Inherited renal cancer
Gene: SDHDAs discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 1 Feb 2019, 9:46 a.m. | Last Modified: 31 Jul 2019, 12:57 p.m.
Panel Version: 0.38
SDHD linked pedigrees exhibit a clear parent-of-origin effect: inheritance of paraganglioma commonly occurs in an autosomal dominant way only when paternally transmitted. There are a few reports of SDHD-related disease with maternal transmission. The SDHD gene is not imprinted, SDHD-linked tumours arise upon paternal transmission of the mutation on selective loss of the entire maternal chromosome 11 (PMID: 15064708).
Sources: UKGTNCreated: 28 Dec 2018, 10:53 a.m.
Mode of inheritance
Other
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086
Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SDHD were set to 27899189
Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508
Publications for gene: SDHD were set to PMID: 27899189
Gene: sdhd has been classified as Amber List (Moderate Evidence).
Gene: sdhd has been classified as Amber List (Moderate Evidence).
Gene: sdhd has been classified as Green List (High Evidence).
gene: SDHD was added gene: SDHD was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: SDHD was set to Other Publications for gene: SDHD were set to PMID: 27899189 Penetrance for gene: SDHD were set to Complete Review for gene: SDHD was set to GREEN gene: SDHD was marked as current diagnostic