Heterotaxy
Gene: DNAAF5EnsemblGeneIds (GRCh38): ENSG00000164818
EnsemblGeneIds (GRCh37): ENSG00000164818
OMIM: 614864, Gene2Phenotype
DNAAF5 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
9 Amish individuals and another family reported with bi-allelic variants, supportive functional data. Variable situs inversus.Created: 18 Oct 2020, 9:20 a.m. | Last Modified: 18 Oct 2020, 9:20 a.m.
Panel Version: 0.131
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 18, MIM# 614874
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ciliary dyskinesia, primary, 18, MIM# 614874
- OMIM
- 614864
- Clinvar variants
- Variants in DNAAF5
- 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: dnaaf5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, MIM# 614874
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNAAF5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DNAAF5 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: DNAAF5 was added gene: DNAAF5 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAAF5 was set to Unknown