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.
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
Oculoskeletodental syndrome, 618440
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