Long QT syndrome
Gene: AKAP9
?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
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
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.
Comment on list classification: Based on both expert reviewers. No evidence in G2P and inconclusive in OMIMCreated: 29 Jan 2016, 12:41 p.m.
I can only find one report
some variants on clinvar but inconclusiveCreated: 2 Dec 2015, 4:07 p.m.
Publications
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
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
This gene has been classified as Red List (Low Evidence).
Publications for AKAP9 were set to 18093912
This gene has been classified as Red List (Low Evidence).
AKAP9 was added to Long QT syndromepanel. Sources: UKGTN
Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Model of inheritance for gene AKAP9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
AKAP9 was added to Long QT syndromepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory