Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene disease assocation. Reported in >5 unrelated individuals with biochemical phenotypes.
Classified as Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005917
Sources: ClinGen
Created: 9 Jul 2024, 3:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurometabolic disorder due to serine deficiency MONDO:0018162

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • neurometabolic disorder due to serine deficiency MONDO:0018162
OMIM
172480
Clinvar variants
Variants in PSPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PSPH was added gene: PSPH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 26589312, 25080166, 14673469; 27604308; 26888760; 25152457 Phenotypes for gene: PSPH were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PSPH was set to GREEN