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| Likely inborn error of metabolism - targeted testing not possible v1.265 | PSPH | Ivone Leong commented on gene: PSPH: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.262 | PSPH | Ivone Leong reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 9222972, 25080166; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.253 | PSPH | Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.253 | PSPH | Sarah Leigh Phenotypes for gene: PSPH were changed from Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PSPH |
Ivone Leong Source NHS GMS was added to PSPH. Source London North GLH was added to PSPH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PSPH |
Ellen McDonagh gene: PSPH was added gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 27604308; 24816252 Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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