| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.315 | PSPH | Bryony Thompson Marked gene: PSPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.315 | PSPH | Bryony Thompson Gene: psph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.315 | PSPH | Bryony Thompson Classified gene: PSPH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.315 | PSPH | Bryony Thompson Gene: psph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.314 | PSPH |
Bryony Thompson 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 Added comment: 9 cases in 4 families reported with biallelic variants Sources: NHS GMS |
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