Genomics England
GMS Panels
Panels
Genes and Entities

PITX3

paired like homeodomain 3
OMIM: 602669
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
Anterior segment mesenchymal dysgenesis, 107250, Cataract posterior polar 4, Anterior segment mesenchymal dysgenesis, cataract autosomal dominant, cataract posterior polar type 4 (CTPP4), Cataract 11, multiple types, Cataract 11, syndromic
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 AUTOSOMAL DOMINANT 604219, CATARACT POSTERIOR POLAR TYPE 4 610623, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, CATARACT POSTERIOR POLAR TYPE 4, CATARACT AUTOSOMAL DOMINANT
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment mesenchymal dysgenesis, 107250, Cataract 11, multiple types, 610623, Eye Disorders