Bilateral congenital or childhood onset cataracts

Gene: PIK3C2A

Green List (high evidence)

Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype.

Created: 8 Jul 2020, 8:05 a.m. | Last Modified: 8 Jul 2020, 8:05 a.m.

Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome, MIM# 618440

Publications

• 31034465

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

Comment on list classification: Promoted from Red to Amber. This gene should be Green at the next review.

Created: 11 Dec 2020, 2:37 p.m. | Last Modified: 11 Dec 2020, 2:37 p.m.

Panel Version: 2.27

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

• 31034465