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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 6, multiple subtypes, OMIML617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, OMIM:231300, Primary Congenital Glaucoma