Mitochondrial disorders
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.
Victorian Clinical Genetics Services was added to PDSS1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Publications for PDSS1 were set to PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency; 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).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PDSS1 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 2, 614651
Mode of inheritance for PDSS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
PDSS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PDSS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PDSS1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen