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| Likely inborn error of metabolism - targeted testing not possible v1.261 | ADSL | Sarah Leigh Classified gene: ADSL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.261 | ADSL | Sarah Leigh Gene: adsl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.260 | ADSL | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.255 | ADSL | Sarah Leigh commented on gene: ADSL: 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 confirmed Gen2Phen gene. At least 8 variants reported associated with adenylosuccinase deficiency in at least 10 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.254 | ADSL | Sarah Leigh reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 18830228, 12016589, 10090474; Phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ADSL |
Ivone Leong Source NHS GMS was added to ADSL. Source London North GLH was added to ADSL. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ADSL |
Ellen McDonagh gene: ADSL was added gene: ADSL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 27604308 Phenotypes for gene: ADSL were set to Intellectual disability; Epileptic encephalopathy; Adenylosuccinate lyase deficiency (Disorders of purine metabolism) |
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