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  3. ACAT1
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Fatty Acid Oxidation Defects

Gene: ACAT1

Green List (high evidence)
ACAT1 (acetyl-CoA acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000075239
EnsemblGeneIds (GRCh37): ENSG00000075239
OMIM: 607809, Gene2Phenotype
ACAT1 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Definitive by ClinGen.
Created: 29 Jul 2020, 3:34 a.m. | Last Modified: 29 Jul 2020, 3:34 a.m.
Panel Version: 0.18
Created: 29 Jul 2020, 3:34 a.m.
Last Modified: 29 Jul 2020, 3:34 a.m.
Panel version: 0.18

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families.
Sources: Expert list
Created: 22 Apr 2020, 11:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase

Publications

Created: 22 Apr 2020, 11:56 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
  • Deficiency of acetyl-CoA acetyltransferase
  • Beta-ketothiolase deficiency MONDO:0008760
Tags
treatable
OMIM
607809
Clinvar variants
Variants in ACAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ACAT1.

20 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760

20 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acat1 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acat1 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACAT1 was added gene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 17236799; 1715688 Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase Review for gene: ACAT1 was set to GREEN