

Created: 15 Jul 2025, 6:45 a.m.
Last Modified: 15 Jul 2025, 6:45 a.m.
Panel version: 4.36

Louise Daugherty (Genomics England Curator)

I don't know

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: DNAH6; Suggested initial gene rating: Amber; Evidence for inclusion: Dynein arm gene (biological link to motile cilia); Evidence for exclusion: No association yet with PCD.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • primary ciliary dyskinesia, MONDO:0016575
Tags
disputed
OMIM
603336
Clinvar variants
Variants in DNAH6
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: DNAH6.

15 Jul 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DNAH6 were changed from to primary ciliary dyskinesia, MONDO:0016575

15 Jul 2025, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: DNAH6 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2025, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: dnah6 has been classified as Red List (Low Evidence).

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to DNAH6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DNAH6 was added gene: DNAH6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH6 was set to