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Intellectual disability

Gene: AKAP17A

Red List (low evidence)

AKAP17A (A-kinase anchoring protein 17A)
EnsemblGeneIds (GRCh38): ENSG00000197976
EnsemblGeneIds (GRCh37): ENSG00000197976
OMIM: 312095, Gene2Phenotype
AKAP17A is in 1 panel

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Created: 19 Nov 2019, 6:10 p.m. | Last Modified: 19 Nov 2019, 6:10 p.m.
Panel Version: 2.1099

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene variant found in one ID proband. No association reported in OMIM nor G2P
Created: 31 Oct 2017, 9:57 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
OMIM
312095
Clinvar variants
Variants in AKAP17A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: AKAP17A was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

10 Dec 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: AKAP17A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: AKAP17A was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown

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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene AKAP17A was set to ['26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AKAP17A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP17A was added to Intellectual disabilitypanel. Sources: Expert Review Red