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Severe Paediatric Disorders v0.17 | CAPN3 | Louise Daugherty Mode of inheritance for gene CAPN3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CAPN3 | Louise Daugherty reviewed gene: CAPN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CAPN3 | Louise Daugherty Publications for gene CAPN3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CAPN3 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CAPN3 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CAPN3 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 for gene: CAPN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CAPN3 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 for gene: CAPN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CAPN3 | Louise Daugherty Source Next Generation Children Project was added to CAPN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CAPN3 |
Louise Daugherty Source Expert Review Green was added to CAPN3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CAPN3 |
Louise Daugherty gene: CAPN3 was added gene: CAPN3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CAPN3 was set to |