Genomics England
GMS Panels
Panels
Genes and Entities

PIK3C2A

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
OMIM: 603601
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculoskeletodental syndrome, OMIM:618440, Oculocerebrodental syndrome, MONDO:0034145
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculoskeletodental syndrome 618440
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculoskeletodental syndrome 618440