Activity
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| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v1.4 |
Arina Puzriakova Panel name changed from Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing to Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic List of related panels changed from R451; GT1105; TP378 to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing; R451; GT1105; TP378 |
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| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.3 | Achchuthan Shanmugasundram Panel name changed from Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.2 | ACADM | Achchuthan Shanmugasundram reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.2 | ACADM | Achchuthan Shanmugasundram Classified gene: ACADM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.2 | ACADM | Achchuthan Shanmugasundram Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.1 | ACADM | Achchuthan Shanmugasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.1 | ACADM | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.1 | ACADM |
Achchuthan Shanmugasundram gene: ACADM was added gene: ACADM was added to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing. Sources: NHS GMS Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450 Review for gene: ACADM was set to RED Added comment: Sources: NHS GMS |
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| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - Diagnostic v0.0 |
Achchuthan Shanmugasundram Added Panel Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing Set list of related panels to R451 Set panel types to: GMS Rare Disease |
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