Hereditary spastic paraplegia - adult onset

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 11 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. At least three families with same founder mutation.
Created: 3 May 2019, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: infantile and childhood onset. 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. 2 publications, affected members in large consanguineous Israeli Bedouin kinderd & in Filipino girl
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
OMIM
603605
Clinvar variants
Variants in AIMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AIMP1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AIMP1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to AIMP1. Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AIMP1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AIMP1 was set to