Miscellaneous Metabolic Disorders

Gene: PSPH

Green List (high evidence)

PSPH (phosphoserine phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

9 cases in 4 families reported with biallelic variants
Sources: NHS GMS
Created: 8 Feb 2021, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Phosphoserine phosphatase deficiency MIM#614023
  • Disorders of serine, glycine or glycerate metabolism
OMIM
172480
Clinvar variants
Variants in PSPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psph has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psph has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PSPH was added gene: PSPH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 14673469; 25080166; 27604308; 26888760; 25152457 Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism Review for gene: PSPH was set to GREEN