Previous symbols: TNRC11, FGS1. Aliases: CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS, ARC240, Kto.
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 |
|---|---|---|
| FG Syndrome 1 | causative germline |
mechanism: MED12 p.Arg961Trp Alters CDK8 Kinase Module Function
variant: MED12 c.2881C>T (p.Arg961Trp); MED12 p.Gly958Glu
|
| Hardikar Syndrome | causative de novo loss of function |
mechanism: Extremely Skewed X-Chromosome Inactivation; MED12 Truncating Loss of Function; Reduced MED12 Dosage in the Mediator Kinase Module
|
| Blepharophimosis-Intellectual Disability Syndrome, MKB Type | untyped |
mechanism: MED12 Variant-Dependent Transcriptional Dysfunction
|
| Breast Fibroadenoma |
untyped
Somatic driver mutation in most conventional fibroadenomas
somatic
|
mechanism: Stromal MED12 Exon-2 Driver Mutation
|
| Mediator Complex Neurodevelopmental Disorder |
untyped
Causative
|
mechanism: CDK8 Kinase Module Dysfunction; MED12-COMPASS H3K4 Methylation Failure
subtype: MED12
phenotype: Congenital Heart Defects; Corpus Callosum Anomalies; Hypotonia; Intellectual Disability; Seizures
scoped to subtype: MED12
|
| Uterine Leiomyoma | untyped somatic gain of function |
mechanism: Driver Mutation-Initiated Clonal Transformation
subtype: MED12-mutant
|
| MED13 Syndrome | no genetic record |
mechanism: CKM hinge anchoring by MED13
|
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 |
|---|---|---|---|
| MED12-related intellectual disability syndrome MONDO:0100000 | XL | Definitive 2025-10-15 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.