CYP1B1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CYP1B1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315

Green CYP1B1 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300

Green CYP1B1 in Mendeliome


Version 1.1902

review 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

Green CYP1B1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)

Green CYP1B1 in Fetal anomalies


Version 1.255

review 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

Green CYP1B1 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)

Green CYP1B1 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)