Likely inborn error of metabolism - targeted testing not possible
Gene: SDHBComment 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.
Phenotypes for gene: SDHB were changed from Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864 to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Source: Expert Review Amber was removed from gene: SDHB
Source NHS GMS was added to SDHB. Source London North GLH was added to SDHB.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB Publications for gene SDHB were changed from 27604308 to PMID: 26925370; 22972948
gene: SDHB was added gene: SDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 27604308 Phenotypes for gene: SDHB were set to Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864