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Intellectual disability syndromic and non-syndromic

Gene: PAK3

Green List (high evidence)

PAK3 (p21 (RAC1) activated kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000077264
EnsemblGeneIds (GRCh37): ENSG00000077264
OMIM: 300142, Gene2Phenotype
PAK3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 20 families reported.

PMID: 31943058 (2020) - Animal mouse model with a hemizygous variant (p.R67C) in the Pak3 gene, recapitulated some features of the human ID phenotype. Mutant male mice exhibited impairments in long-term spatial memory and pattern separation function, suggestive of altered hippocampal neurogenesis. Analysing critical periods of hippocampal neurogenesis revealed dysfunctional maturation and learning-associated recruitment, as well as accelerated death of selective populations of adult-born hippocampal neurons - offering a possible mechanism to the observed cognitive impairments.
Created: 3 Sep 2020, 10:10 p.m. | Last Modified: 3 Sep 2020, 10:10 p.m.
Panel Version: 0.2946

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 30/47, MIM# 300558
  • Intellectual disability
OMIM
300142
Clinvar variants
Variants in PAK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pak3 has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability

3 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAK3 were set to

3 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAK3 was added gene: PAK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAK3 was set to Unknown