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  3. ACY1
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TEST Undiagnosed metabolic disorders

Gene: ACY1

Amber List (moderate evidence)
ACY1 (aminoacylase 1)
EnsemblGeneIds (GRCh38): ENSG00000243989
EnsemblGeneIds (GRCh37): ENSG00000243989
OMIM: 104620, Gene2Phenotype
ACY1 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
OMIM
104620
Clinvar variants
Variants in ACY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: ACY1 was added gene: ACY1 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 27604308