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| Likely inborn error of metabolism - targeted testing not possible v1.47 | LARGE1 |
Ivone Leong Source NHS GMS was added to LARGE1. Source London North GLH was added to LARGE1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 for gene: LARGE1 Publications for gene LARGE1 were changed from 27421908 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 27421908 Phenotypes for gene: LARGE1 were set to N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 |
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