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Short 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 3 panels

2 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 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: 1.4

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel
Created: 15 Nov 2018, 12:10 p.m.

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

Publications

Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome-11 (611820)
  • ?Long QT syndrome-11 611820
OMIM
604001
Clinvar variants
Variants in AKAP9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with Short QT p

15 Nov 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: AKAP9 was added gene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820