Inherited renal cancer
Gene: SDHBComment 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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal
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
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
Publications for gene: SDHB were set to PMID: 27899189
Gene: sdhb has been classified as Green List (High Evidence).
Source Expert List was added to SDHB. Rating Changed from No List (delete) to Red List (low evidence)
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