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| Likely inborn error of metabolism - targeted testing not possible v1.76 | MICU1 |
Sarah Leigh Source Expert Review Green was added to MICU1. Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1 Publications for gene MICU1 were changed from to 24336167; 29721912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GNS |
Ivone Leong Source NHS GMS was added to GNS. Source London North GLH was added to GNS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GNS |
Ellen McDonagh gene: GNS was added gene: GNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III |
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