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Intellectual disability

Gene: PDSS1

Green List (high evidence)

PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 8 panels

2 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COENZYME Q10 DEFICIENCY, PRIMARY, 2

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, 614651
  • COENZYME Q10 DEFICIENCY, PRIMARY, 2
OMIM
607429
Clinvar variants
Variants in PDSS1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PDSS1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PDSS1 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDSS1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen