Aminoacidopathy
Gene: ACAT1EnsemblGeneIds (GRCh38): ENSG00000075239
EnsemblGeneIds (GRCh37): ENSG00000075239
OMIM: 607809, Gene2Phenotype
ACAT1 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- beta-ketothiolase deficiency MONDO:0008760
- Tags
- OMIM
- 607809
- Clinvar variants
- Variants in ACAT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ACAT1.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acat1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acat1 has been classified as Green List (High Evidence).
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 Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 29152456 Phenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760