Previous symbols: MLT. Aliases: PCASP1.
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 |
|---|---|---|
| Combined Immunodeficiency Due To MALT1 Deficiency | causative germline loss of function |
mechanism: Biallelic MALT1 Loss of Function
|
| MALT Lymphoma |
untyped
Defining Genetic Lesion
|
|
| Marginal Zone Lymphoma | no genetic record |
mechanism: Deregulation of Marginal Zone B-Cell Differentiation Signalling
|
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 |
|---|---|---|---|
| combined immunodeficiency due to MALT1 deficiency MONDO:0014197 | AR | Definitive 2022-07-21 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.