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Intellectual disability

Gene: AKAP6

Red List (low evidence)

AKAP6 (A-kinase anchoring protein 6)
EnsemblGeneIds (GRCh38): ENSG00000151320
EnsemblGeneIds (GRCh37): ENSG00000151320
OMIM: 604691, Gene2Phenotype
AKAP6 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

added de novo tag
Created: 5 Mar 2018, 2:27 p.m.
Candidate Intellectual Disability gene from a study by Monies et al., (2017) PMID: 28600779. They reported that AKAP6 was mutated in a patient with intellectual disability (16W-0212) and via internal matchmaking, they were able to identify another de novo truncating variant in the same gene in a patient with intellectual disability: NM_004274.4:c.1572_1573del:p.Lys525Glufs30*.
Created: 5 Mar 2018, 2:06 p.m.

Mode of inheritance
Unknown

Publications

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Intellectual Disability
Tags
de novo
OMIM
604691
Clinvar variants
Variants in AKAP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AKAP6.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Mar 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for AKAP6 were set to Intellectual Disability

5 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

AKAP6 was added to Intellectual disability panel. Sources: Literature

5 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

AKAP6 was created by Louise Daugherty