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Severe Paediatric Disorders

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 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CYP1B1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3); Mode of inheritance: ND | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
601771
Clinvar variants
Variants in CYP1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CYP1B1 was chang