Genomics England
GMS Panels
Panels
Genes and Entities

VSX2

visual system homeobox 2
OMIM: 142993
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, cataracts and iris abnormalities
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA ISOLATED TYPE 2 610093, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092, MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3, MICROPHTHALMIA ISOLATED TYPE 2
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with coloboma 3, 610092