Inherited phaeochromocytoma and paraganglioma

Gene: SDHD

Green List (high evidence)

SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 25 panels

4 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Katie Snape (South London GMC)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: All 3 reviewers agreed on this imprinting status in the Multiple Endocrine tumours panel.
Created: 6 Feb 2016, 5:46 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

Widely reported and UKGTN approved. Inheritance has a parent of origin effect rather than classic imprinting. Phenotype is usually paternally inherited although there are rare reports of maternal inheritance (PMID 21937622)
Created: 30 Sep 2015, 11:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
HNPGL,PCC,GIST,renal tumour

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
602690
Clinvar variants
Variants in SDHD
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SDHD was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen