Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Callosome

Gene: PAK1

Green List (high evidence)

PAK1 (p21 (RAC1) activated kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000149269
EnsemblGeneIds (GRCh37): ENSG00000149269
OMIM: 602590, Gene2Phenotype
PAK1 is in 5 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder. All missense variants
Sources: Literature
Created: 2 Nov 2023, 1:42 a.m. | Last Modified: 2 Nov 2023, 1:46 a.m.
Panel Version: 0.506

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
OMIM
602590
Clinvar variants
Variants in PAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: pak1 has been classified as Green List (High Evidence).

2 Nov 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: pak1 has been removed from the panel.

2 Nov 2023, Gel status: 0

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

Lauren Rogers (Victorian Clinical Genetics Services)

gene: PAK1 was added gene: PAK1 was added to Callosome. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 37820543 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Review for gene: PAK1 was set to GREEN