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Inborn errors of metabolism

Gene: ACY1

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.
Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:02 p.m.
Panel Version: 1.255

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aminoacylase 1 deficiency 609924; Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Aminoacylase 1 deficiency (Organic acidurias)
OMIM
104620
Clinvar variants
Variants in ACY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACY1. Source London North GLH was added to ACY1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

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)