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Newborns main panel

Gene: DNAAF5

Green List (high evidence)
DNAAF5 (dynein axonemal assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000164818
EnsemblGeneIds (GRCh37): ENSG00000164818
OMIM: 614864, Gene2Phenotype
DNAAF5 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 23040496 - 9 Amish patient all with same variant. PMID: 29363216 - 1 family
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 18
OMIM
614864
Clinvar variants
Variants in DNAAF5
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 18 for gene: DNAAF5

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DNAAF5. Added phenotypes Ciliary dyskinesia, primary, 18 for gene: DNAAF5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: DNAAF5 were changed from Ciliary dyskinesia, primary, 18; 6 to Ciliary dyskinesia, primary, 18

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DNAAF5. Added phenotypes Ciliary dyskinesia, primary, 18 for gene: DNAAF5 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: DNAAF5 was added gene: DNAAF5 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to 6