Interstitial Lung Disease
Gene: DNAAF2

DNAAF2 (dynein axonemal assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000165506
EnsemblGeneIds (GRCh37): ENSG00000165506
OMIM: 612517, Gene2Phenotype
DNAAF2 is in 8 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Agree with other reviewer's comments.
Created: 5 Nov 2021, 7:46 a.m. | Last Modified: 5 Nov 2021, 7:46 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Created: 5 Nov 2021, 7:46 a.m.
Last Modified: 5 Nov 2021, 7:46 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and supportive functional data. Alias: KTU.
Created: 18 Oct 2020, 6:18 a.m. | Last Modified: 18 Oct 2020, 6:18 a.m.

Panel Version: 0.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 10, MIM# 612518

Publications

Created: 18 Oct 2020, 6:18 a.m.
Last Modified: 18 Oct 2020, 6:18 a.m.
Panel version: Imported from Ciliary Dyskinesia panel version 0.157

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 10, MIM# 612518

OMIM

612517

Clinvar variants

Variants in DNAAF2

Penetrance

None

Publications

Panels with this gene