Inherited white matter disorders
Gene: SDHBComment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 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 complex I disorders. Green gene in the Mitochondrial panel version 1.10. A literature search revealed 2 recent studies with additional reports in patients with leukoencephalopathy, with PMID: 26925370 suggesting incomplete penetrance.Created: 25 Aug 2016, 11:54 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
Phenotypes for gene: SDHB were changed from Mitochondrial Leukoencephalopathy; Succinate dehydrogenase-deficient leukoencephalopathy; complex II deficiency to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
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).
Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy; Succinate dehydrogenase-deficient leukoencephalopathy;complex II deficiency
Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; 26642834 - multiple cases reported
Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance;26642834
Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy;Succinate dehydrogenase-deficient leukoencephalopathy
Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; PMID: 26642834
This gene has been classified as Amber List (Moderate Evidence).
Publications for SDHB were set to 25655951; 22972948
SDHB was created by [email protected]
SDHB was added to Inherited white matter disorderspanel. Sources: Expert list