Clinical Domain Working Groups
Glaucoma Variant Curation Expert Panel
Membership DocumentsThe 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
Documents
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ClinGen Glaucoma Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1Curation Activity Procedures - November 19, 2021 - Release notes from v1: Added MYOC HGNC ID, Replaced disease identifiers Primary open-angle glaucoma (POAG) and juvenile onset open-angle glaucoma (JOAG) (MIM: 137750) with primary open angle glaucoma (MONDO:0007665) and juvenile open angle glaucoma (MONDO:0020367) Archived Document
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ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - October 12, 2021 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.