Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAAF2
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: DNAAF2; 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, 10, 612518
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:38 a.m.
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:32 p.m.
Mode of inheritance
Unknown
None found yetCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 10
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 10, 612518 for gene: DNAAF2
Source Expert Review Green was added to DNAAF2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF2 was added gene: DNAAF2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAAF2 was set to