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Severe Paediatric Disorders v0.17 | CRYAB | Louise Daugherty Mode of inheritance for gene CRYAB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CRYAB | Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CRYAB | Louise Daugherty Publications for gene CRYAB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CRYAB | Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CRYAB | Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CRYAB | Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CRYAB | Louise Daugherty Added phenotypes Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Cataract 16, multiple types, 613763 for gene: CRYAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CRYAB | Louise Daugherty Source Next Generation Children Project was added to CRYAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CRYAB |
Louise Daugherty Source Expert Review Green was added to CRYAB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CRYAB |
Louise Daugherty gene: CRYAB was added gene: CRYAB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CRYAB was set to |