ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Acute Erythroid Leukemia | cooperating somatic | |
| Acute Myeloid Leukemia with CEBPA Somatic Mutations | modifier somatic |
scoped to subtype: CEBPA bZIP In-Frame-Indel AML
|
| Myelodysplastic Syndrome | somatic driver somatic | |
| Heyn-Sproul-Jackson syndrome |
untyped
Causal heterozygous variant
|
mechanism: DNMT3A dysfunction
diagnosis: DNMT3A molecular genetic testing
|
| Peripheral T-Cell Lymphoma |
untyped
Recurrent Somatic Mutation
|
scoped to subtype: PTCL-NOS
|
| Tatton-Brown-Rahman overgrowth syndrome |
untyped
Causal heterozygous loss-of-function variant
|
mechanism: DNMT3A loss of function
diagnosis: DNMT3A molecular genetic testing
|
| MBD4-Related Tumor Predisposition Syndrome | no genetic record somatic |
mechanism: Somatic DNMT3A CpG>TpG Mutation
|
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 |
|---|---|---|---|
| Tatton-Brown-Rahman overgrowth syndrome MONDO:0014382 | AD | Definitive 2023-06-08 |
|
| Heyn-Sproul-Jackson syndrome MONDO:0032882 | AD | Limited 2023-06-07 |
Heyn-Sproul-Jackson syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.