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  3. PAK1
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Genetic Epilepsy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated individuals with de novo variants int his gene reported.
Sources: Expert list
Created: 25 Jan 2020, 1:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Created: 25 Jan 2020, 1:02 a.m.

Panel version: 0.412

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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

25 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAK1 was added gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 30290153; 31504246 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 gene: PAK1 was marked as current diagnostic