Inherited predisposition to GIST
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Mitochondrial complex II deficiency, nuclear type 3 (MIM# 619167); Paragangliomas 1, with or without deafness (MIM# 168000); Pheochromocytoma (MIM# 171300)Created: 8 Mar 2021, 12:25 p.m. | Last Modified: 8 Mar 2021, 12:25 p.m.
Panel Version: 1.10
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21
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 Green
- NHS GMS
- 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
-
- 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
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
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SDHD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SDHD was added gene: SDHD was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: SDHD was set to