Non-CF bronchiectasis
Gene: DAW1EnsemblGeneIds (GRCh38): ENSG00000123977
EnsemblGeneIds (GRCh37): ENSG00000123977
DAW1 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Helen Brittain (Genomics England, Clinical Fellow) agreed that DAW1 should be green on this panel.
Sources: LiteratureCreated: 25 Oct 2022, 12:54 p.m. | Last Modified: 25 Oct 2022, 2:26 p.m.
Panel Version: 1.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
motile ciliopathy laterality disorder
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ciliary dyskinesia, primary, 52, OMIM:620570
- Tags
- Clinvar variants
- Variants in DAW1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DAW1 were changed from motile ciliopathy laterality disorder to Ciliary dyskinesia, primary, 52, OMIM:620570
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: DAW1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: daw1 has been classified as Green List (High Evidence).
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q4_22_MOI was removed from gene: DAW1. Tag Q4_22_promote_green was removed from gene: DAW1.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: DAW1 was added gene: DAW1 was added to Non-CF bronchiectasis. Sources: Literature Q4_22_MOI, Q4_22_promote_green tags were added to gene: DAW1. Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAW1 were set to 36074124; 28991257 Phenotypes for gene: DAW1 were set to motile ciliopathy laterality disorder Review for gene: DAW1 was set to GREEN