Previous symbols: HSN1. Aliases: LCB1, SPTI, HSAN1, hLCB1.
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 |
|---|---|---|
| Amyotrophic Lateral Sclerosis 27, Juvenile | causative gain of function |
mechanism: Pathogenic SPTLC1 Variation
animal model: Sptlc1 exon 2 deletion mouse
|
| Hereditary Sensory and Autonomic Neuropathy Type 1A | causative neomorphic |
mechanism: SPTLC1 Variant Shifts Serine Palmitoyltransferase Substrate Preference
treatment: Allele-Specific Antisense Oligonucleotide Silencing of Mutant SPTLC1
|
| Juvenile Amyotrophic Lateral Sclerosis | causative de novo gain of function |
mechanism: Serine Palmitoyltransferase Escape from ORMDL Inhibition
subtype: ALS27
scoped to subtype: ALS27
|
| Hereditary Sensory and Autonomic Neuropathy |
untyped
Causal
|
mechanism: Neurotoxic Deoxysphingolipid Formation
scoped to subtype: HSAN1
|
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 |
|---|---|---|---|
| neuropathy, hereditary sensory and autonomic, type 1A MONDO:0008086 | AD | Definitive 2026-03-31 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.