Laterality disorders and isomerism
Gene: DNAAF2
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. The GMS commented this gene is on R189 respiratory ciliopathies panel (including PCD). Patients with variants in this gene appear most likely to present with a PCD phenotype.Created: 31 Jan 2023, 1:07 p.m. | Last Modified: 31 Jan 2023, 1:07 p.m.
Panel Version: 2.3
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
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
Is currently on CGGL Royal Brompton panel, but only single VUS detected to date. Limited literature evidenceCreated: 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
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 givenCreated: 5 Dec 2018, 12:52 p.m.
Tag Q2_21_rating was removed from gene: DNAAF2.
Tag Q2_21_rating tag was added to gene: DNAAF2.
Publications for gene: DNAAF2 were set to 19052621; 31107948
Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518
Publications for gene: DNAAF2 were set to 19052621
Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, 612518
Mode of inheritance for gene: DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF2 were set to
Source Expert Review Green was added to DNAAF2. Rating Changed from Red List (low evidence) to Green List (high evidence)
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