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  3. DNAAF2
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Respiratory ciliopathies including non-CF bronchiectasis

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

5 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 10, 612518

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:38 a.m.
Created: 10 May 2016, 8:38 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.2

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Red List (low evidence)

should be considered if PCD suspected
Created: 31 Mar 2016, 6:32 p.m.

Mode of inheritance
Unknown

Created: 31 Mar 2016, 6:32 p.m.

Panel version: Imported from Non-CF bronchiectasis panel version 0.0

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

None found yet
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 10

Publications

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

Created: 8 Dec 2015, 4:25 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 10, 612518
OMIM
612517
Clinvar variants
Variants in DNAAF2
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 10, 612518 for gene: DNAAF2

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 Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAAF2 was set to