LTBP2 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Glaucoma	causative germline loss of function	mechanism: LTBP2 Loss and Anterior Segment Microfibril Deficiency subtype: GLC3D scoped to subtype: GLC3D
Weill-Marchesani syndrome	causative	mechanism: LTBP2-Dependent Microfibril-Bundle Assembly Failure subtype: WMS3

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
glaucoma 3, primary congenital, D MONDO:0013122	AR	Definitive 2023-03-16	Congenital Glaucoma causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.