SDHB

succinate dehydrogenase complex iron sulfur subunit B
OMIM: 185470, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red SDHB in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cowden syndrome 2 612359

Red SDHB in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.6

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 4, 115310
  • Pheochromocytoma, 171300
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 2, 612359
  • Gastrointestinal stromal tumor, 606764

Green SDHB in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroendocrine cancer

Green SDHB in Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cancer

Green SDHB in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma

Green SDHB in White matter disorders and cerebral calcification - narrow panel


Version 1.72
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Succinate dehydrogenase-deficient leukoencephalopathy
    • complex II deficiency
    • Mitochondrial Leukoencephalopathy

    Red SDHB in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Latest signed off version: v2.5 (4 Mar 2020)

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paragangliomas 4, 115310
    • Pheochromocytoma, 171300
    • Paraganglioma and gastric stromal sarcoma, 606864
    • Cowden syndrome 2, 612359
    • Gastrointestinal stromal tumor, 606764

    Green SDHB in Inherited renal cancer


    Version 1.21
    Latest signed off version: v1.2 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    • UKGTN
    Phenotypes
    • Paragangliomas 4, OMIM:115310
    • Renal cell carcinoma (disease), MONDO:0005086

    Green SDHB in Inherited predisposition to GIST


    Version 1.11
    Latest signed off version: v1.2 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List
    Phenotypes
    • Gastrointestinal stromal tumor, OMIM:606764
    • Paraganglioma and gastric stromal sarcoma, OMIM:606864
    • Carney-Stratakis syndrome, MONDO:0011740

    Green SDHB in Multiple endocrine tumours

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.9

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine Cancer
    • familial paraganglioma

    Green SDHB in Inherited phaeochromocytoma and paraganglioma

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Paraganglioma and Gastric Stromal Sarcoma
    • Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764

    Green SDHB in Inherited phaeochromocytoma and paraganglioma excluding NF1


    Version 1.15
    Latest signed off version: v1.4 (11 Nov 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Paraganglioma and Gastric Stromal Sarcoma
    • Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764

    Green SDHB in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.94

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Succinate dehydrogenase-deficient leukoencephalopathy
    • complex II deficiency

    Amber SDHB in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert List

    Green SDHB in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Latest signed off version: v2.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Familial Paraganglioma and Pheochromocytoma

    Amber SDHB in Mitochondrial disorder with complex II deficiency


    Version 1.3
    Latest signed off version: v1.2 (17 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype

    Green SDHB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.457

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Isolated complex II deficiency
    • Paragangliomas 4, 115310
    • Pheochromocytoma, 171300
    • Paraganglioma and gastric stromal sarcoma, 606864
    • Gastrointestinal stromal tumor, 606764
    • Mitochondrial Diseases

    Green SDHB in Inborn errors of metabolism


    Version 2.131
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 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

    Amber SDHB in Possible mitochondrial disorder - nuclear genes


    Version 1.41
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype

    Amber SDHB in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.34
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • 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

    Amber SDHB in Sarcoma susceptibility


    Version 1.69
    Latest signed off version: v1.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert Review Amber
    • Expert List
    Phenotypes
    • Paraganglioma and gastric stromal sarcoma, OMIM:606864
    • Carney-Stratakis syndrome, MONDO:0011740

    Red SDHB in Childhood onset dystonia or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SDHB in Severe Paediatric Disorders


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paraganglioma and gastric stromal sarcoma, 606864
    • Gastrointestinal stromal tumor, 606764
    • Paragangliomas 4, 115310
    • Pheochromocytoma, 171300