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| Likely inborn error of metabolism - targeted testing not possible v2.183 | ACAT2 | Arina Puzriakova Publications for gene: ACAT2 were set to PMID:33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.182 | ACAT2 | Arina Puzriakova Phenotypes for gene: ACAT2 were changed from Developmental delay 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.181 | ACAT2 | Arina Puzriakova Classified gene: ACAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.181 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.181 | ACAT2 | Arina Puzriakova Gene: acat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 | Andžela Lazdāne reviewed gene: ACAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:33340416; Phenotypes: Developmental delay; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 | Andžela Lazdāne Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 |
Andžela Lazdāne commented on gene: ACAT2: ACAT2 gene is included in international classification of inherited metabolic disorders (ICIMD). |
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| Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 |
Andžela Lazdāne changed review comment from: Acetoacetyl-CoA thiolase deficiency (cytosolic) IEM Nosology Group:Disorders of ketone body metabolism Sources: Literature; to: Acetoacetyl-CoA thiolase deficiency (cytosolic) IEM Nosology Group:Disorders of ketone body metabolism Sources: Literature |
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| Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 |
Andžela Lazdāne gene: ACAT2 was added gene: ACAT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: ACAT2 was set to Unknown Publications for gene: ACAT2 were set to PMID:33340416 Phenotypes for gene: ACAT2 were set to Developmental delay Review for gene: ACAT2 was set to AMBER Added comment: Acetoacetyl-CoA thiolase deficiency (cytosolic) IEM Nosology Group:Disorders of ketone body metabolism Sources: Literature |
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