CYP1B1

cytochrome P450 family 1 subfamily B member 1
OMIM: 601771, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CYP1B1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 231300 Peters anomaly, 604229 Primary Congenital Glaucoma Glaucoma 3, Primary Congenital, A GLC3A primary congenital glaucoma
Green CYP1B1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Green CYP1B1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Red CYP1B1 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	Not set	Sources Emory Genetics Laboratory
Red CYP1B1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 Peters anomaly, 604229
Red CYP1B1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green CYP1B1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	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