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| Likely inborn error of metabolism - targeted testing not possible v1.181 | MOCS1 | Sarah Leigh Publications for gene: MOCS1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.180 | MOCS1 | Sarah Leigh Classified gene: MOCS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.180 | MOCS1 |
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 confirmed Gen2Phen gene. At least 5 variants reported unrelated cases. |
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| Likely inborn error of metabolism - targeted testing not possible v1.180 | MOCS1 | Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.179 | MOCS1 | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.179 | MOCS1 | Sarah Leigh Phenotypes for gene: MOCS1 were changed from Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency A 252150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | MOCS1 |
Ivone Leong Source NHS GMS was added to MOCS1. Source London North GLH was added to MOCS1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MOCS1 |
Ellen McDonagh gene: MOCS1 was added gene: MOCS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27604308 Phenotypes for gene: MOCS1 were set to Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) |
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