Ciliary Dyskinesia
Gene: DNAAF1EnsemblGeneIds (GRCh38): ENSG00000154099
EnsemblGeneIds (GRCh37): ENSG00000154099
OMIM: 613190, Gene2Phenotype
DNAAF1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 families reported, laterality defects variable, mouse model.Created: 18 Oct 2020, 4:58 a.m. | Last Modified: 18 Oct 2020, 4:58 a.m.
Panel Version: 0.154
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 13, MIM# 613193
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ciliary dyskinesia, primary, 13, MIM# 613193
- OMIM
- 613190
- Clinvar variants
- Variants in DNAAF1
- 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: dnaaf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, MIM# 613193
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNAAF1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DNAAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNAAF1 was added gene: DNAAF1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAAF1 was set to Unknown