Activity
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4 actions
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| Likely inborn error of metabolism v2.86 | HMGCL | Eleanor Williams Source: Expert Review Red was removed from gene: HMGCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | HMGCL |
Ivone Leong Source NHS GMS was added to HMGCL. Source London North GLH was added to HMGCL. |
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| Likely inborn error of metabolism v0.4 | HMGCL |
Ellen McDonagh Added phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) for gene: HMGCL Publications for gene HMGCL were changed from 8617516; 28583327; 9463337; 11129331 to 27604308 |
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| Likely inborn error of metabolism v0.4 | HMGCL |
Ellen McDonagh gene: HMGCL was added gene: HMGCL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 8617516; 28583327; 9463337; 11129331 Phenotypes for gene: HMGCL were set to 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency, 246450; HMGCLD |
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