Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 11 Mar 2019, 1:23 p.m.
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
- NHS GMS
- Phenotypes
-
- Paragangliomas 4, OMIM:115310
- Pheochromocytoma, OMIM:171300
- Paraganglioma and gastric stromal sarcoma, OMIM:606864
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- None
- Panels with this gene
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- 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
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SDHB was added gene: SDHB was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764