White matter disorders and cerebral calcification - narrow panel
Gene: SDHD
SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex II deficiency
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Genodermatoses with malignancies
- Childhood solid tumours
- Monogenic hearing loss
- Adult solid tumours for rare disease
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma susceptibility
- Mitochondrial disorders
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SDHD was added gene: SDHD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency