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Fetal anomalies

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported. Congenital onset of eye anomalies.
Created: 28 Nov 2021, 6:35 a.m. | Last Modified: 28 Nov 2021, 6:35 a.m.
Panel Version: 0.750

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315
  • 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

History Filter Activity

28 Nov 2021, 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).

28 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP1B1 were set to

28 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP1B1 was added gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A