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| Likely inborn error of metabolism - targeted testing not possible v2.75 | CPT1A | Eleanor Williams Source: Expert Review Red was removed from gene: CPT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CPT1A |
Ivone Leong Source NHS GMS was added to CPT1A. Source London North GLH was added to CPT1A. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 27604308 Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA |
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