Inherited white matter disorders
Gene: AIMP1Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for AIMP1 were set to 25655951; 24958424; 21092922; 24958424;26173967
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for AIMP1 were set to 25655951; 24958424; 21092922;
Publications for AIMP1 were set to 25655951
Mode of inheritance for AIMP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600
AIMP1 was added to Inherited white matter disorderspanel. Sources: Expert list
AIMP1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
AIMP1 was created by ellenmcdonagh