Mitochondrial disorders

Gene: SDHB

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on a Mitochondrial panel (R354 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. At least 10 affected individuals reported in literature.

Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224

Publications

• 27604842
• 32124427
• 22972948
• 26925370

Green List (high evidence)

Four unrelated families reported with bi-allelic variants in this gene. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease. However, this still leaves three unrelated families. I cannot quite follow the reasoning behind demotion to Amber.

Created: 13 Apr 2020, 7:59 a.m. | Last Modified: 13 Apr 2020, 7:59 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex II deficiency; mitochondrial leucoencephalopathy

Publications

• 22972948
• 26925370
• 27604842

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

Comment on list classification: Demoted from Green to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019).

Created: 11 Jul 2019, 1:07 p.m. | Last Modified: 11 Jul 2019, 1:07 p.m.

Panel Version: 1.408

Comment on mode of inheritance: Homozygous variants reported with association with mitochondrial leukoencephalopathy and complex II deficiency.

Created: 15 Mar 2016, 8:44 a.m.

Comment on list classification: Two reviewers suggesting that this gene should be green: Carl Fratter also suggests this should be green. Gene therefore promoted to green.

Created: 15 Mar 2016, 8:40 a.m.

Green List (high evidence)