ai-gene-review has this gene at status INITIALIZED; 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 |
|---|---|---|
| Erythropoietic Protoporphyria | causative germline |
scoped to subtype: EPP
|
| Inherited Porphyria |
untyped
Causative
|
mechanism: Erythroid Protoporphyrin IX Accumulation
subtype: Erythropoietic Protoporphyria
scoped to subtype: Erythropoietic Protoporphyria
|
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 |
|---|---|---|---|
| protoporphyria, erythropoietic, 1 MONDO:0008319 | AR | Definitive 2023-01-27 |
Erythropoietic Protoporphyria
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.