Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH5
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: DNAH5; 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, 3, with or without situs inversus, 608644
Variants in this GENE are reported as part of current diagnostic practice
Sufficient cases for causation for PCD +/- laterality. Current evidence for structural cardiac involvement is from a mouse model (see listed PMID)Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus
Publications
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:47 a.m.
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:32 p.m.
Mode of inheritance
Unknown
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 3, with or without situs inversus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Source Expert Review Green was added to DNAH5. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAH5 was added gene: DNAH5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH5 was set to