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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.0 | TTN | Sarah Milton reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 39277846, 37935568; Phenotypes: TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.0 | TTN | Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 | TTN |
Bryony Thompson gene: TTN was added gene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis |
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