Inherited white matter disorders

Gene: AIMP1

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.

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

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.