| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inherited renal cancer v1.21 | SDHD | Arina Puzriakova Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.19 | SDHD | Arina Puzriakova Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.18 | SDHD | Arina Puzriakova Publications for gene: SDHD were set to 27899189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.17 | SDHD | Arina Puzriakova Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.48 | SDHD | Rebecca Foulger Publications for gene: SDHD were set to PMID: 27899189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | SDHD | Ivone Leong changed review comment from: Comment on list classification: As 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.; to: As 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.32 | SDHD | Ivone Leong Classified gene: SDHD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.32 | SDHD | Ivone Leong Added comment: Comment on list classification: As 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.32 | SDHD | Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.28 | SDHD | Ivone Leong Classified gene: SDHD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.28 | SDHD | Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.17 | SDHD | Ivone Leong Classified gene: SDHD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.17 | SDHD | Ivone Leong Gene: sdhd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.1 | SDHD |
Rachel Robinson 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 Added comment: 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: UKGTN |
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