Previous symbols: IBM2. Aliases: Uae1.
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 |
|---|---|---|
| GNE Myopathy | causative germline partial loss of function |
mechanism: Biallelic Hypomorphic GNE Variants and Enzymatic Block
|
| Sialuria | causative germline gain of function |
mechanism: GNE Allosteric-Site Missense Variant
|
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 |
|---|---|---|---|
| thrombocytopenia 12 with or without myopathy MONDO:0958325 | AR | Definitive 2025-06-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.