Previous symbols: HPE3, HLP3. Aliases: HHG1, SMMCI, TPT, TPTPS, MCOPCB5.
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 |
|---|---|---|
| Acheiropodia | causative germline |
mechanism: Loss of Limb-Bud SHH Expression; Loss of ZRS-SHH Promoter Chromatin Contact
|
| ZRS-Related Limb Malformation | causative germline |
mechanism: Ectopic Limb-Bud SHH Regulatory Activity; Proposed SHH Misregulation after ZRS Duplication
|
| SHH Holoprosencephaly Spectrum |
untyped
Causative
|
mechanism: Reduced SHH Signaling in Forebrain Patterning
|
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 |
|---|---|---|---|
| holoprosencephaly 3 MONDO:0007733 | AD | Definitive 2026-08-04 |
SHH Holoprosencephaly Spectrum
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.