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Intellectual disability

Gene: PIK3C2A

Amber List (moderate evidence)

PIK3C2A (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000011405
EnsemblGeneIds (GRCh37): ENSG00000011405
OMIM: 603601, Gene2Phenotype
PIK3C2A is in 5 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families, ID is part of the phenotype of this syndrome.
Created: 12 Feb 2020, 9:26 a.m. | Last Modified: 12 Feb 2020, 9:26 a.m.
Panel Version: 3.0

Phenotypes
Oculoskeletodental syndrome, 618440

Publications

Catherine Snow (Genomics England)

I don't know

PIK3C2A is on a number of panels including a Green rating on Skeletal dysplasia (Version 1.244) clinical support advised that as PIK3C2A phenotype includes DD, gene should be rated as Amber on this panel.
Sources: Expert Review
Created: 27 Nov 2019, 5:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome, 618440

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Oculoskeletodental syndrome, 618440
OMIM
603601
Clinvar variants
Variants in PIK3C2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: pik3c2a has been classified as Amber List (Moderate Evidence).

27 Nov 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: PIK3C2A was added gene: PIK3C2A was added to Intellectual disability. Sources: Expert Review Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440 Review for gene: PIK3C2A was set to AMBER