Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAAF3
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAAF3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
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
Mode of inheritance for gene DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Source Expert Review Green was added to DNAAF3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF3 was added gene: DNAAF3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAAF3 was set to