Genomics England
GMS Panels
Panels
Genes and Entities

PITX2

paired like homeodomain 2
OMIM: 601542
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AXENFELD-RIEGER SYNDROME TYPE 1 180500, PETERS ANOMALY 604229, RING DERMOID OF CORNEA 180550, IRIDOGONIODYSGENESIS TYPE 2 137600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RING DERMOID OF CORNEA, IRIDOGONIODYSGENESIS TYPE 2, AXENFELD-RIEGER SYNDROME TYPE 1, PETERS ANOMALY
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Axenfeld-Rieger syndrome, type 1 (180500), Anterior segment dysgenesis 4 (137600)
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Axenfeld-Rieger syndrome, type 1 180500, Anterior segment dysgenesis 4 137600