Inherited renal cancer
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Gastrointestinal stromal tumor (MIM# 6067640; Paraganglioma and gastric stromal sarcoma (MIM# 606864); Pheochromocytoma (MIM# 171300)Created: 8 Mar 2021, 1:42 p.m. | Last Modified: 8 Mar 2021, 1:42 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, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Lara Hawkes (Genomics England)
Rachel Robinson (Leeds Genetics Laboratory)
Sources: UKGTNCreated: 28 Dec 2018, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma.
Publications
- PMID: 27899189
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:15 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert List
- Phenotypes
-
- Paragangliomas 4, OMIM:115310
- Pheochromocytoma, OMIM:171300
- Paraganglioma and gastric stromal sarcoma, OMIM:606864
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Complete
- Publications
- 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
- 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
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHB were changed from Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHB were changed from Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma. to Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: SDHB were set to PMID: 27899189
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhb has been classified as Green List (High Evidence).
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to SDHB. Rating Changed from No List (delete) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rachel Robinson (Leeds Genetics Laboratory)gene: SDHB was added gene: SDHB was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHB were set to PMID: 27899189 Phenotypes for gene: SDHB were set to Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma. Penetrance for gene: SDHB were set to Complete Review for gene: SDHB was set to GREEN gene: SDHB was marked as current diagnostic