Primary ciliary disorders
Gene: DNAAF3
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
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene DNAAF3 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
DNAAF3 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory