Primary ciliary disorders
Gene: DNAAF3EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 2, 606763
Variants in this GENE are reported as part of current diagnostic practice
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 2
Publications
- PMID:22387996
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Primary Ciliary Dyskinesia
- Ciliary dyskinesia, primary, 2, 606763
- OMIM
- 614566
- Clinvar variants
- Variants in DNAAF3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory