1. Genes and Genomic Entities
  2. CYP1B1

CYP1B1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green CYP1B1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Green CYP1B1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 1.51

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Red CYP1B1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Green CYP1B1 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 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
    Green CYP1B1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
    • Anterior segment dysgenesis 6, multiple subtypes, 617315