Cerebellar and Pontocerebellar Hypoplasia
Gene: AIMP1
AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern.
Note bi-allelic variants in this gene are typically associated with hypomyelinating leukodystrophy/neurodegeneration.
Sources: LiteratureCreated: 13 Mar 2021, 2:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Pontocerebellar hypoplasia
- OMIM
- 603605
- Clinvar variants
- Variants in AIMP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Mar 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aimp1 has been classified as Red List (Low Evidence).
13 Mar 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AIMP1 was added gene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 30924036 Phenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia Review for gene: AIMP1 was set to RED