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| Paediatric or syndromic cardiomyopathy v0.16 | PPP1CB | Ivone Leong reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | PPP1CB | Ivone Leong Source NHS GMS was added to PPP1CB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | PPP1CB | Matthew Edwards changed review comment from: Several literature reports with good evidence for causation. Noonan-like syndrome has congenitall heart abnormalities (restricted to structural abnormalities, no reports of HCM), so gene isappropriate for this panel on bais of congential cardiac abnormalities.; to: Several literature reports with good evidence for causation. Noonan-like syndrome has congenitall heart abnormalities (restricted to structural abnormalities, no reports of HCM), so gene is appropriate for this panel on basis of congential cardiac abnormalities if panel is meant to encompass Rasopathies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | PPP1CB | Matthew Edwards reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27264673, 28211982, 27681385; Phenotypes: OMIM 617506 Noonan syndrome-like disorder with loose anagen hair 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | PPP1CB |
Ivone Leong Source Expert List was added to PPP1CB. Added phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 28211982; 27264673; 27681385 |
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| Paediatric or syndromic cardiomyopathy v0.1 | PPP1CB |
Ivone Leong gene: PPP1CB was added gene: PPP1CB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair |
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