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Prepair 1000+

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

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Variable severity and age of onset - lethal multiple congenital anomaly disease at the severe end to a childhood disease with intellectual disability at the mild end, with infantile growth deficiency, and severe neurological manifestations as an intermediate phenotype.

HGNC approved symbol/name: PSPH
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, however degree of improvement with supplementation is uncertain (PMID: 16763900)
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 5:41 a.m. | Last Modified: 3 Mar 2025, 5:41 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphoserine phosphatase deficiency , MIM# 614023

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Phosphoserine phosphatase deficiency, 614023 (3)
OMIM
172480
Clinvar variants
Variants in PSPH
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSPH was added gene: PSPH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)