Mitochondrial disorder with complex II deficiency
Gene: SDHB
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:40 a.m. | Last Modified: 1 Feb 2023, 11:40 a.m.
Panel Version: 1.11
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. At least 10 affected individuals reported in literature.Created: 30 Aug 2022, 9:24 a.m. | Last Modified: 30 Aug 2022, 9:24 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with complex II deficiencyCreated: 10 May 2019, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHB; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.Created: 1 Feb 2019, 4:31 p.m. | Last Modified: 11 Jul 2019, 1:05 p.m.
Panel Version: 0.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:38 a.m.
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. Tag Q3_22_NHS_review was removed from gene: 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 No OMIM phenotype to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Publications for gene: SDHB were set to 22972948
Tag Q3_22_rating tag was added to gene: SDHB. Tag Q3_22_NHS_review tag was added to gene: SDHB.
Gene: sdhb has been classified as Amber List (Moderate Evidence).
Gene: sdhb has been classified as Amber List (Moderate Evidence).
gene: SDHB was added gene: SDHB was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 22972948 Phenotypes for gene: SDHB were set to No OMIM phenotype