Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAI2
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: DNAI2; 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, 9, with or without situs inversus, 612444
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, 8:30 a.m.
Comment on list classification: Associated with primary ciliary dyskinesia, and is green on the primary ciliary dyskinesia gene panel. Should therefore remain red in this panel.Created: 10 May 2016, 8:27 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 9, with or without situs inversus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene DNAI2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 for gene: DNAI2
Source Expert Review Green was added to DNAI2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAI2 was added gene: DNAI2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAI2 was set to