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  3. ACY1
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive on 25/09/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004051

Reported in >5 unrelated individuals with biochemically abnormal organic aciduria.
LoF appears to be the mechanism of disease but no functional studies conducted at this stage.
Sources: ClinGen
Created: 22 May 2024, 1:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
aminoacylase 1 deficiency MONDO:0012368

Publications

Created: 22 May 2024, 1:01 a.m.

Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • aminoacylase 1 deficiency MONDO:0012368
OMIM
104620
Clinvar variants
Variants in ACY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2024, 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).

24 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396

24 May 2024, 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).

22 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ACY1 was added gene: ACY1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396 Phenotypes for gene: ACY1 were set to aminoacylase 1 deficiency MONDO:0012368 Review for gene: ACY1 was set to GREEN