Inherited white matter disorders
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_660
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy; Succinate dehydrogenase-deficient leukoencephalopathy;complex II deficiency
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; 26642834 - multiple cases reported
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance;26642834
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy;Succinate dehydrogenase-deficient leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; PMID: 26642834
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for SDHB were set to 25655951; 22972948
Created
Ian Berry (Leeds Genetics Laboratory)SDHB was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)SDHB was added to Inherited white matter disorderspanel. Sources: Expert list