Gene Symbol:
CYP1B1
HGNC:2597
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p22.2
Filters:

Definitive classifications

AR
07/22/2015
Evaluated
09/11/2023
Submitted
AR
04/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
CYP1B1-related glaucoma with or without anterior segment dysgenesis
AR
01/19/2023
Evaluated
04/21/2024
Submitted

Strong classifications

anterior segment dysgenesis 6
Submitted as: OMIM:617315
AD
12/29/2020
Evaluated
12/30/2020
Submitted
AR
01/31/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Peters anomaly
Submitted as: Orphanet:708
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital glaucoma
Submitted as: Orphanet:98976
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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