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Prepair 1000+

Gene: DNAAF3

Green List (high evidence)
DNAAF3 (dynein axonemal assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Condition usually beginning in early childhood, characterized by chronic cough, recurrent infections of the upper and lower respiratory tract, randomisation of left/right body asymmetry, and subfertility.
More than 7 unrelated families reported.
Functional and animal studies are present displaying similar disease to that of humans.
Created: 25 Oct 2024, 11:42 a.m. | Last Modified: 25 Oct 2024, 11:42 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 2 MIM#606763

Publications

Created: 25 Oct 2024, 11:42 a.m.
Last Modified: 25 Oct 2024, 11:42 a.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 2, MIM#606763
OMIM
614566
Clinvar variants
Variants in DNAAF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnaaf3 has been classified as Green List (High Evidence).

30 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAAF3 were changed from Ciliary dyskinesia, primary, 2, 606763 (3) to Ciliary dyskinesia, primary, 2, MIM#606763

30 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAAF3 were set to

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: DNAAF3 was added gene: DNAAF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)