Previous symbols: SPG3, SPG3A. Aliases: FSP1, AD-FSP.
ai-gene-review has this gene at status DRAFT; 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 Spastic Paraplegia 3A | causative germline dominant negative |
mechanism: ATL1 Variant Impairing the Atlastin-1 GTPase Cycle
animal model: Atl1 K80A knock-in / Reep1 knockout double-mutant mouse
|
| Hereditary Sensory Neuropathy Type 1D |
untyped
Causal
|
mechanism: Heterozygous ATL1 Variant with Reduced Atlastin-1 GTPase Activity
|
| Hereditary Spastic Paraplegia | untyped |
mechanism: Atlastin-1 ER Tubular Network Defect (SPG3A)
subtype: SPG3A
scoped to subtype: SPG3A
|
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, type 1D MONDO:0013381 | AD | Definitive 2022-02-10 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.