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Adult onset hereditary spastic paraplegia

Gene: AIMP1

Amber List (moderate evidence)
AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 11 panels

6 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Created: 14 Mar 2022, 1:19 p.m.
Last Modified: 14 Mar 2022, 1:19 p.m.
Panel version: 1.95

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Review of literature did not reveal any adult onset cases - infantile and childhood onset only.

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
Created: 16 Aug 2021, 10:50 a.m. | Last Modified: 16 Aug 2021, 10:50 a.m.
Panel Version: 1.31
Created: 16 Aug 2021, 10:50 a.m.
Last Modified: 16 Aug 2021, 10:50 a.m.
Panel version: 1.31

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 20 Sep 2020, 7:49 a.m. | Last Modified: 20 Sep 2020, 7:49 a.m.
Panel Version: 1.7
Created: 20 Sep 2020, 7:49 a.m.
Last Modified: 20 Sep 2020, 7:49 a.m.
Panel version: 1.7

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

Created: 3 May 2019, 3:21 p.m.

Panel version: 0.52

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.
Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.148

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

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

Details

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

History Filter Activity

14 Mar 2022, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_phenotype was removed from gene: AIMP1.

14 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to AIMP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

16 Aug 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_phenotype tag was added to gene: AIMP1.

16 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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