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| Miscellaneous Metabolic Disorders v0.30 | ACY1 | Bryony Thompson Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.17 | ACY1 | Bryony Thompson Marked gene: ACY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.17 | ACY1 | Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.17 | ACY1 | Bryony Thompson Classified gene: ACY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.17 | ACY1 | Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.16 | ACY1 |
Bryony Thompson gene: ACY1 was added gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 16465618; 17562838; 24117009 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924 Review for gene: ACY1 was set to GREEN gene: ACY1 was marked as current diagnostic Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. Sources: NHS GMS |
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