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  3. DAW1
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Laterality disorders and isomerism

Gene: DAW1

Green List (high evidence)
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 updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 9:49 p.m. | Last Modified: 5 Dec 2024, 9:49 p.m.
Panel Version: 3.20
The OMIM entry for this gene is OMIM:620279, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Created: 17 Oct 2023, 9:42 a.m. | Last Modified: 17 Oct 2023, 9:42 a.m.
Panel Version: 3.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 17 Oct 2023, 9:42 a.m.
Last Modified: 17 Oct 2023, 9:42 a.m.
Panel version: 3.20

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, according to the recommendations from Helen Brittain (Genomics England, Clinical Fellow).
Created: 25 Oct 2022, 2:05 p.m. | Last Modified: 25 Oct 2022, 2:25 p.m.
Panel Version: 1.53
DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Supportive functional studies and a mouse model were also reported in PMID: 36074124.
Sources: Literature
Created: 25 Oct 2022, 12:54 p.m. | Last Modified: 25 Oct 2022, 12:59 p.m.
Panel Version: 1.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
motile ciliopathy laterality disorder

Publications

Created: 25 Oct 2022, 12:54 p.m.
Last Modified: 25 Oct 2022, 2:25 p.m.
Panel version: 1.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 52, OMIM:620570
Tags
gene-checked
Clinvar variants
Variants in DAW1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: DAW1.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DAW1. Source Expert Review Green was added to DAW1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Oct 2024, Gel status: 2

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

2 Jul 2024, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_22_MOI was removed from gene: DAW1.

17 Oct 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: DAW1.

25 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: daw1 has been classified as Amber List (Moderate Evidence).

25 Oct 2022, Gel status: 1

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 Laterality disorders and isomerism. 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