Previous symbols: ZFHX1B. Aliases: KIAA0569, SIP-1, SIP1.
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 |
|---|---|---|
| Hirschsprung Disease |
untyped
Germline Mutations
|
|
| Mowat-Wilson syndrome |
untyped
Causal heterozygous loss-of-function variant
|
mechanism: 2q22 contiguous-gene deletion removing ZEB2; ZEB2 haploinsufficiency
subtype: Monosomy 2q22
diagnosis: ZEB2 molecular genetic testing
|
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 |
|---|---|---|---|
| Mowat-Wilson syndrome MONDO:0009341 | AD | Definitive 2026-07-01 |
Mowat-Wilson syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.