Paraganglioma_phaeochromocytoma
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 9:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paragangliomas 4, MONDO:0007273; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Paragangliomas 4, MONDO:0007273
- Pheochromocytoma, MONDO:0008233
- Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
- Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal Stromal Tumour
- Paraganglioma_phaeochromocytoma
- Incidentalome
- Additional findings_Adult
- Leukodystrophy - paediatric
- Kidney Cancer
- Additional findings_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: sdhb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sdhb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SDHB was added gene: SDHB was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Paragangliomas 4, MONDO:0007273; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310 Review for gene: SDHB was set to GREEN