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| Likely inborn error of metabolism - targeted testing not possible v1.47 | POMT2 |
Ivone Leong Source NHS GMS was added to POMT2. Source London North GLH was added to POMT2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2 Publications for gene POMT2 were changed from 27604308 to 27421908 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 27604308 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 |
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