Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH5EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels
6 reviews
Louise Daugherty (Genomics England Curator)
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.
Ian Berry (Leeds Genetics Laboratory)
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
Helen Brittain (Genomics England Curator)
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
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:47 a.m.
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
Hannah Mitchison (UCL and GOSH)
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
- PMID:11788826
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Primary Ciliary Dyskinesia
- Bronchiectasis
- Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
- OMIM
- 603335
- Clinvar variants
- Variants in DNAH5
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Paediatric disorders - additional genes
- Ductal plate malformation
- DDG2P
- Familial pulmonary fibrosis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to DNAH5. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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