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Molecular autopsy

Gene: AKAP9

Red List (low evidence)
AKAP9 (A-kinase anchoring protein 9)
EnsemblGeneIds (GRCh38): ENSG00000127914
EnsemblGeneIds (GRCh37): ENSG00000127914
OMIM: 604001, Gene2Phenotype
AKAP9 is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 39 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with LQT 1 and 11 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Long QT syndrome-11 (611820)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Red
Phenotypes
  • Long QT syndrome-11 (611820)
  • ?Long QT syndrome-11 611820
  • Long QT syndrome-11
OMIM
604001
Clinvar variants
Variants in AKAP9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to AKAP9.

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to AKAP9. Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9 Publications for gene AKAP9 were changed from 18093912 to 30420954; 19862833; 25087618; 16301704

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: AKAP9 was added gene: AKAP9 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKAP9 were set to 18093912 Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820; Long QT syndrome-11