Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAI1
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: DNAI1; 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, 1, with or without situs inversus, 244400
Variants in this GENE are reported as part of current diagnostic practice
Two reported cases with Respiratory presentation/ infertility but no reported cardiac association. Evidence considered amber for cardiac isomerism / laterality phenotypeCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; situs inversus
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 Ciliary dyskinesia, primary, and is green on the Primary Ciliary dyskinesia gene panel. Should remain red for this panel.Created: 10 May 2016, 8:24 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 1, with or without situs inversus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Important to exclude the known PCD variants in suspected idiopathic bronchiectasisCreated: 17 Oct 2015, 7:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCD phenotypes
Publications
Mode of inheritance for gene DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAI1
Source Expert Review Green was added to DNAI1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAI1 was added gene: DNAI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAI1 was set to