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| Likely inborn error of metabolism - targeted testing not possible v2.72 | ACAT1 | Eleanor Williams Source: Expert Review Red was removed from gene: ACAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAT1 |
Ivone Leong Source NHS GMS was added to ACAT1. Source London North GLH was added to ACAT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAT1 |
Ellen McDonagh gene: ACAT1 was added gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 27604308 Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias) |
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