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Hearing loss

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

Eleanor Williams (Genomics England Curator)

I don't know

Associated with Oculoskeletodental syndrome 618440 (AR) in OMIM 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. 3 out 5 indviduals (one from each family) showed hearing loss (non-progressive hearing deficiency, bilateral moderate conductive hearing loss and sensorineural hearing loss, hearing aids at 22 years old). Homozygous loss-of-function mutations in PIK3C2A were identified in each family.
Sources: Literature
Created: 15 Nov 2019, 12:15 a.m.

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

15 Nov 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PIK3C2A was added gene: PIK3C2A was added to Hearing loss. 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 AMBER