Aliases: NTE, sws, iPLA2delta, SPG39.
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 |
|---|---|---|
| Cerebellar Ataxia-Hypogonadism Syndrome | causative germline |
mechanism: PNPLA6 / Neuropathy Target Esterase Phospholipid Dysfunction
subtype: PNPLA6-related Gordon Holmes syndrome
|
| Boucher-Neuhauser Syndrome |
untyped
Loss of function mutation
|
mechanism: Loss of neuropathy target esterase (NTE) activity
|
| Complex Hereditary Spastic Paraplegia | untyped |
mechanism: Neuronal Membrane-Lipid and Ganglioside Metabolic Failure
subtype: SPG39
scoped to subtype: SPG39
|
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 |
|---|---|---|---|
| PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 | AR | Definitive 2022-11-02 |
no dismech entry |
| retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 | AR | Definitive 2023-05-30 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.