Genomics England

paired like homeodomain 2

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	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 3.122	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 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Axenfeld-Rieger syndrome, type 1 180500, Anterior segment dysgenesis 4 137600