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Severe Paediatric Disorders v0.12 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RTTN Louise Daugherty reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TTN Louise Daugherty Publications for gene TTN were updated from to 30847515
Severe Paediatric Disorders v0.11 RTTN Louise Daugherty Publications for gene RTTN were updated from to 30847515
Severe Paediatric Disorders v0.10 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.10 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.8 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, dilated, 1G, 604145; Cardiomyopathy, familial hypertrophic, 9, 613765 for gene: TTN
Severe Paediatric Disorders v0.8 RTTN Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.8 TTN Louise Daugherty Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.8 RTTN Louise Daugherty Mode of inheritance for gene RTTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.7 TTN Louise Daugherty Source Next Generation Children Project was added to TTN.
Severe Paediatric Disorders v0.7 RTTN Louise Daugherty Source Next Generation Children Project was added to RTTN.
Severe Paediatric Disorders v0.5 TTN Louise Daugherty Source Expert Review Green was added to TTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RTTN Louise Daugherty Source Expert Review Green was added to RTTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TTN Louise Daugherty gene: TTN was added
gene: TTN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TTN was set to
Severe Paediatric Disorders v0.4 RTTN Louise Daugherty gene: RTTN was added
gene: RTTN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RTTN was set to