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  3. DNAAF3
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Laterality disorders and isomerism

Gene: DNAAF3

Green List (high evidence)
DNAAF3 (dynein axonemal assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels

2 reviews

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

Green List (high evidence)

On CGGL Royal Brompton panel. Bi-allelic variants detected in PCD patients. Good literature evidence. ~half of cases with situs inversus
Created: 25 Nov 2019, 10:05 p.m. | Last Modified: 25 Nov 2019, 10:05 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 606763 Ciliary dyskinesia, primary, 2

Publications

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

Created: 25 Nov 2019, 10:05 p.m.
Last Modified: 25 Nov 2019, 10:05 p.m.
Panel version: 0.51

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: DNAAF3; 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.
Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
OMIM
614566
Clinvar variants
Variants in DNAAF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, 606763

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DNAAF3 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 DNAAF3. 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: DNAAF3 was added gene: DNAAF3 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF3 was set to