Glaucoma (developmental)
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Expert review green, and >3 independent families and multiple different variants reported.Created: 12 Apr 2017, 11:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Congenital Glaucoma and Juvenile- or Adult-Onset Primary Open Angle Glaucoma; Peters anomaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CYP1B1 were set to 9097971; 9463332;9497261;12372064
CYP1B1 was added to Glaucoma (developmental)panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene CYP1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP1B1 was added to Glaucoma (developmental)panel. Sources: UKGTN
CYP1B1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
CYP1B1 was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services
CYP1B1 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
CYP1B1 was added to Glaucoma (developmental)panel. Sources: Eligibility Statements for GeL