Non-CF bronchiectasis
Gene: DNAH5EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Zerin Hyder (Genomics England)
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
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
should be considered if PCD suspectedCreated: 31 Mar 2016, 6:32 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- Primary Ciliary Dyskinesia
- Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
- situs inversus
- OMIM
- 603335
- Clinvar variants
- Variants in DNAH5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric disorders - additional genes
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Familial pulmonary fibrosis
- Skeletal dysplasia
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: dnah5 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DNAH5 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnah5 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnah5 has been classified as Green List (High Evidence).
Added New Source
GEL ()DNAH5 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory