Genomics England
GMS Panels
Panels
Genes and Entities

GJA8

gap junction protein alpha 8
OMIM: 600897
PanelMode of inheritanceDetails
4 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
Cataract-Microcornea Syndrome, Cataract 1, multiple types, 116200, CATARACT-MICROCORNEA SYNDROME, CATARACT ZONULAR PULVERULENT TYPE 1, Cataract 1, 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 TYPE 1 116200, CATARACT-MICROCORNEA SYNDROME 116150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT-MICROCORNEA SYNDROME, CATARACT ZONULAR PULVERULENT TYPE 1
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 1, multiple types, 116200