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  2. Likely inborn error of metabolism
  3. ACAT2
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Likely inborn error of metabolism

Gene: ACAT2

Red List (low evidence)
ACAT2 (acetyl-CoA acetyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000120437
EnsemblGeneIds (GRCh37): ENSG00000120437
OMIM: 100678, Gene2Phenotype
ACAT2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Andžela Lazdāne. Currently associated with a provisional phenotype in OMIM (?ACAT2 deficiency, OMIM:614055) and not yet listed in G2P. In the 2 cases reported to date (PMIDs: 20597, 6150136), diagnoses were made based on molecular rather than genetic findings. Rating Red as at present there is no published evidence of deleterious variants in the ACAT2 gene leading to this phenotype.
Created: 30 Sep 2021, 3:50 p.m. | Last Modified: 30 Sep 2021, 3:50 p.m.
Panel Version: 2.181
Created: 30 Sep 2021, 3:50 p.m.
Last Modified: 30 Sep 2021, 3:50 p.m.
Panel version: 2.181

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

I don't know

Acetoacetyl-CoA thiolase deficiency.
IEM Nosology Group:Disorders of ketone body metabolism
The ACAT2 gene is included in international classification of inherited metabolic disorders (ICIMD).
Created: 21 Jul 2021, 11:55 a.m. | Last Modified: 21 Jul 2021, 11:55 a.m.
Panel Version: 2.154

Phenotypes
Developmental delay

Publications

Created: 21 Jul 2021, 11:55 a.m.
Last Modified: 21 Jul 2021, 11:55 a.m.
Panel version: 2.154

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?ACAT2 deficiency, OMIM:614055
  • Increased serum lactate and pyruvate
  • High levels of ketones
  • Low levels of cytosolic acetoacetyl-CoA thiolase
  • Hypotonia
  • Severe developmental delay
OMIM
100678
Clinvar variants
Variants in ACAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACAT2 were set to PMID:33340416

30 Sep 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ACAT2 were changed from Developmental delay to ?ACAT2 deficiency, OMIM:614055; Increased serum lactate and pyruvate; High levels of ketones; Low levels of cytosolic acetoacetyl-CoA thiolase; Hypotonia; Severe developmental delay

30 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: acat2 has been classified as Red List (Low Evidence).

21 Jul 2021, Gel status: 0

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

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: ACAT2 was added gene: ACAT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: ACAT2 was set to Unknown Publications for gene: ACAT2 were set to PMID:33340416 Phenotypes for gene: ACAT2 were set to Developmental delay Review for gene: ACAT2 was set to AMBER