SDHD

succinate dehydrogenase complex subunit D
OMIM: 602690, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red SDHD in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4

review Unknown
Sources
  • Literature
Phenotypes
  • Cowden syndrome 3 615106

Red SDHD 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 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 1.0

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 1.22

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


Version 1.11

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex II deficiency

    Red SDHD in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.3
    Signed off v.2.2 on 18 Feb 2020

    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


    Version 1.1
    Signed off v.1.0 on 15 Oct 2019

    review Other
    Sources
    • Expert Review Amber
    • UKGTN

    Green SDHD in Inherited predisposition to GIST


    Version 1.1
    Signed off v.1.0 on 16 Aug 2019

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List

    Green SDHD in Multiple endocrine tumours

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

    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 1.5

    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


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    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 1.71

    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 1.15

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

    Green SDHD in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    Signed off v.2.2 on 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


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    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 1.413

    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 Inborn errors of metabolism


    Version 2.4
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

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

    Red SDHD in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.6
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Paragangliomas 1, with or without deafness, 168000

    Green SDHD in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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


    Version 1.3
    Signed off v.1.2 on 18 Feb 2020

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

    Green SDHD in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011

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


    Version 1.1
    Signed off v.1.0 on 12 Dec 2019

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