PanelApp (test)
  1. Genes and Genomic Entities
  2. SDHD:Ensemblv90

SDHD:Ensemblv90

succinate dehydrogenase complex subunit D
OMIM: 602690, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green SDHD in Incidentalome


Version 0.370

2 reviews MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 1, with or without deafness, MIM# 168000
  • Pheochromocytoma, MIM# 171300

Green SDHD in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 1, with or without deafness, MIM# 168000
  • Pheochromocytoma, MIM# 171300

Green SDHD in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1299

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167

    Green SDHD in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Paragangliomas 1, with or without deafness, MIM# 168000
    • Pheochromocytoma, MIM# 171300

    Red SDHD in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes
    • Paraganglioma and gastric stromal sarcoma

    Red SDHD in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes
    • Paraganglioma and gastric stromal sarcoma

    Red SDHD in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Paraganglioma and gastric stromal sarcoma
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes

    Green SDHD in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.208

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

    Green SDHD in Renal cancer


    Level 2: Cancer susceptibility
    Version 0.5

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Paragangliomas 1

    Green SDHD in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes

    Red SDHD in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology

    Red SDHD in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
    • Paragangliomas 1, with or without deafness, MIM# 168000

    Green SDHD in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Pheochromocytoma, MIM# 171300
    • Paragangliomas 1, with or without deafness, MIM# 168000

    Green SDHD in Incidentalome


    Version 1.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Paragangliomas 1, with or without deafness, MIM# 168000
    • Pheochromocytoma, MIM# 171300

    Green SDHD in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Paragangliomas 1, with or without deafness, MIM# 168000
    • Pheochromocytoma, MIM# 171300

    Green SDHD in Additional findings_Adult


    Level 2: Screening
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Paragangliomas 1, with or without deafness, MIM# 168000
    • Pheochromocytoma, MIM# 171300

    Green SDHD in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green SDHD in Renal cancer


    Level 2: Cancer susceptibility
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • SA Pathology
    • Expert Review Green
    Phenotypes
    • Paragangliomas 1

    Green SDHD in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndromes

    Green SDHD in Transplant Co-Morbidity


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Pheochromocytoma, MIM# 171300
    • Paragangliomas 1, with or without deafness, MIM# 168000