Laterality disorders and isomerism

Gene: DNAAF2

Amber List (moderate evidence)

DNAAF2 (dynein axonemal assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000165506
EnsemblGeneIds (GRCh37): ENSG00000165506
OMIM: 612517, Gene2Phenotype
DNAAF2 is in 10 panels

4 reviews

Ivone Leong (Genomics England Curator)

This gene is associated with a relevant disease in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Created: 14 Apr 2021, 2:43 p.m. | Last Modified: 14 Apr 2021, 2:43 p.m.
Panel Version: 1.42
Comment on publications: PMID: 32638265 is an additional case in a non-consanguineous Han Chinese family. Proband has compound heterozygous variants in this gene and exhibited typical PCD-related clinical symptoms, including chronic otitis media, and recurrent pneumonia since birth. The proband also had chronic ethmoid and maxillary sinusitis, ring-shaped or ductal opacities throughout both lungs, bilateral lung bronchiectasis, and situs inversus totalis in the heart, liver, and colon.
Created: 14 Apr 2021, 2:42 p.m. | Last Modified: 14 Apr 2021, 2:42 p.m.
Panel Version: 1.42

Zornitza Stark (Australian Genomics)

Green List (high evidence)

I agree this is a bit borderline. In the initial publication, 2/3 individuals had laterality defects. However, note recent publication of a mouse model to add to the evidence for gene-disease association (in addition to the initial zebrafish model).
Created: 1 Jun 2020, 8:33 a.m. | Last Modified: 1 Jun 2020, 8:33 a.m.
Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 10 612518

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

Is currently on CGGL Royal Brompton panel, but only single VUS detected to date. Limited literature evidence
Created: 25 Nov 2019, 10:01 p.m. | Last Modified: 25 Nov 2019, 10:01 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 612518 Ciliary dyskinesia, primary, 10

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.
Created: 27 Nov 2019, 1:10 p.m. | Last Modified: 27 Nov 2019, 1:10 p.m.
Panel Version: 0.133
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAAF2; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 10, OMIM:612518
Tags
Q2_21_rating
OMIM
612517
Clinvar variants
Variants in DNAAF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: DNAAF2.

14 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DNAAF2 were set to 19052621; 31107948

13 Apr 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518

13 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DNAAF2 were set to 19052621

27 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, 612518

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DNAAF2 were set to

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DNAAF2. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DNAAF2 was added gene: DNAAF2 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF2 was set to