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  3. CYP1B1
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Structural eye disease

Gene: CYP1B1

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

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

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Anterior segment dysgenesis 6, multiple subtypes, OMIML617315
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, OMIM:231300
  • Primary Congenital Glaucoma
OMIM
601771
Clinvar variants
Variants in CYP1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CYP1B1 were changed from Primary Congenital Glaucoma; Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; GLC3A; primary congenital glaucoma; 231300 to Anterior segment dysgenesis 6, multiple subtypes, OMIML617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, OMIM:231300; Primary Congenital Glaucoma

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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