Heterotaxy
Gene: DNAAF2

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Aka KTU gene

OMIM: Alternative disease title
CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS

PMID: 19052621 - 2/3 patients with primary cilia dyskinesia have complete situs inversus, 1/3 has situs solitus (two affecteds are siblings). Zebrafish mutants lack KV liquid flow

PMID: 31107948 - notes a laterality defect frequency of 40% among patients. Null mice also have left/right defects

Summary: two reported families and two animal models
Created: 1 Jun 2020, 12:29 a.m. | Last Modified: 1 Jun 2020, 12:29 a.m.

Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 10 612518

Publications

PMID: 19052621
31107948

Created: 1 Jun 2020, 12:29 a.m.
Last Modified: 1 Jun 2020, 12:29 a.m.
Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 10 612518

OMIM

612517

Clinvar variants

Variants in DNAAF2

Penetrance

None

Publications

Panels with this gene