Long QT syndrome

Gene: AKAP9

Red List (low evidence)

AKAP9 (A-kinase anchoring protein 9)
EnsemblGeneIds (GRCh38): ENSG00000127914
EnsemblGeneIds (GRCh37): ENSG00000127914
OMIM: 604001, Gene2Phenotype
AKAP9 is in 5 panels

6 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

?Long QT syndrome-11 (OMIM 611820)
Created: 25 Mar 2019, 4:30 p.m.
No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Long QT syndrome reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 2.
Created: 19 Feb 2016, 11:06 a.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Based on both expert reviewers. No evidence in G2P and inconclusive in OMIM
Created: 29 Jan 2016, 12:41 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

I can only find one report
some variants on clinvar but inconclusive
Created: 2 Dec 2015, 4:07 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Long QT syndrome-11 (611820)
  • Long QT syndrome-11
OMIM
604001
Clinvar variants
Variants in AKAP9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to AKAP9. Mode of inheritance for gene AKAP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 25087618

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set publications

Damian Smedley (Genomics England Curator)

Publications for AKAP9 were set to 18093912

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP9 was added to Long QT syndromepanel. Sources: UKGTN

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

13 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory