Inherited phaeochromocytoma and paraganglioma
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
4 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Not imprinted, as in the Multiple Endocrine tumours panel.Created: 6 Feb 2016, 5:45 p.m.
Treena Cranston (Oxford)
Widely published and UKGTN approved.Created: 30 Sep 2015, 10:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNPGL,PCC,GIST,renal tumour
Publications
- 26113606
- UKGTN
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Paragangliomas 4, OMIM:115310
- Pheochromocytoma, OMIM:171300
- Paraganglioma and gastric stromal sarcoma, OMIM:606864
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Genodermatoses with malignancies
- Mitochondrial disorders
- Childhood solid tumours
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHB were changed from Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SDHB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services