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 phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
- Multiple endocrine tumours
- Childhood solid tumours
- Mitochondrial disorders
- Inherited non-medullary thyroid cancer
- Likely inborn error of metabolism
- Neuroendocrine cancer pertinent cancer susceptibility
- Fetal anomalies
- Inherited renal cancer
- Inherited predisposition to GIST
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Sarcoma cancer susceptibility
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
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