Genodermatoses with malignancies
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
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
-
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
- 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
History Filter Activity
27 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHD was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHD was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen