ACAT1

acetyl-CoA acetyltransferase 1
OMIM: 607809, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ACAT1 in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 2.0

2 reviews 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

Green ACAT1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
  • Beta-ketothiolase deficiency MONDO:0008760
Tags
  • treatable

Green ACAT1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

2 reviews 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

Amber ACAT1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM# 203750

Green ACAT1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alpha-methylacetoacetic aciduria, 203750 (3)

Green ACAT1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alpha-methylacetoacetic aciduria

Red ACAT1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM# 203750

Green ACAT1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750

Green ACAT1 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • beta-ketothiolase deficiency MONDO:0008760
Tags
  • treatable

Green ACAT1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
Tags
  • treatable
  • metabolic

Green ACAT1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
  • Mackenzie's Mission
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750