1. Panels
  2. Mitochondrial disease
  3. ACAT1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

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)

Green List (high evidence)

DEFINITIVE by ClinGen. Biallelic variants have been identified in at least 7 families.
Created: 19 Dec 2021, 11:34 p.m. | Last Modified: 19 Dec 2021, 11:34 p.m.
Panel Version: 0.10306

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760

Created: 19 Dec 2021, 11:34 p.m.
Last Modified: 19 Dec 2021, 11:34 p.m.
Panel version: Imported from Mendeliome panel version 0.10306

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported.
Sources: NHS GMS, Literature
Created: 21 Mar 2020, 5:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacetoacetic aciduria MIM#203750

Publications

Created: 21 Mar 2020, 5:27 a.m.

Panel version: 0.246

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-methylacetoacetic aciduria MIM#203750
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.

30 Apr 2021, 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).

21 Mar 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).

21 Mar 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 Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 31268215; 25778941; 1715688 Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750 Review for gene: ACAT1 was set to GREEN