Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | EXT2 |
Ivone Leong Source NHS GMS was added to EXT2. Source London North GLH was added to EXT2. |
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| Likely inborn error of metabolism v0.4 | EXT2 |
Ellen McDonagh Added phenotypes Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); ?Seizures, scoliosis, and macrocephaly syndrome 616682 for gene: EXT2 Publications for gene EXT2 were changed from 27604308 to 12417417 |
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| Likely inborn error of metabolism v0.4 | EXT2 |
Ellen McDonagh gene: EXT2 was added gene: EXT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EXT2 were set to 27604308 Phenotypes for gene: EXT2 were set to Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 2 133701; ?Seizures, scoliosis, and macrocephaly syndrome 616682 |
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