Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAAF4
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: DNAAF4; 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
Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:03 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 25; {Dyslexia, susceptibility to, 1}
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700 for gene: DNAAF4
Source Expert Review Green was added to DNAAF4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF4 was added gene: DNAAF4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAAF4 was set to