Aliases: KIAA0526, LCB2, LCB2A, hLCB2a.
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 |
|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy Type 1C | causative neomorphic |
mechanism: SPTLC2 Missense Variant Alters Serine Palmitoyltransferase Substrate Preference
|
| Amyotrophic Lateral Sclerosis |
untyped
Pathogenic Variants
|
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 |
|---|---|---|---|
| amyotrophic lateral sclerosis MONDO:0004976 | AD | Strong 2024-06-26 |
Amyotrophic Lateral Sclerosis
untyped
|
| neuropathy, hereditary sensory and autonomic, type 1C MONDO:0013337 | AD | Definitive 2023-01-10 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.