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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. AK7
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: AK7

Red List (low evidence)
AK7 (adenylate kinase 7)
EnsemblGeneIds (GRCh38): ENSG00000140057
EnsemblGeneIds (GRCh37): ENSG00000140057
OMIM: 615364, Gene2Phenotype
AK7 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive AK7 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004087.
Sources: ClinGen
Created: 14 Jul 2025, 3:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spermatogenic failure 27, OMIM:617965; primary ciliary dyskinesia, MONDO:0016575

Created: 14 Jul 2025, 3:47 p.m.

Panel version: 4.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
Phenotypes
  • ?Spermatogenic failure 27, OMIM:617965
  • primary ciliary dyskinesia, MONDO:0016575
Tags
disputed
OMIM
615364
Clinvar variants
Variants in AK7
Penetrance
None
Panels with this gene

History Filter Activity

17 Jul 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag disputed tag was added to gene: AK7.

14 Jul 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AK7 was added gene: AK7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: AK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK7 were set to ?Spermatogenic failure 27, OMIM:617965; primary ciliary dyskinesia, MONDO:0016575 Review for gene: AK7 was set to RED