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| Likely inborn error of metabolism - targeted testing not possible v1.47 | POMT1 |
Ivone Leong Source NHS GMS was added to POMT1. Source London North GLH was added to POMT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 for gene: POMT1 Publications for gene POMT1 were changed from 27421908 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 27421908 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 |
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