Sarcoma susceptibility
Gene: SDHDEnsemblGeneIds (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
-
- NHS GMS
- Expert Review Amber
- Expert Review Amber
- Expert List
- Phenotypes
-
- Paraganglioma and gastric stromal sarcoma, OMIM:606864
- Carney-Stratakis syndrome, MONDO:0011740
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- None
- Panels with this gene
-
- Inherited non-medullary thyroid cancer
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
- White matter disorders and cerebral calcification - narrow panel
- Inherited predisposition to GIST
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Mitochondrial disorders
- Genodermatoses with malignancies
- Monogenic hearing loss
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Paediatric or syndromic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SDHD.
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: SDHD was added gene: SDHD was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown