Previous symbols: AARS. Aliases: CMT2N, AlaRS.
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 |
|---|---|---|
| AARS1-related Leukoencephalopathy | causative germline loss of function |
mechanism: Biallelic AARS1 Loss of Function; Heterozygous AARS1 p.Cys152Phe Variant
|
| Charcot-Marie-Tooth Disease Type 2 | causative |
mechanism: Aminoacyl-tRNA Synthetase Loss of Function
subtype: CMT2N
scoped to subtype: CMT2N
|
| Trichothiodystrophy | causative germline |
mechanism: Cytosolic Aminoacyl-tRNA Synthetase Loss of Function; Reduced Cognate tRNA Charging
subtype: Non-photosensitive TTD; TTD8 (AARS1)
scoped to subtype: Non-photosensitive TTD
|
| Antisynthetase Syndrome |
untyped
Autoantigen
|
mechanism: Loss of Tolerance to Aminoacyl-tRNA Synthetases
|
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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2N MONDO:0013212 | AD | Definitive 2024-03-14 |
Charcot-Marie-Tooth Disease Type 2
causative
|
| developmental and epileptic encephalopathy, 29 MONDO:0014593 | AR | Definitive 2025-12-19 |
AARS1-related Leukoencephalopathy
causative
|
| AARS1-related leukoencephalopathy MONDO:1010132 | AD | Limited 2025-08-27 |
AARS1-related Leukoencephalopathy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.