AKAP9

A-kinase anchoring protein 9
OMIM: 604001, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red AKAP9 in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Long Qt Syndrome 11
  • OMIM:611820
  • Orphanet:101016
No list AKAP9 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review Unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
Tags
  • curated_removed
Red AKAP9 in Short QT syndrome


Version 3.10
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review 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
    Red AKAP9 in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • North West GLH
    • 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
    Red AKAP9 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Red
    • SFARI