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| Mitochondrial disorders v2.54 | ACAT2 | Arina Puzriakova Phenotypes for gene: ACAT2 were changed from Increased serum lactate and pyruvate; high levels of ketones to ?ACAT2 deficiency, OMIM:614055; Increased serum lactate and pyruvate; High levels of ketones; Low levels of cytosolic acetoacetyl-CoA thiolase; Hypotonia; Severe developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.53 | ACAT2 | Arina Puzriakova Mode of inheritance for gene: ACAT2 was changed from Other to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.52 | ACAT2 | Arina Puzriakova Classified gene: ACAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.52 | ACAT2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Andžela Lazdāne. Currently associated with a provisional phenotype in OMIM (?ACAT2 deficiency, OMIM:614055) and not yet listed in G2P. In the 2 cases reported to date (PMIDs: 20597, 6150136), diagnoses were made based on molecular rather than genetic findings. Rating Red as at present there is no published evidence of deleterious variants in the ACAT2 gene leading to this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.52 | ACAT2 | Arina Puzriakova Gene: acat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 | Andžela Lazdāne edited their review of gene: ACAT2: Changed rating: AMBER; Changed mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 | Andžela Lazdāne edited their review of gene: ACAT2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 |
Andžela Lazdāne changed review comment from: Cytosolic acetoacetyl-CoA thiolase deficiency. Inheritance - isolated cases. Based on literature the ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase, which is important in the utilization of ketone bodies. ACAT2 gene can cause disorders of ketone body metabolism. ACAT2 gene is included in international classification of inherited metabolic disorders (ICIMD).; to: Cytosolic acetoacetyl-CoA thiolase deficiency. Inheritance - isolated cases. Based on literature the ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase, which is important in the utilization of ketone bodies. ACAT2 gene can cause disorders of ketone body metabolism. ACAT2 gene is included in international classification of inherited metabolic disorders (ICIMD). |
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| Mitochondrial disorders v2.47 | ACAT2 | Andžela Lazdāne reviewed gene: ACAT2: Rating: ; Mode of pathogenicity: None; Publications: PMID:33340416, PMID:20597, PMID:6150136; Phenotypes: Increased serum lactate and pyruvate, High levels of ketones, Low levels of cytosolic acetoacetyl-CoA thiolase, Hypotonia, Severe developmental delay; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 | Andžela Lazdāne Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 | Andžela Lazdāne Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | ACAT2 |
Andžela Lazdāne gene: ACAT2 was added gene: ACAT2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: ACAT2 was set to Other Publications for gene: ACAT2 were set to 33340416; 20597; 6150136 Phenotypes for gene: ACAT2 were set to Increased serum lactate and pyruvate; high levels of ketones Review for gene: ACAT2 was set to GREEN Added comment: Cytosolic acetoacetyl-CoA thiolase deficiency Inheritance - isolated cases Sources: Literature |
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