GJA8

gap junction protein alpha 8
OMIM: 600897
PanelMode of inheritanceDetails
4 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT ZONULAR PULVERULENT TYPE 1 116200, CATARACT-MICROCORNEA SYNDROME 116150
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT-MICROCORNEA SYNDROME, CATARACT ZONULAR PULVERULENT TYPE 1
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract 1, multiple types, 116200