Details of Disease

General Information of Disease (ID: DISJT7ID)

• Disease Name: TEK-related primary glaucoma
• Definition: Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.|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.
• Disease Hierarchy:
  DISJYSR1: Hereditary glaucoma
  DISJT7ID: TEK-related primary glaucoma

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TEK	TT9VGXW	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TEK	OT78YN57	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.