Inborn errors of metabolismGene: SDHC
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
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
Neuro-endocrine Tumours- PCC and PGL
Source NHS GMS was added to SDHC. Source London North GLH was added to SDHC.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHC
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