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Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAH7

Red List (low evidence)
DNAH7 (dynein axonemal heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000118997
EnsemblGeneIds (GRCh37): ENSG00000118997
OMIM: 610061, Gene2Phenotype
DNAH7 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008791.
Sources: ClinGen
Created: 14 Jul 2025, 2:47 p.m. | Last Modified: 14 Jul 2025, 2:58 p.m.
Panel Version: 4.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 50, OMIM:620356; ciliary dyskinesia, primary, 50, MONDO:0957252

Created: 14 Jul 2025, 2:47 p.m.
Last Modified: 14 Jul 2025, 2:58 p.m.
Panel version: 4.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
Phenotypes
  • Ciliary dyskinesia, primary, 50, OMIM:620356
  • ciliary dyskinesia, primary, 50, MONDO:0957252
OMIM
610061
Clinvar variants
Variants in DNAH7
Penetrance
None
Panels with this gene

History Filter Activity

14 Jul 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DNAH7 was added gene: DNAH7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH7 were set to Ciliary dyskinesia, primary, 50, OMIM:620356; ciliary dyskinesia, primary, 50, MONDO:0957252 Review for gene: DNAH7 was set to RED