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This Panel is marked as Internal

Intellectual_disability
Gene: PAK3

PAK3 (p21 (RAC1) activated kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000077264
EnsemblGeneIds (GRCh37): ENSG00000077264
OMIM: 300142, Gene2Phenotype
PAK3 is in 3 panels

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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

Radboud University Medical Center, Nijmegen
Known gene (Grozeva et al, 2015)
Illumina TruGenome Clinical Sequencing Services
Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory

Phenotypes

Mental retardation, X-linked 30/47, 300558
Mental Retardation, X-linked
Intellectual disability

OMIM

Clinvar variants

Variants in PAK3

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAK3 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAK3 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAK3 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PAK3 was added to Intellectual_disabilitypanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAK3 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen