Non-CF bronchiectasis
Gene: DNAH5Comment on list classification: Promoted from Red to Green based on expert review from Zerin Hyder (Genomics England).Created: 5 Oct 2020, 2:16 p.m. | Last Modified: 5 Oct 2020, 2:16 p.m.
Panel Version: 1.26
Sufficient cases for causation for PCD +/- laterality. Current evidence for structural cardiac involvement is from a mouse model (see listed PMID).Created: 10 Jul 2020, 8:36 a.m. | Last Modified: 10 Jul 2020, 8:36 a.m.
Panel Version: 1.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus
Publications
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:32 p.m.
Mode of inheritance
Unknown
Gene: dnah5 has been classified as Green List (High Evidence).
Publications for gene: DNAH5 were set to
Phenotypes for gene: DNAH5 were changed from Bronchiectasis to Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus
Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: dnah5 has been classified as Red List (Low Evidence).
Gene: dnah5 has been classified as Green List (High Evidence).
DNAH5 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory