Previous symbols: TCF2. Aliases: LFB3, VHNF1, HNF1beta, MODY5, HNF1β.
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 |
|---|---|---|
| Chromosome 17q12 Deletion Syndrome | causative germline | |
| Chromosome 17q12 Duplication Syndrome | causative |
mechanism: Increased 17q12 Gene Dosage
|
| Mayer-Rokitansky-Kuster-Hauser_Syndrome | causative |
mechanism: Loss of Mesodermal Developmental Transcription Factor Dosage
subtype: Type 2
animal model: Wnt7a-Cre;Hnf1b-floxed Müllerian duct epithelium conditional knockout mouse
|
| Prune Belly Syndrome | disputed | |
| Diabetes mellitus |
untyped
Causative
|
mechanism: Monogenic Beta-Cell Dysfunction
subtype: renal cysts and diabetes syndrome
scoped to subtype: monogenic diabetes
|
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 |
|---|---|---|---|
| renal cysts and diabetes syndrome MONDO:0007669 | AD | Definitive 2021-01-19 |
Diabetes mellitus
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.