Clinical Domain Working Groups

Glaucoma Variant Curation Expert Panel

Membership Documents

The Glaucoma Variant Curation Expert Panel aims to develop variant classification criteria adapted from the ACMG/AMP guidelines for glaucoma-associated genes. The current scope of the Glaucoma VCEP is to curate variants in the following two genes:

- MYOC (OMIM 601652) is the most common gene associated with adult- and juvenile-onset primary open-angle glaucoma (OMIM 137750) in an autosomal dominant manner with incomplete penetrance. There are over 280 coding MYOC variants reported in the literature.

- CYP1B1 (OMIM 601771) is the most common gene associated with primary congenital glaucoma (OMIM 231300). CYP1B1 variants cause a phenotypic spectrum that also include anterior segment dysgenesis (OMIM 617315) and adult- and juvenile-onset primary open-angle glaucoma. They are transmitted in an autosomal recessive manner with incomplete penetrance. Over 290 coding CYP1B1 variants have been reported.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Aug. 2019
Develop Classification Rules
Completed Mar. 2021
Pilot Rules
Completed Sep. 2021
Expert Panel Approval
Completed Oct. 2021

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.