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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GALNT3 |
Ivone Leong Source NHS GMS was added to GALNT3. Source London North GLH was added to GALNT3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) for gene: GALNT3 Publications for gene GALNT3 were changed from 27604308 to 15133511 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh gene: GALNT3 was added gene: GALNT3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 27604308 Phenotypes for gene: GALNT3 were set to Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tumoral calcinosis, hyperphosphatemic, familial 211900 |
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