Kidney Cancer
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 6:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Renal carcinoma, MONDO:0005206
- Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
- Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal Stromal Tumour
- Paraganglioma_phaeochromocytoma
- Incidentalome
- Additional findings_Adult
- Kidney Cancer
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Pituitary Tumour
- BabyScreen+ newborn screening
- Mitochondrial disease
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdhd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sdhd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SDHD was added gene: SDHD was added to Kidney Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHD were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000 Review for gene: SDHD was set to GREEN