Aliases: cblE.
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 |
|---|---|---|
| Methylcobalamin Deficiency Type cblE | causative |
mechanism: MTRR Loss of Function
animal model: Mtrr gene-trap hypomorphic mouse
|
| Inborn Disorder of Cobalamin Metabolism and Transport | no genetic record |
mechanism: Impaired methionine synthase activity and remethylation
subtype: cblE
|
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 |
|---|---|---|---|
| methylcobalamin deficiency type cblE MONDO:0009354 | AR | Definitive 2021-07-02 |
Inborn Disorder of Cobalamin Metabolism and Transport
no genetic record
Methylcobalamin Deficiency Type cblE
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.