Glaucoma congenital
Gene: CYP1B1

CYP1B1 (cytochrome P450 family 1 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000138061
EnsemblGeneIds (GRCh37): ENSG00000138061
OMIM: 601771, Gene2Phenotype
CYP1B1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families reported. Onset variable, but frequently congenital.
Created: 8 Oct 2020, 12:11 a.m. | Last Modified: 8 Oct 2020, 12:11 a.m.

Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300

Publications

Created: 8 Oct 2020, 12:11 a.m.
Last Modified: 8 Oct 2020, 12:11 a.m.
Panel version: 0.47

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300

OMIM

601771

Clinvar variants

Variants in CYP1B1

Penetrance

None

Publications

Panels with this gene