Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric or syndromic cardiomyopathy v3.38 | PPP1R13L | Arina Puzriakova Phenotypes for gene: PPP1R13L were changed from sudden cardiac death; cardio-cutaneous syndrome to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v3.37 | PPP1R13L | Arina Puzriakova Tag gene-checked was removed from gene: PPP1R13L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v1.70 | PPP1R13L | Eleanor Williams Tag gene-checked tag was added to gene: PPP1R13L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.16 | PPP1R13L | Ivone Leong reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.15 | PPP1R13L | Ivone Leong Source NHS GMS was added to PPP1R13L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.1 | PPP1R13L |
Ivone Leong gene: PPP1R13L was added gene: PPP1R13L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 15661756; 28864777; 19016676; 28069640; 25691752 Phenotypes for gene: PPP1R13L were set to sudden cardiac death; cardio-cutaneous syndrome |