Bilateral congenital or childhood onset cataracts
Gene: PIK3C2A
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
Variants in this GENE are reported as part of current diagnostic practice
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: LiteratureCreated: 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
Tag for-review was removed from gene: PIK3C2A.
Source Expert Review Green was added to PIK3C2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PIK3C2A.
Gene: pik3c2a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome, 618440 to Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145
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