Miscellaneous Metabolic Disorders
Gene: PSPHEnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
9 cases in 4 families reported with biallelic variants
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psph has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psph has been classified as Green List (High Evidence).
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