Interstitial Lung Disease
Gene: DNAAF3EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported.Created: 8 Nov 2021, 12:58 a.m. | Last Modified: 8 Nov 2021, 12:58 a.m.
Panel Version: 0.325
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 2, MIM# 606763
Publications
Suzanna Lindsey-Temple (Liverpool Hospital)
DNAAF3 is described as a new cytoplasmic factor needed for the assembly of axonemal inner and outer dynein arms.
PMID: 22387996 - Homozygous mutations in DNAAF3 were identified in two PCD families. Two different mutations were identified in these families: c.323T>C in exon 3 creating the missense variant p.Leu108Pro and c.406C>T in exon 4 creating the nonsense variant p.Arg136X. All affected individuals carried homozygous alterations, whereas the unaffected parents and siblings carried heterozygous changes, consistent with recessive inheritance. The variants in DNAAF3 were associated with immotile cilia due to lack of both outer and inner dynein arms.Created: 6 Nov 2021, 10:57 p.m. | Last Modified: 6 Nov 2021, 10:57 p.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia; Childhood bronchiectasis; chILD
Publications
- PMID: 22387996
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliary dyskinesia, primary, 2, MIM# 606763
- OMIM
- 614566
- Clinvar variants
- Variants in DNAAF3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnaaf3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, MIM# 606763
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNAAF3 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnaaf3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: DNAAF3 was added gene: DNAAF3 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal