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Fetal anomalies

Gene: DNAAF4

Green List (high evidence)

DNAAF4 (dynein axonemal assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000256061
EnsemblGeneIds (GRCh37): ENSG00000256061
OMIM: 608706, Gene2Phenotype
DNAAF4 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families and animal model. Note there is a common 3.5kb affecting exon 7, possible founder effect.
Created: 11 Oct 2020, 9:29 p.m. | Last Modified: 11 Oct 2020, 9:29 p.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 25, MIM# 615482

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 25, MIM# 615482
OMIM
608706
Clinvar variants
Variants in DNAAF4
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: dnaaf4 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: DNAAF4 were changed from PRIMARY CILIARY DYSPLASIA to Ciliary dyskinesia, primary, 25, MIM# 615482

1 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAAF4 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: DNAAF4 was added gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA