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  3. PAK1
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Fetal anomalies

Gene: PAK1

Amber List (moderate evidence)
PAK1 (p21 (RAC1) activated kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000149269
EnsemblGeneIds (GRCh37): ENSG00000149269
OMIM: 602590, Gene2Phenotype
PAK1 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on epilepsy, ID panel, aus panelapp also on macrocephaly panel. Duggoff et al paper in review seen in a fetus with ACC and other CNS anomalies (can get details if required) (MRI), PMID: 30290153 macrocephaly not present at birth. MRI 1/2 hyperintesity of white matter. PMID: 31504246 4/4 postnatal macrocephaly, 4/4 MRI findings 2 thin CC, 2 thick CC, 2/4 ventriculomegaly, 2 white matter anomalies. 2/4 partial toe syndactyly. PMID: 37820543 1/3 Thick CC megalencephaly, 1 White matter signal anomalies, 1 delatyed myelinisationPMID: 41124873 MRI normal. PMID 36905087 singel case obstructive hydrocephalus, NMRI cerebellar dysgenesis, white matter signal intensity
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

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

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: PAK1 was added gene: PAK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 41124873; 36905087; 37820543; 31504246 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay, OMIM:618158