Glaucoma (developmental)

Gene: CYP1B1

Green List (high evidence)

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 too

Created: 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

• 9463332
• 9097971
• 9497261
• 12372064

Green List (high evidence)

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 too

Created: 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

• 9463332
• 9097971
• 9497261
• 12372064

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Congenital Glaucoma and Juvenile- or Adult-Onset Primary Open Angle Glaucoma; Peters anomaly

Publications

• 1690
• 9395

Variants in this GENE are reported as part of current diagnostic practice