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  2. Ciliary Dyskinesia
  3. DAW1
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Ciliary Dyskinesia

Gene: DAW1

Green List (high evidence)
DAW1 (dynein assembly factor with WD repeats 1)
EnsemblGeneIds (GRCh38): ENSG00000123977
EnsemblGeneIds (GRCh37): ENSG00000123977
DAW1 is in 3 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Created: 6 Oct 2022, 3:17 a.m. | Last Modified: 6 Oct 2022, 3:18 a.m.
Panel Version: 1.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677

Publications

Created: 6 Oct 2022, 3:17 a.m.
Last Modified: 6 Oct 2022, 3:18 a.m.
Panel version: 1.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570
Clinvar variants
Variants in DAW1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: daw1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: daw1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

gene: DAW1 was added gene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAW1 were set to 36074124 Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 Review for gene: DAW1 was set to GREEN