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 |
|---|---|---|
| Glycogen Storage Disease Type IV | causative germline |
mechanism: GBE1 deficiency and impaired glycogen branching
diagnosis: GBE1 molecular genetic testing
|
| Adult Polyglucosan Body Disease |
untyped
Causative
|
mechanism: GBE1 deficiency and impaired glycogen branching
diagnosis: GBE1 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 |
|---|---|---|---|
| glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292 | AR | Definitive 2023-09-21 |
Glycogen Storage Disease Type IV
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.