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This Panel is marked as Internal

Newborns main panel
Gene: ACAT1

ACAT1 (acetyl-CoA acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000075239
EnsemblGeneIds (GRCh37): ENSG00000075239
OMIM: 607809, Gene2Phenotype
ACAT1 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 30393371 - references 135 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Alpha-methylacetoacetic aciduria

OMIM

Clinvar variants

Variants in ACAT1

Penetrance

None

Panels with this gene

History Filter Activity

17 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ACAT1. Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ACAT1. Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: ACAT1 was added gene: ACAT1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria