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Fetal anomalies

Gene: DNAAF3

Green List (high evidence)

DNAAF3 (dynein axonemal assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, heterotaxy variable.
Created: 18 Oct 2020, 8:07 a.m. | Last Modified: 18 Oct 2020, 8:07 a.m.
Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 2, MIM# 606763

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 2, MIM# 606763
OMIM
614566
Clinvar variants
Variants in DNAAF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnaaf3 has been classified as Green List (High Evidence).

1 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 to Ciliary dyskinesia, primary, 2, MIM# 606763

1 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAAF3 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAAF3 was added gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763