Skeletal ciliopathies
Gene: PIK3C2A
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
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: LiteratureCreated: 21 Nov 2019, 11:24 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 Green
- Literature
- Phenotypes
-
- Oculoskeletodental syndrome 618440
- OMIM
- 603601
- Clinvar variants
- Variants in PIK3C2A
- Penetrance
- None
- Publications
- 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