ClinGen Gene Validity Curations
Gene: AKAP9

AKAP9 (A-kinase anchoring protein 9)
EnsemblGeneIds (GRCh38): ENSG00000127914
EnsemblGeneIds (GRCh37): ENSG00000127914
OMIM: 604001, Gene2Phenotype
AKAP9 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Comment on list classification: Source: ClinGen Gene Validity Classification Summar. Determined as LIMITED by calculated classification (dated: 04/05/16) and LIMITED by Expert curation (12/15/16). Available here: https://search.clinicalgenome.org/kb/gene-validity/3208.
Created: 12 Apr 2017, 1:52 p.m.

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

Created: 23 Jun 2017, 11:51 a.m.

Panel version: 0.58

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

ClinGen
Expert Review Red
Other

Phenotypes

Long Qt Syndrome 11
OMIM:611820
Orphanet:101016

OMIM

604001

Clinvar variants

Variants in AKAP9

Penetrance

Complete

Publications

Panels with this gene