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Inborn errors of metabolism

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

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.
Created: 23 Sep 2019, 10:20 a.m. | Last Modified: 30 Oct 2019, 4:15 p.m.
Panel Version: 1.383

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuro-endocrine Tumours- PCC and PGL

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Amber
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
OMIM
602413
Clinvar variants
Variants in SDHC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SDHC. Source London North GLH was added to SDHC.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

16 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 Inborn errors of metabolism. 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 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours