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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy MONDO:0020121, MAMDC2-related to Muscular Dystrophy MONDO:0020121, MAMDC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Marked gene: MAMDC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy to Muscular Dystrophy MONDO:0020121, MAMDC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 | MAMDC2 | Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | MAMDC2 | Belinda Chong edited their review of gene: MAMDC2: Changed phenotypes: Muscular Dystrophy MONDO:0020121, MAMDC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | MAMDC2 |
Belinda Chong gene: MAMDC2 was added gene: MAMDC2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAMDC2 were set to 37503746 Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy Review for gene: MAMDC2 was set to AMBER Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease. Sources: Literature |
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