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| Likely inborn error of metabolism v9.16 | POMGNT2 | Ida Ertmanska Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, MONDO:0013904; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, OMIM:618135; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, MONDO:0029135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | POMGNT2 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | POMGNT2 |
Ellen McDonagh gene: POMGNT2 was added gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 27066570 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
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