Skeletal dysplasiaGene: PIK3C2A
Comment on list classification: After further assessment of the phenotype in the supplementary data for PMID: 31034465 (scoliosis, short stature etc) it was decided to promote this gene to green
Created: 15 Nov 2019, 2:53 p.m. | Last Modified: 15 Nov 2019, 2:53 p.m.
Panel Version: 1.216
Comment on list classification: After consultation with the Genomics England clinical team, decided to rate this gene Amber for now. Not clear how relevant the skeletal phenotypes are to this panel.
Created: 14 Nov 2019, 11:57 p.m. | Last Modified: 14 Nov 2019, 11:57 p.m.
Panel Version: 1.207
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.
Created: 14 Nov 2019, 11:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: pik3c2a has been classified as Green List (High Evidence).
Phenotypes for gene: PIK3C2A were changed from to Oculoskeletodental syndrome 618440
Gene: pik3c2a has been classified as Amber List (Moderate Evidence).
gene: PIK3C2A was added gene: PIK3C2A was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Review for gene: PIK3C2A was set to AMBER