Previous symbols: C6orf209. Aliases: FLJ11240, bA810I22.1, cblF.
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 |
|---|---|---|
| Inborn Disorder of Cobalamin Metabolism and Transport | no genetic record |
mechanism: Defective cobalamin absorption, transport, and cellular uptake
subtype: cblF
|
| Methylmalonic Acidemia With Homocystinuria, Type cblJ | no genetic record |
mechanism: Failure of the ABCD4-LMBD1 Complex at the Lysosomal Membrane
|
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 |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 | AR | Definitive 2021-03-26 |
Inborn Disorder of Cobalamin Metabolism and Transport
no genetic record
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.