Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAH14

Red List (low evidence)

DNAH14 (dynein axonemal heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000185842
EnsemblGeneIds (GRCh37): ENSG00000185842
OMIM: 603341, Gene2Phenotype
DNAH14 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel is currently reviewing the evidence for the association of DNAH14 gene to primary ciliary dyskinesia (MONDO:0016575). More information can be found in https://search.clinicalgenome.org/kb/genes/HGNC:2945.
Sources: ClinGen
Created: 15 Jul 2025, 6:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia, MONDO:0016575

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
Phenotypes
  • primary ciliary dyskinesia, MONDO:0016575
OMIM
603341
Clinvar variants
Variants in DNAH14
Penetrance
None
Panels with this gene

History Filter Activity

17 Jul 2025, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag disputed was removed from gene: DNAH14.

17 Jul 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag disputed tag was added to gene: DNAH14.

15 Jul 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DNAH14 was added gene: DNAH14 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH14 were set to primary ciliary dyskinesia, MONDO:0016575 Review for gene: DNAH14 was set to RED