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Prepair 1000+

Gene: DNAAF4

Green List (high evidence)

DNAAF4 (dynein axonemal assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000256061
EnsemblGeneIds (GRCh37): ENSG00000256061
OMIM: 608706, Gene2Phenotype
DNAAF4 is in 6 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, multiple families and animal model. Note there is a common 3.5kb affecting exon 7, possible founder effect.

PMID: 23872636 Seven of twleve individuals had neonatal respiratory distress syndrome. Age of testing ranged from 8y - 73y. Most had outer dynein arms (ODA) and inner dynein arms (IDA)
Created: 11 Mar 2025, 3:45 a.m. | Last Modified: 11 Mar 2025, 3:45 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 25, MIM#615482

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 (3)
OMIM
608706
Clinvar variants
Variants in DNAAF4
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAAF4 was added gene: DNAAF4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)