Cataracts

Gene: PIK3C2A

Red List (low 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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

PIK3C2A is associated with a relevant phenotype on OMIM but not on Gene2Phenotype. PMID: 31034465 describes 3 unrelated consanguineous families (Muslim-Arab Isreali, Tunisian and Syrian) with different homozygous variants in this gene. All affected members have similar features, which included "dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts". Therefore, this gene is appropriate for this panel and there is enough evidence for this gene to be promoted to Green status.
Sources: Literature
Created: 11 Nov 2019, 10:46 a.m. | Last Modified: 11 Nov 2019, 10:46 a.m.
Panel Version: 2.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome, 618440

Publications

Details

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

History Filter Activity

11 Nov 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PIK3C2A was added gene: PIK3C2A was added to Cataracts. 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 Review for gene: PIK3C2A was set to RED