Inherited white matter disorders

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: See PMID: 21397067 which is a comment on PMID: 21092922 and raises concerns over the assigned disorder and genetic findings, and the authors reply to this comment.
Created: 26 Aug 2016, 8:58 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, is a probable DD gene for LEUKODYSTROPHY, HYPOMYELINATING, 3. Two unrelated cases/families reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Hypomyelinating leukodystrophy 3. Green gene in the ID panel Version 1.2. An additional two families (one from Pakistan, another from Iran) reported with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration (PMID: 26173967) - though I am unsure whether this is included as a white matter disorder/leukodystrophy as the full text is unavailable.
Created: 26 Aug 2016, 8:09 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_593

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Two variants reported in this phenotype.
Created: 6 Jul 2016, 12:58 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 12:57 p.m.

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AIMP1 were set to 25655951; 24958424; 21092922; 24958424;26173967

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Jul 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Jul 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AIMP1 were set to 25655951; 24958424; 21092922;

6 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AIMP1 were set to 25655951

6 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for AIMP1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600

6 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

AIMP1 was added to Inherited white matter disorderspanel. Sources: Expert list

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AIMP1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AIMP1 was created by ellenmcdonagh