Inherited renal cancer
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
2 reviews
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 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
Rachel Robinson (Leeds Genetics Laboratory)
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
- PMID: 27899189
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- 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
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SDHD were set to 27899189
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: SDHD were set to PMID: 27899189
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhd has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhd has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sdhd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Rachel Robinson (Leeds Genetics Laboratory)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