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Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Classified gene: ACY1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.256 ACY1 Sarah Leigh edited their review of gene: ACY1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 9 unrelated cases.; Changed rating: GREEN; Changed publications: 27604308, 24117009, 17562838, 16465618; Changed phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability
Undiagnosed metabolic disorders ACY1 Sarah Leigh commented on ACY1
Undiagnosed metabolic disorders ACY1 Sarah Leigh reviewed ACY1