Aliases: Munc13-4.
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 |
|---|---|---|
| Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive To Steroids | susceptibility |
mechanism: Impaired Cytotoxic Lymphocyte Granule-Mediated Killing
|
| Hemophagocytic Lymphohistiocytosis |
untyped
Causative
|
mechanism: Defective Cytotoxic Granule Exocytosis
subtype: FHL3
scoped to subtype: FHL3
|
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 |
|---|---|---|---|
| familial hemophagocytic lymphohistiocytosis 3 MONDO:0012146 | AR | Definitive 2024-01-03 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.