Inherited white matter disorders
Gene: SUCLA2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 unrelated cases with different variants 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 Mitochondrial DNA depletion syndrome 5. Green gene in the Mitochondrial panel version 1.10.
Created: 25 Aug 2016, 12:56 p.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
Phenotypes for gene: SUCLA2 were changed from Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
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).
Phenotypes for SUCLA2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 5;Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
This gene has been classified as Green List (High Evidence).
SUCLA2 was added to Inherited white matter disorderspanel. Sources: Expert list
SUCLA2 was created by [email protected]