Inherited white matter disorders

Gene: SDHB

Green List (high evidence)

SDHB (succinate dehydrogenase complex iron sulfur subunit B)
EnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 23 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)

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_660

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2016, Gel status: 4

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.

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy; Succinate dehydrogenase-deficient leukoencephalopathy;complex II deficiency

25 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; 26642834 - multiple cases reported

25 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance;26642834

25 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SDHB were set to Mitochondrial Leukoencephalopathy;Succinate dehydrogenase-deficient leukoencephalopathy

25 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SDHB were set to 25655951; 22972948; 26925370 - suggests incomplete penetrance; PMID: 26642834

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SDHB were set to 25655951; 22972948

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SDHB was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SDHB was created by [email protected]