Intellectual_disability
Gene: AKAP17A

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

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Details

Mode of Inheritance

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

Sources

Candidate gene (Grozeva et al, 2015)

Phenotypes

Intellectual disability

Tags

Pseudoautosomal region 1

OMIM

312095

Clinvar variants

Variants in AKAP17A

Penetrance

Complete

Publications

PMID: 26350204

Panels with this gene

Intellectual disability

History Filter Activity

4 Nov 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: AKAP17A.

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AKAP17A was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)