Laterality disorders and isomerism
Gene: DNAH5EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels
2 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton panel. Bi-allelic variants detected in mutiple PCD patients with and without situs inversus. Strong literature evidence.Created: 25 Nov 2019, 10:26 p.m. | Last Modified: 25 Nov 2019, 10:26 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
- OMIM
- 603335
- Clinvar variants
- Variants in DNAH5
- Penetrance
- None
- Publications
- 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 Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DNAH5 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
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 Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAH5 was set to