ACAT1

acetyl-CoA acetyltransferase 1
OMIM: 607809, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ACAT1 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 1.2655	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 0.975 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 1.174	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 0.109	review	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 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria
Red ACAT1 in Fetal anomalies Version 1.370	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 2.13	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 1.135 Component of the following Super Panels: Metabolic Disorders Superpanel	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 1.121	review	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 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750