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 |
|---|---|---|
| SLC25A46-Related Hereditary Motor And Sensory Neuropathy |
causative
germline
loss of function
CLINGEN: definitive
|
mechanism: Biallelic SLC25A46 Loss of Function
animal model: AAV-Slc25a46 gene replacement in Slc25a46 knockout mouse; Slc25a46 knockout mouse; Slc25a46 mutant mouse (forward-genetic); slc25a46 zebrafish morphant
|
| Pontocerebellar Hypoplasia |
untyped
Causative
|
mechanism: Mitochondrial Membrane Dynamics Disruption
subtype: PCH1E
scoped to subtype: PCH1E
|
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 |
|---|---|---|---|
| Leigh syndrome MONDO:0009723 | AR | Limited 2020-08-27 |
Leigh Syndrome
not named
|
| neuropathy, hereditary motor and sensory, type 6B MONDO:0014671 | AR | Definitive 2020-05-26 |
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.