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Sudden death in young people

Gene: AKAP10

No list
AKAP10 (A-kinase anchoring protein 10)
EnsemblGeneIds (GRCh38): ENSG00000108599
EnsemblGeneIds (GRCh37): ENSG00000108599
OMIM: 604694, Gene2Phenotype
AKAP10 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating from red to grey: A 2073A-G SNP in exon 14 of the AKAP10 gene results in an ile646-to-val (I646V) substitution. PMID:17485678 report that this marker predicts an increased risk of sudden cardiac death. It is a common variant however, and only one variant is reported in OMIM, with no known association with sudden death in the young.
Created: 6 Dec 2016, 4:31 p.m.
Created: 6 Dec 2016, 4:31 p.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • {Cardiac conduction defect, susceptibility to}, 115080
  • increased risk of sudden cardiac death
Tags
curated_removed
OMIM
604694
Clinvar variants
Variants in AKAP10
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AKAP10.

19 Dec 2016, Gel status: 0

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

6 Dec 2016, Gel status: 0

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been removed from the panel.

6 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AKAP10 was created by rfoulger

6 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

AKAP10 was added to Sudden death in young peoplepanel. Sources: Other