Clinical Domain Working Groups

Glaucoma Variant Curation Expert Panel

Membership

The Scope of the Glaucoma VCEP will be to curate variants in the following genes associated with glaucoma:

- MYOC (OMIM 601652) associated with adult- and juvenile-onset primary open-angle glaucoma (OMIM 137750)

- CYP1B1 (OMIM 601771) associated with primary congenital glaucoma (OMIM 231300) and anterior segment dysgenesis (OMIM 617315)

Both genes are not associated with any additional phenotypes.

The MYOC variant database (http://www.myocilin.com) was created in 2007 by A/Prof Alex Hewitt, under the supervision of Prof Jamie Craig. Dr Souzeau has been curating the MYOC variant database since 2008. The database has current data on 279 variants while ClinVar lists 47 MYOC variants, and almost half of them have insufficient evidence to assess pathogenicity.

Similarly, there have been over 250 variants reported in the literature for CYP1B1. However, ClinVar currently list 91 single gene variants, of which half are classified as variants of uncertain significance.

Therefore, this expert group will first address the curation of variants for these two glaucoma–associated genes.

Expert Panel Status

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

Expert Panel Membership

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