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Newborns main panel

Gene: DNAAF2

Green List (high evidence)
DNAAF2 (dynein axonemal assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000165506
EnsemblGeneIds (GRCh37): ENSG00000165506
OMIM: 612517, Gene2Phenotype
DNAAF2 is in 10 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: 19052621 - 2 families. PMID: 32638265 - 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

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 10 for gene: DNAAF2

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 DNAAF2. Added phenotypes Ciliary dyskinesia, primary, 10 for gene: DNAAF2 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: DNAAF2 were changed from Ciliary dyskinesia, primary, 10; 4 to Ciliary dyskinesia, primary, 10

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 DNAAF2. Added phenotypes Ciliary dyskinesia, primary, 10 for gene: DNAAF2 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: DNAAF2 was added gene: DNAAF2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to 4