Previous symbols: PMSL2. Aliases: H_DJ0042M02.9, HNPCC4, MLH4, PMS-2.
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 |
|---|---|---|
| Constitutional Mismatch Repair Deficiency | causative germline loss of function |
mechanism: Biallelic Germline Mismatch Repair Gene Inactivation
subtype: CMMRD4
scoped to subtype: CMMRD4
|
| Lynch Syndrome | causative germline loss of function |
mechanism: DNA Mismatch Repair Deficiency
subtype: PMS2 Mutation
|
| Small Intestine Cancer | risk factor | |
| X-linked Dystonia-Parkinsonism | modifier | |
| Huntington Disease |
untyped
Genetic Modifier
|
|
| MSI-High Colorectal Cancer |
untyped
Germline Loss of Function
|
|
| MSI-High Endometrial Cancer |
untyped
Germline Loss-of-Function Mutations
|
|
| Endometrial Endometrioid Adenocarcinoma | no genetic record |
mechanism: Mismatch Repair Deficiency
|
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 |
|---|---|---|---|
| Lynch syndrome MONDO:0005835 | AD | Definitive 2022-12-30 |
Lynch Syndrome
causative
|
| mismatch repair cancer syndrome 1 MONDO:0010159 | AR | Definitive 2022-12-30 |
|
| hereditary breast carcinoma MONDO:0016419 | AD | Disputed 2023-12-21 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.