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| Likely inborn error of metabolism - targeted testing not possible v1.259 | ACY1 | Sarah Leigh Classified gene: ACY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.259 | ACY1 | Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.258 | ACY1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.255 | ACY1 | Sarah Leigh commented on gene: ACY1: 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 7 variants reported in at least 9 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.254 | ACY1 | Sarah Leigh reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 24117009, 17562838, 16465618; Phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ACY1 |
Ivone Leong Source NHS GMS was added to ACY1. Source London North GLH was added to ACY1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ACY1 |
Ellen McDonagh gene: ACY1 was added gene: ACY1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 27604308 Phenotypes for gene: ACY1 were set to Intellectual disability; Aminoacylase 1 deficiency (Organic acidurias) |
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