SDHD

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green SDHD in Incidentalome


Version 1.0

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 1.0

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 2.0

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 2.0

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

Green SDHD in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

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

Green SDHD in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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 1.0

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

Red SDHD in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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 1.0

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 Pituitary Tumour


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Pituitary tumor, MONDO:0017611
  • Pituitary gland adenoma, MONDO:0006373
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 1, MIM#168000

Green SDHD in Paraganglioma_phaeochromocytoma


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Paragangliomas 1, MONDO:0008192
  • Pheochromocytoma, MONDO:0008233
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 1, MIM#168000

Green SDHD in Kidney Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 1, MIM#168000

Green SDHD in Gastrointestinal Stromal Tumour


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, MONDO:0011719
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 1, MIM#168000