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Fetal anomalies

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Not green on any panel; red on retinal disorders. Missense variants reported in several unrelated cases with consistent and specific postnatal phenotypes and some prenatally detectable features including pulmonary effusion and congenital heart defects: PMID: 33693784 - c.1303G>A, p.(Glu435Lys) in two affected siblings (parental germline mosaicism) with retinal detachment, interstitial parenchymal pulmonary changes, cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. ; PMID: 40262506 - c.1115A>T, p.(Asp372Val) in a neonate with bilateral pleural effusion, suggestive of chylothorax on prenatal imaging, respiratory distress, purpura fulminans and retinal detachment after birth. ; PMID: 39994693 - De novo c.836A>C, p.(Gln279Pro) in a fetus with severe bilateral pleural effusion. PMID: 40247748 - De novo c.1049G>A (p.Arg350Lys) in a proband with epilepsy and developmental delay. ; PMID: 39876536 - De novo c.1273G>A, p.(Asp425Asn) in an individual with global developmental delay, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, failure to thrive, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial dysmorphism. ; PMID: 37808560 - c.1115A>T, p.(Asp732Val) in a neonate with purpura fulminans, congenital chylothorax, retinal detachments. ; PMID: 38894571 - De novo c.1217C>T p.(Thr406Met) in a neonate with multiple congenital heart defects, microcephaly and retinopathy. ; PMID: 36504449 - NB Possible multiple mechanisms of pathogenicity - de novo LoF variants and deletions associated with autism spectrum disorder (PMID: 30134165). Rare missense and splice region variants identified in fetuses with neural tube defects: c.451C>T, p.(Pro151Ser); c.758A>C, p.(Glu253Ala);c.289?3T>A.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Knobloch syndrome 2

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

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

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: PAK2. Tag Q3_25_NHS_review was removed from gene: PAK2.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PAK2. Source NHS GMS was added to PAK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: PAK2. Tag Q3_25_NHS_review tag was added to gene: PAK2.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PAK2 was added gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536 Phenotypes for gene: PAK2 were set to Knobloch syndrome 2