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  2. Likely inborn error of metabolism
  3. PSPH
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Likely inborn error of metabolism

Gene: PSPH

Amber List (moderate evidence)
PSPH (phosphoserine phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 19 Sep 2019, 2:29 p.m. | Last Modified: 19 Sep 2019, 2:29 p.m.
Panel Version: 1.265
There are currently only 2 unrelated cases of Phosphoserine Phosphatase Deficiency caused by variants in PSPH. Therefore, there is currently not enough evidence to promote this gene to Green status.
Created: 13 Sep 2019, 1:54 p.m. | Last Modified: 13 Sep 2019, 1:54 p.m.
Panel Version: 1.262

Publications

Created: 13 Sep 2019, 1:54 p.m.
Last Modified: 13 Sep 2019, 1:54 p.m.
Panel version: 1.265

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
Created: 22 Aug 2019, 2:53 p.m. | Last Modified: 22 Aug 2019, 2:53 p.m.
Panel Version: 1.253
Created: 22 Aug 2019, 2:53 p.m.
Last Modified: 22 Aug 2019, 2:53 p.m.
Panel version: 1.253

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
OMIM
172480
Clinvar variants
Variants in PSPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PSPH were changed from Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PSPH. Source London North GLH was added to PSPH.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PSPH was added gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 27604308; 24816252 Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia