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Mendeliome

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

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, 12:14 a.m. | Last Modified: 8 Oct 2020, 12:14 a.m.
Panel Version: 0.4833

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

- ASG phenotype has been reproted in hom and chets (PMID:21730847 and OMIM).
- Congenital glaucoma occurs when enzyme activity >10-fold decrease (OMIM).

PMID:27243976- for enzyme activity -> phenotype correlation summary.
Created: 17 Apr 2020, 4:19 a.m. | Last Modified: 17 Apr 2020, 4:19 a.m.
Panel Version: 0.2301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 6, multiple subtypes, 617315
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
OMIM
601771
Clinvar variants
Variants in CYP1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP1B1 were set to 21730847; 27243976

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp1b1 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP1B1 were set to

17 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP1B1 was added gene: CYP1B1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP1B1 was set to Unknown