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Genetic epilepsy syndromes

Gene: PSPH

Amber List (moderate evidence)

PSPH (phosphoserine phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 8 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)

PMID 25080166 reports a consanguinous family with 7 individuals with developmental delay and all developed tonic-clonic or petit mal seizures.
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
Phosphoserine phosphatase deficiency, 614023

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Kept as Amber due to expert review.
Created: 11 Dec 2018, 2:46 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Seizures are reported as part of the phenotype of this metabolic disorder; however, low number of reported cases (unless we consider Neu-Laxova as part of the spectrum), and one of the cases had Williams syndrome as well, making the clinical picture more complex.
Created: 20 Aug 2018, 1:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine phosphatase deficiency, MIM#614023

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
Tags
watchlist
OMIM
172480
Clinvar variants
Variants in PSPH
Penetrance
None
Publications
Panels with this gene

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 PSPH.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PSPH.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are reported as part

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Dec 2018, Gel status: 2

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist tag was added to gene: PSPH.

11 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency 614023

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PSPH were set to

11 Dec 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PSPH was created by Sarah Leigh