Skeletal 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 6 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating green as 3 cases have been reported with skeletal involvement.
Created: 21 Nov 2019, 11:26 p.m. | Last Modified: 21 Nov 2019, 11:26 p.m.
Panel Version: 0.21
Associated with Oculoskeletodental syndrome #618440 (AR) in OMIM. This is based on evidence from PMID: 31034465 - Tiosano et al 2019 - report 5 individuals from 3 unrelated consanguineous families with a similar set of clinical features including dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts. The skeletal findings included "scoliosis, delayed bone age, diminished ossification of femoral heads, cervical lordosis, shortened fifth digits with mild metaphyseal dysplasia and clinodactyly". Homozygous loss-of-function mutations in PIK3C2A were identified in each family.

The authors found that PIK3C2A is critical for the formation of cilia and therefore is appropriate for inclusion on the skeletal ciliopathy panel.
Sources: Literature
Created: 21 Nov 2019, 11:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Oculoskeletodental syndrome 618440



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • Oculoskeletodental syndrome 618440
Clinvar variants
Variants in PIK3C2A
Panels with this gene

History Filter Activity

21 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

21 Nov 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PIK3C2A was added gene: PIK3C2A was added to Skeletal ciliopathies. Sources: Literature 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