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| Likely inborn error of metabolism - targeted testing not possible v2.90 | OXCT1 | Eleanor Williams Source: Expert Review Red was removed from gene: OXCT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | OXCT1 |
Ivone Leong Source NHS GMS was added to OXCT1. Source London North GLH was added to OXCT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | OXCT1 |
Ellen McDonagh gene: OXCT1 was added gene: OXCT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 27604308 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency; severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism); Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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