Aminoacidopathy
Gene: PSPHEnsemblGeneIds (GRCh38): ENSG00000146733
EnsemblGeneIds (GRCh37): ENSG00000146733
OMIM: 172480, Gene2Phenotype
PSPH is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: ClinGenCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psph has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psph has been classified as Green List (High Evidence).
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