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Hereditary Spastic Paraplegia - paediatric

Gene: AIMP1

Green List (high evidence)
AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated.

More than 10 families reported.
Created: 13 Mar 2021, 2:23 a.m. | Last Modified: 13 Mar 2021, 2:23 a.m.
Panel Version: 0.162

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 3, MIM# 260600

Publications

Created: 13 Mar 2021, 2:23 a.m.
Last Modified: 13 Mar 2021, 2:23 a.m.
Panel version: 0.162

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, MIM#260600
OMIM
603605
Clinvar variants
Variants in AIMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aimp1 has been classified as Green List (High Evidence).

13 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, MIM#260600

13 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIMP1 were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AIMP1 was added gene: AIMP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600