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Severe Paediatric Disorders v0.12 | PPP1R21 | Louise Daugherty reviewed gene: PPP1R21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PPP1R21 | Louise Daugherty Publications for gene PPP1R21 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PPP1R21 | Louise Daugherty Mode of inheritance for gene PPP1R21 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PPP1R21 | Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PPP1R21 | Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PPP1R21 | Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PPP1R21 | Louise Daugherty Added phenotypes Hepatosplenomegaly; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Abnormality of the respiratory system for gene: PPP1R21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PPP1R21 | Louise Daugherty Source Next Generation Children Project was added to PPP1R21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PPP1R21 |
Louise Daugherty Source Expert Review Green was added to PPP1R21. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PPP1R21 |
Louise Daugherty gene: PPP1R21 was added gene: PPP1R21 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PPP1R21 was set to |