Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAL1
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: DNAL1; 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, 16, 614017
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, 8:34 a.m.
Comment on list classification: Associated with Ciliary dyskinesia, primary, 16, and is green on the Primary Ciliary Dyskinesia gene panel. In group discussion we decided to keep this gene red.Created: 10 May 2016, 8:29 a.m.
None found yetCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 16
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 16, 614017; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAL1
Source Expert Review Green was added to DNAL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAL1 was added gene: DNAL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAL1 was set to