FOXE3

PanelMode of inheritanceDetails
4 panels
R-numbers: R31
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 34, multiple types, OMIM:612968, cataract 34 multiple types, MONDO:0013067, Peter's anomaly, microphthalmia.
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CONGENITAL PRIMARY APHAKIA 610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256, Cataract 34, multiple types, OMIM:612968, {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment mesenchymal dysgenesis, OMIM:107250, Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256