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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. AKNA
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: AKNA

Red List (low evidence)
AKNA (AT-hook transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000106948
EnsemblGeneIds (GRCh37): ENSG00000106948
OMIM: 605729, Gene2Phenotype
AKNA is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given a Red rating.
Created: 2 Dec 2020, 11:20 a.m. | Last Modified: 2 Dec 2020, 11:20 a.m.
Panel Version: 1.17
Created: 2 Dec 2020, 11:20 a.m.
Last Modified: 2 Dec 2020, 11:20 a.m.
Panel version: 1.17

Zornitza Stark (Australian Genomics)

Red List (low evidence)

PMID 32367404 :Two siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) were asymptomatic.

PMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss
Sources: Literature
Created: 5 Oct 2020, 9:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

Created: 5 Oct 2020, 9:53 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
OMIM
605729
Clinvar variants
Variants in AKNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: akna has been classified as Red List (Low Evidence).

5 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: AKNA was added gene: AKNA was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKNA were set to 32367404; 21606955 Phenotypes for gene: AKNA were set to Primary ciliary dyskinesia Review for gene: AKNA was set to RED