White matter disorders and cerebral calcification - narrow panel
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 3, OMIM:260600
- OMIM
- 603605
- Clinvar variants
- Variants in AIMP1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary spastic paraplegia
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Fetal anomalies
- 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 Leukodystrophy, hypomyelinating, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: AIMP1 was added gene: AIMP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3