Hereditary spastic paraplegia
Gene: AIMP1
AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 11 panels
1 review
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
260600
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 3, OMIM:260600
- OMIM
- 603605
- Clinvar variants
- Variants in AIMP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Arthrogryposis
- Early onset or syndromic epilepsy
History Filter Activity
16 Aug 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
9 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 0
Added New Source
Richard Scott (Genomics England Curator)AIMP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list
9 Feb 2017, Gel status: 0
Created
Richard Scott (Genomics England Curator)AIMP1 was created by richardhywel