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Mendeliome

Gene: AKAP10

Red List (low evidence)

AKAP10 (A-kinase anchoring protein 10)
EnsemblGeneIds (GRCh38): ENSG00000108599
EnsemblGeneIds (GRCh37): ENSG00000108599
OMIM: 604694, Gene2Phenotype
AKAP10 is in 1 panel

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

No evidence that rare variants cause disease.

A common polymorphism, Ile646Val (>37% MAF in gnomAD) has been associated with an increased risk of sudden cardiac death (PMID: 12646697, 17485678).
Created: 1 Feb 2022, 7:19 a.m. | Last Modified: 1 Feb 2022, 7:19 a.m.
Panel Version: 0.10823

Mode of inheritance
Unknown

Phenotypes
{Cardiac conduction defect, susceptibility to} MIM#115080; sudden cardiac arrest MONDO:0007264

Publications

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Cardiac conduction defect, susceptibility to} MIM#115080
  • sudden cardiac arrest MONDO:0007264
OMIM
604694
Clinvar variants
Variants in AKAP10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akap10 has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKAP10 were changed from to {Cardiac conduction defect, susceptibility to} MIM#115080; sudden cardiac arrest MONDO:0007264

2 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKAP10 were set to

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akap10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKAP10 was added gene: AKAP10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKAP10 was set to Unknown