Previous symbols: ZNF856B. Aliases: CTIP-2, CTIP2, hRIT1-alpha, SMARCM2.
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 |
|---|---|---|
| Mixed Phenotype Acute Leukemia | somatic driver somatic |
mechanism: Failure of Lineage Commitment; Immature T-Lineage Program with Retained Myeloid Potential
scoped to subtype: MPAL T/myeloid NOS
|
| Immunodeficiency 49 |
untyped
CAUSATIVE
germline
dominant negativeloss of function
|
mechanism: BCL11B Haploinsufficiency or Truncation; Dominant-Negative BCL11B Zinc-Finger Missense Variant; Reduced BCL11B-NuRD Interaction
subtype: IDDSFTA
|
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 |
|---|---|---|---|
| intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060763 | AD | Definitive 2024-12-19 |
Immunodeficiency 49
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.