Activity
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4 actions
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| Likely inborn error of metabolism v1.47 | GALNT12 |
Ivone Leong Source NHS GMS was added to GALNT12. Source London North GLH was added to GALNT12. |
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| Likely inborn error of metabolism v0.7 | GALNT12 | Ellen McDonagh Mode of inheritance for gene: GALNT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | GALNT12 |
Ellen McDonagh Mode of inheritance for gene GALNT12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown Added phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)); GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 for gene: GALNT12 |
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| Likely inborn error of metabolism v0.4 | GALNT12 |
Ellen McDonagh gene: GALNT12 was added gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GALNT12 were set to 27604308 Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 |
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