Open-angle glaucoma: genes and variants
Explore variant evidence for Open-angle glaucoma across 3 analyzed proteins (OPTN, ABCA1, CA2). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 141 variants of uncertain significance and 8 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Open-angle glaucoma
OPTN: Optineurin
It serves as an adaptor in selective autophagy, vesicle trafficking, and inflammatory signaling and helps target damaged mitochondria or protein aggregates for clearance. Pathogenic variants can cause amyotrophic lateral sclerosis or certain glaucomas depending on the mechanism.
1 ClinVar pathogenic / likely pathogenic and 149 uncertain variants in OPTN have source records linked to Open-angle glaucoma. Association strength is not clinical gene validity.
ABCA1: Phospholipid-transporting ATPase ABCA1
It transfers cellular cholesterol and phospholipids to lipid-poor apolipoproteins, especially ApoA-I, initiating HDL formation and reverse cholesterol transport. Severe loss of function causes Tangier disease, while partial impairment can markedly lower HDL cholesterol.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ABCA1 have source records linked to Open-angle glaucoma. Association strength is not clinical gene validity.
CA2: Carbonic anhydrase 2
It rapidly interconverts carbon dioxide and bicarbonate, supporting acid-base balance, renal acidification, respiration, bone remodeling, and fluid secretion. Biallelic loss-of-function variants cause carbonic anhydrase II deficiency, with osteopetrosis, renal tubular acidosis, and cerebral calcification.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in CA2 have source records linked to Open-angle glaucoma. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): OPA1.
ClinVar pathogenic and likely pathogenic variants linked to Open-angle glaucoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OPTN K557T | 557 | CCHC NOA-type | Pathogenic / likely pathogenic (★) |
Diseases related to Open-angle glaucoma
- Amyotrophic lateral sclerosis, also linked to OPTN
- Epilepsy, also linked to CA2
- Hypoalphalipoproteinemia, primary, 1, also linked to ABCA1
- Tangier disease, also linked to ABCA1
- Migraine, also linked to CA2
- Glaucoma 1, open angle, E, also linked to OPTN
- Osteopetrosis with renal tubular acidosis, also linked to CA2
- Lennox-Gastaut syndrome, also linked to CA2
Frequently asked questions
Which genes have records linked to Open-angle glaucoma?
This view contains 3 analyzed proteins: OPTN, ABCA1, CA2. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 141 variants of uncertain significance and 8 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 175 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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