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| Likely inborn error of metabolism - targeted testing not possible v1.252 | PSAT1 | Sarah Leigh Classified gene: PSAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.252 | PSAT1 |
Sarah Leigh Added comment: Comment on list classification: 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. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038. At least 5 variants reported in 6 cases of Neu-Laxova syndrome 2 616038 and 2 variants in a case of ?Phosphoserine aminotransferase deficiency 610992. |
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| Likely inborn error of metabolism - targeted testing not possible v1.252 | PSAT1 | Sarah Leigh Gene: psat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.251 | PSAT1 | Sarah Leigh Publications for gene: PSAT1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.250 | PSAT1 | Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.250 | PSAT1 | Sarah Leigh Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PSAT1 |
Ivone Leong Source NHS GMS was added to PSAT1. Source London North GLH was added to PSAT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAT1 |
Ellen McDonagh gene: PSAT1 was added gene: PSAT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 27604308 Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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