Possible mitochondrial disorder - nuclear genes
Gene: PDSS1
PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 2, 614651
Publications
Ellen McDonagh (Genomics England Curator)
Comment 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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 2, 614651
- OMIM
- 607429
- Clinvar variants
- Variants in PDSS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Optic neuropathy
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PDSS1 was added gene: PDSS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 22494076 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651