Multiple endocrine tumours
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
5 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Variants in this GENE are reported as part of current diagnostic practice
Treena Cranston (Oxford)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Indicated by 3 reviewers.Created: 1 Feb 2016, 12:42 p.m.
Comment on list classification: All four reviewers agree this should be green.Created: 1 Feb 2016, 12:39 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Likely inborn error of metabolism
- Inherited white matter disorders
- Genodermatoses with malignancies
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours
- Adult solid tumours for rare disease
- Mitochondrial disorders
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHD was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene SDHD was set to Unknown
Added New Source
Eik Haraldsdottir (Genomics England)SDHD was added to Multiple endocrine tumourspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)SDHD was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen