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Fetal anomalies

Gene: PI4K2A

Green List (high evidence)
PI4K2A (phosphatidylinositol 4-kinase type 2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000155252
EnsemblGeneIds (GRCh37): ENSG00000155252
OMIM: 609763, Gene2Phenotype
PI4K2A is in 3 panels

2 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 BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

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

Green List (high evidence)

3 unrelated cases with homozygous nonsense variants in PI4K2A (PMID 30564627, 35880319), Further report of a homozygous missense variant (32418222). Phenotype includes neurodevelopmental disorders, brain malformations, leukodystrophy, primary immunodeficiency, and inflammatory bowel disease. Hypoplastic corpus callosum detected in utero in one case (35880319 family 2). Sufficient evidence of disease association but limited information on prenatal phenotype.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM#620732

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
OMIM
609763
Clinvar variants
Variants in PI4K2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: PI4K2A. Tag Q1_25_ promote_green was removed from gene: PI4K2A.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PI4K2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: PI4K2A. Tag Q1_25_ promote_green tag was added to gene: PI4K2A.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PI4K2A was added gene: PI4K2A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4K2A were set to 35880319; 32418222; 30564627 Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732