Sarcoma cancer susceptibility
Gene: SDHD
SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert List
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
History Filter Activity
13 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SDHD was added gene: SDHD was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown