Non-CF bronchiectasis
Gene: DNAI1EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Associated with Ciliary dyskinesia, primary, and is green on the Primary Ciliary dyskinesia gene panel. Should remain red for this panel.Created: 10 May 2016, 8:24 a.m.
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
Important to exclude the known PCD variants in suspected idiopathic bronchiectasisCreated: 17 Oct 2015, 7:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCD phenotypes
Publications
- PMID: 18950741
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- Ciliary dyskinesia, primary, 1, with or without situs inversus
- OMIM
- 604366
- Clinvar variants
- Variants in DNAI1
- Penetrance
- Complete
- Publications
-
- PMID: 18950741
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Paediatric disorders - additional genes
- Ductal plate malformation
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnai1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnai1 has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DNAI1 were set to Bronchiectasis; Ciliary dyskinesia, primary, 1, with or without situs inversus
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DNAI1 were set to PMID: 18950741
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()DNAI1 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory