Mitochondrial disorders
Gene: SDHB
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
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
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
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.
Tag Q3_22_rating was removed from gene: SDHB.
Source NHS GMS was added to SDHB. Source Expert Review Green was added to SDHB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SDHB were changed from Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Publications for gene: SDHB were set to 26925370; 22972948
Tag Q3_22_rating tag was added to gene: SDHB.
Gene: sdhb has been classified as Amber List (Moderate Evidence).
Publications for gene: SDHB were set to 26925370; 22972948
Publications for gene: SDHB were set to PMID: 26925370; 22972948
This gene has been classified as Green List (High Evidence).
Publications for SDHB were set to PMID: 26925370; 22972948
Mode of inheritance for SDHB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for SDHB were set to Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases
SDHB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SDHB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SDHB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SDHB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory