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| Likely inborn error of metabolism - targeted testing not possible v1.47 | POMGNT1 |
Ivone Leong Source NHS GMS was added to POMGNT1. Source London North GLH was added to POMGNT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 27604308 to 27421908 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh gene: POMGNT1 was added gene: POMGNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 27604308 Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 |
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