Structural eye disease
Gene: CYP1B1
DB Reis et al. 2016: among glaucoma cases with CYP1B1, 3 unrelated ones had anterior segment anomalies, sclerocornea or microphthalmia, other cases have been published tooCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, Primary Congenital, A; GLC3A; 231300; Peters anomaly, 604229; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; primary congenital glaucoma; Primary Congenital Glaucoma
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Reis et al. 2016: among glaucoma cases with CYP1B1, 3 unrelated ones had anterior segment anomalies, sclerocornea or microphthalmia, other cases have been published tooCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, Primary Congenital, A, GLC3A, 231300; Peters anomaly, 604229; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; primary congenital glaucoma; Primary Congenital Glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to CYP1B1. Added phenotypes Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; primary congenital glaucoma; Primary Congenital Glaucoma; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset for gene: CYP1B1 Publications for gene CYP1B1 were changed from 9463332; 9097971; 9497261; 12372064 to 12372064; 9463332; 9097971; 9497261
gene: CYP1B1 was added gene: CYP1B1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP1B1 were set to 9463332; 9097971; 9497261; 12372064 Phenotypes for gene: CYP1B1 were set to Glaucoma 3, Primary Congenital, A; GLC3A; 231300; Peters anomaly, 604229; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; primary congenital glaucoma; Primary Congenital Glaucoma