Aliases: SPL.
SGPL1 (sphingosine-1-phosphate lyase 1) is named by 1 disorder entry.
ai-gene-review gives SGPL1's core molecular functions as pyridoxal phosphate binding; and sphinganine-1-phosphate aldolase activity, acting in sphingolipid catabolic process at the endoplasmic reticulum membrane.
Sphingosine Phosphate Lyase Insufficiency Syndrome types SGPL1 as causative with germline variants, and ClinGen rates the pair definitive. The gene sits on Biallelic SGPL1 Loss of Function, which marks the lyase activity decreased; the sphingolipid catabolic process is annotated on the downstream accumulation node rather than on a node naming the gene, so the two layers share 0 process terms by exact identifier.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
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 |
|---|---|---|
| Sphingosine Phosphate Lyase Insufficiency Syndrome |
causative
germline
CLINGEN: definitive
|
mechanism: Biallelic SGPL1 Loss of Function
|
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 |
|---|---|---|---|
| nephrotic syndrome 14 MONDO:0033203 | AR | Definitive 2024-09-18 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.