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Intellectual disability syndromic and non-syndromic

Gene: PAK2

Green List (high evidence)

PAK2 (p21 (RAC1) activated kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000180370
EnsemblGeneIds (GRCh37): ENSG00000180370
OMIM: 605022, Gene2Phenotype
PAK2 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

total of 3 families including 2 siblings with intra-familial variability

Siblings' phenotypes:
Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy.

Other 2 pro bands:
GDD, delayed motor (but normal verbal) skills, hypotonia

Missense variants with in vitro functional demonstrating reduction in PAK2 auto phosphorylation
Sources: Literature
Created: 3 Jul 2024, 2:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Knobloch 2 syndrome MIM#618458

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Knobloch 2 syndrome MIM#618458
OMIM
605022
Clinvar variants
Variants in PAK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pak2 has been classified as Green List (High Evidence).

3 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pak2 has been classified as Green List (High Evidence).

3 Jul 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: PAK2 was added gene: PAK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK2 were set to 33693784; 38894571; 38712026 Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome MIM#618458 Review for gene: PAK2 was set to GREEN gene: PAK2 was marked as current diagnostic