1. Genes and Genomic Entities
  2. SDHD

SDHD

succinate dehydrogenase complex subunit D
OMIM: 602690, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red SDHD in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

review Unknown
Sources
  • Literature
Phenotypes
  • Cowden syndrome 3 615106
Red SDHD in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.11

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
Green SDHD in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroendocrine cancer
Green SDHD in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Red SDHD in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex II deficiency
    Red SDHD in Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paragangliomas 1, with or without deafness, 168000
    • Pheochromocytoma, 171300
    • Carcinoid tumors, intestinal, 114900
    • Merkel cell carcinoma, somatic
    • Paraganglioma and gastric stromal sarcoma, 606864
    • Cowden syndrome 3, 615106
    Amber SDHD in Inherited renal cancer


    Level 2: Inherited cancer
    Version 1.28
    Latest signed off version: v1.2 (4 Mar 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    Phenotypes
    • Renal cell carcinoma (disease), MONDO:0005086
    Green SDHD in Inherited predisposition to GIST


    Level 2: Inherited cancer
    Version 1.15
    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
    • Paraganglioma and gastric stromal sarcoma, OMIM:606864
    • Carney-Stratakis syndrome, MONDO:0011740
    Green SDHD in Multiple endocrine tumours

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.15

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine Cancer
    • Paragangliomas 1, with or without deafness, 168000
    • Pheochromocytoma, 171300
    • Carcinoid tumors, intestinal, 114900
    • Merkel cell carcinoma, somatic
    • Paraganglioma and gastric stromal sarcoma, 606864
    • Cowden syndrome 3, 615106
    Green SDHD in Inherited phaeochromocytoma and paraganglioma

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.12

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
    • Hereditary Paraganglioma-Pheochromocytoma Syndrome
    Green SDHD in Inherited phaeochromocytoma and paraganglioma excluding NF1


    Level 2: Endocrinology
    Version 3.10
    Latest signed off version: v3.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndrome
    • Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
    Red SDHD in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Mitochondrial complex II deficiency 252011
    Amber SDHD in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.26

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert List
    Green SDHD in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.35
    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
    Green SDHD in Mitochondrial disorder with complex II deficiency


    Level 2: Mitochondrial
    Version 2.11
    Latest signed off version: v2.2 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011
    Green SDHD in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		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)
    • Mitochondrial Diseases
    • Isolated complex II deficiency
    Green SDHD in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Mitochondrial Diseases
    • Isolated complex II deficiency
    Green SDHD in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011
    Red SDHD in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167
    Red SDHD in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paragangliomas 1, with or without deafness, 168000
    Green SDHD in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Expert
    • Emory Genetics Laboratory
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency 252011
    Amber SDHD in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    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
    Amber SDHD in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011
    Red SDHD in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

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