Familial pulmonary fibrosis
Gene: DNAI1EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
2 reviews
Philip Molyneaux (Imperial College)
PCD not fibrosis
Created: 26 Apr 2017, 9:52 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Primary ciliary dyskinesia (bronchiectasis) rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:46 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 604366
- Clinvar variants
- Variants in DNAI1
- Penetrance
- Complete
- 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
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DNAI1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)DNAI1 was created by ellenmcdonagh