Fetal anomalies
Gene: DAW1

DAW1 (dynein assembly factor with WD repeats 1)
EnsemblGeneIds (GRCh38): ENSG00000123977
EnsemblGeneIds (GRCh37): ENSG00000123977
DAW1 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.

Panel Version: 5.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.78

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Green List (high evidence)

Recent AR ciliopathy gene. Green on PCD panel. PMID: 36074124: 6 cases from 3 families with biallelic (compound het and homozygous) missense or null variants. Variable ciliopathy features (situs inversus, complex congenital heart disease, mild otosinopulmonary features) which can present prenatally. Functional studies demonstrated variable partial defect in outer dyenin arm assembly to ciliary axenemes. Knockout mouse model has PCD phenotype (laterality defects, CHD, mild respiratory phenotype). 5/6 reported cases had laterality defects and half had CHD. 1 case presented with respiratory defect only, with abnormal ciliary beating on microscopy.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.

Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 52, MIM#620570

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ciliary dyskinesia, primary, 52, OMIM:620570

Tags

gene-checked

Clinvar variants

Variants in DAW1

Penetrance

None

Publications

Panels with this gene