Genomics England
GMS Panels
Panels
Genes and Entities

GJA3

gap junction protein alpha 3
OMIM: 121015
PanelMode of inheritanceDetails
3 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Zonular Pulverulent Cataract, Cataract 14, multiple types, 601885, CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, Cataract 14, multiple types
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT ZONULAR PULVERULENT CATARACT TYPE 3