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Molecular autopsy

Gene: SDHC

Amber List (moderate evidence)
SDHC (succinate dehydrogenase complex subunit C)
EnsemblGeneIds (GRCh38): ENSG00000143252
EnsemblGeneIds (GRCh37): ENSG00000143252
OMIM: 602413, Gene2Phenotype
SDHC is in 16 panels

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History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHC

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency; Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Multiple Tumours for gene: SDHC

20 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SDHC was added gene: SDHC was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHC were set to 27604308 Phenotypes for gene: SDHC were set to Mitochondrial Diseases; Isolated complex II deficiency; Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Multiple Tumours