has material basis in gain of function germline mutation in TEK hereditary glaucoma TEK-related primary glaucoma https://github.com/monarch-initiative/mondo/issues/5476 https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6877 Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene. MONDO:0800182 Per criteria outlined by the ClinGen Lumping & Splitting Working Group, the molecular mechanism (loss-of-function) was found to be consistent among patients diagnosed with primary congenital glaucoma-3E (MONDO:0014998, MIM #617272), while their shared phenotypes indicated a spectrum of disease. However, in order to acknowledge the broader spectrum of onset and variable expressivity of the disease entity, this group proposes to remove the term "congenital" and recommend the name TEK-related primary glaucoma. GARD:0026473