Incidentalome
Gene: AKAP9

AKAP9 (A-kinase anchoring protein 9)
EnsemblGeneIds (GRCh38): ENSG00000127914
EnsemblGeneIds (GRCh37): ENSG00000127914
OMIM: 604001, Gene2Phenotype
AKAP9 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Disputed by ClinGen.
Created: 1 Jun 2020, 4:37 a.m. | Last Modified: 1 Jun 2020, 4:37 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 11, MIM# 611820

Publications

31983240

Created: 1 Jun 2020, 4:37 a.m.
Last Modified: 1 Jun 2020, 4:37 a.m.
Panel version: 0.27

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

disputed by ClinGen (15/12/2016) and as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240
Created: 31 May 2020, 1:08 p.m. | Last Modified: 31 May 2020, 1:08 p.m.

Panel Version: 0.7

Phenotypes
long QT syndrome

Publications

PMID: 31983240

Created: 31 May 2020, 1:08 p.m.
Last Modified: 31 May 2020, 1:08 p.m.
Panel version: Imported from Long QT Syndrome panel version 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Long QT syndrome 11, MIM# 611820

Tags

disputed

OMIM

604001

Clinvar variants

Variants in AKAP9

Penetrance

None

Publications

31983240

Panels with this gene