Genomics England
GMS Panels
Panels
Genes and Entities

CYP1B1

cytochrome P450 family 1 subfamily B member 1
OMIM: 601771
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Congenital Glaucoma, Peters anomaly, 604229, Glaucoma 3, Primary Congenital, A, Glaucoma 3, Primary Congenital, A, GLC3A, 231300, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, GLC3A, primary congenital glaucoma, 231300