| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.76 | PSPH | Zornitza Stark Marked gene: PSPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.76 | PSPH | Zornitza Stark Gene: psph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.76 | PSPH | Zornitza Stark Classified gene: PSPH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.76 | PSPH | Zornitza Stark Gene: psph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | PSPH |
Sangavi Sivagnanasundram 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 Added comment: 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 |
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