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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC39A8 |
Ivone Leong Source NHS GMS was added to SLC39A8. Source London North GLH was added to SLC39A8. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8 Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh gene: SLC39A8 was added gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 27604308 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) |
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