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  2. Ciliary Dyskinesia
  3. AKNA
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Ciliary Dyskinesia

Gene: AKNA

Red List (low evidence)
AKNA (AT-hook transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000106948
EnsemblGeneIds (GRCh37): ENSG00000106948
OMIM: 605729, Gene2Phenotype
AKNA is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia, MONDO:0016575, AKNA-related

Publications

Created: 5 Oct 2020, 9:52 a.m.
Last Modified: 5 Oct 2020, 9:52 a.m.
Panel version: 1.34

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

https://link.springer.com/article/10.1007/s00439-020-02170-2
Two siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) was normal.

PMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss
Sources: Literature
Created: 5 Oct 2020, 4:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

Created: 5 Oct 2020, 4:51 a.m.

Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
OMIM
605729
Clinvar variants
Variants in AKNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

Elena Savva (Victorian Clinical Genetics Services)

gene: AKNA was added gene: AKNA was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKNA were set to PMID: 21606955 Phenotypes for gene: AKNA were set to Primary ciliary dyskinesia Review for gene: AKNA was set to RED