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  3. PIK3C2B
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Genetic Epilepsy

Gene: PIK3C2B

Amber List (moderate evidence)
PIK3C2B (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta)
EnsemblGeneIds (GRCh38): ENSG00000133056
EnsemblGeneIds (GRCh37): ENSG00000133056
OMIM: 602838, Gene2Phenotype
PIK3C2B is in 2 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

No OMIM gene disease association.

Gozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q). Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation.
Sources: Literature
Created: 14 Jul 2022, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
familial partial epilepsy - MONDO#0017704

Publications

Created: 14 Jul 2022, 1:52 a.m.

Panel version: 0.1631

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • familial partial epilepsy - MONDO#0017704
OMIM
602838
Clinvar variants
Variants in PIK3C2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2b has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2b has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PIK3C2B was added gene: PIK3C2B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3C2B were set to PMID: 35786744 Phenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704 Review for gene: PIK3C2B was set to AMBER