Likely inborn error of metabolism - targeted testing not possible
Gene: PDSS1Comment on list classification: Two unrelated families/cases reported, but known to encode protein with role in CoQ10 synthesis pathway. It is a probable DD gene for Coenzyme Q10 deficiency, primary, 2, and expert reviewer suggests it should be green.Created: 22 Apr 2016, 9:34 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 1:43 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for Coenzyme Q10 deficiency, primary, 2.
Created: 2 Mar 2016, 1:42 p.m.
Source NHS GMS was added to PDSS1. Source London North GLH was added to PDSS1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS1 Publications for gene PDSS1 were changed from PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency to 27604308
gene: PDSS1 was added gene: PDSS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of ubiquinone metabolism and biosynthesis