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  3. PIK3C2A
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Ciliopathies

Gene: PIK3C2A

Green List (high evidence)
PIK3C2A (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000011405
EnsemblGeneIds (GRCh37): ENSG00000011405
OMIM: 603601, Gene2Phenotype
PIK3C2A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ciliary dysfunction associated with prominent skeletal abnormalities in three unrelated families.
Sources: Expert list
Created: 24 May 2020, 11:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome, MIM# 618440

Publications

Created: 24 May 2020, 11:26 a.m.

Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.42

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Function: catalyzes the phosphorylation of the lipids that are essential for a variety of cellular processes including cilia formation and vesicle trafficking.

PMID: 31034465 - 3 unrelated families (5 patients) with cataracts, skeletal abnormalities, hearing loss, nephrocalcinosis, visual defects etc. Variants included a nonsense, canonical splice causing a large inframe deletion-insertion and intragenic CNV.
MRIs revealed multiple forntal and periventricular lacunar infarcts, lesions of white matter. No mention of MTS or cerebellar atrophy.
Functional assays on patents fibroblasts showed reduced accumulation of PI(3)P (a downstream target of this gene) at the base of cilia and reduced cilia length.
Sources: Expert list
Created: 19 May 2020, 10:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome 618440

Publications

Created: 19 May 2020, 10:45 p.m.

Panel version: 0.161

Details

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

History Filter Activity

20 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2a has been classified as Green List (High Evidence).

20 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2a has been classified as Green List (High Evidence).

19 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: PIK3C2A was added gene: PIK3C2A was added to Ciliopathies. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to PMID: 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440 Review for gene: PIK3C2A was set to GREEN