Non-CF bronchiectasis
Gene: DNAL1EnsemblGeneIds (GRCh38): ENSG00000119661
EnsemblGeneIds (GRCh37): ENSG00000119661
OMIM: 610062, Gene2Phenotype
DNAL1 is in 10 panels
2 reviews
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Associated with Ciliary dyskinesia, primary, 16, and is green on the Primary Ciliary Dyskinesia gene panel. In group discussion we decided to keep this gene red.Created: 10 May 2016, 8:29 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Bronchiectasis
- Ciliary dyskinesia, primary, 16
- OMIM
- 610062
- Clinvar variants
- Variants in DNAL1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnal1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: dnal1 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 DNAL1 were set to Bronchiectasis; Ciliary dyskinesia, primary, 16
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 ()DNAL1 was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory