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| Fatty Acid Oxidation Defects v1.8 | ACAT1 | Zornitza Stark Tag treatable tag was added to gene: ACAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.7 | ACAT1 | Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.6 | ACAT1 | Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.5 | ACAT1 | Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.5 | ACAT1 | Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Marked gene: ACAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Added comment: Comment when marking as ready: Definitive by ClinGen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.4 | ACAT1 | Bryony Thompson Classified gene: ACAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.4 | ACAT1 | Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.3 | ACAT1 |
Bryony Thompson gene: ACAT1 was added gene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 17236799; 1715688 Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase Review for gene: ACAT1 was set to GREEN Added comment: Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families. Sources: Expert list |
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