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Genetic epilepsy syndromes

Gene: PDSS2

Amber List (moderate evidence)

PDSS2 (decaprenyl diphosphate synthase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164494
EnsemblGeneIds (GRCh37): ENSG00000164494
OMIM: 610564, Gene2Phenotype
PDSS2 is in 15 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Insufficient evidence: phenotype reported either Leigh syndrome or a nephrotic syndrome, but very few variants in the literature to date.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency primary 3, 614652

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 1:16 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Seizures are part of the phenotype; however, I can only find 2 reported families in the literature.
Created: 18 Aug 2018, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 3, MIM#614652

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PDSS2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PDSS2.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pdss2 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PDSS2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PDSS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PDSS2 was created by Sarah Leigh