Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: ACY1

Green List (high evidence)

ACY1 (aminoacylase 1)
EnsemblGeneIds (GRCh38): ENSG00000243989
EnsemblGeneIds (GRCh37): ENSG00000243989
OMIM: 104620, Gene2Phenotype
ACY1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 28 Oct 2021, 8:22 a.m. | Last Modified: 28 Oct 2021, 8:22 a.m.
Panel Version: 0.4223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aminoacylase 1 deficiency, MIM# 609924

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Aminoacylase 1 deficiency, MIM# 609924
OMIM
104620
Clinvar variants
Variants in ACY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acy1 has been classified as Green List (High Evidence).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACY1 were set to

28 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACY1 was added gene: ACY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACY1 was set to Unknown