Activity
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6 actions
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| Ectodermal dysplasia v3.35 | PPP1R13L | Eleanor Williams Tag Q4_23_promote_green was removed from gene: PPP1R13L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.35 | PPP1R13L | Eleanor Williams reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.34 | PPP1R13L |
Eleanor Williams Source Expert Review Green was added to PPP1R13L. Source NHS GMS was added to PPP1R13L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v3.10 | PPP1R13L | Arina Puzriakova Classified gene: PPP1R13L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.10 | PPP1R13L | Arina Puzriakova Gene: ppp1r13l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.9 | PPP1R13L |
Arina Puzriakova gene: PPP1R13L was added gene: PPP1R13L was added to Ectodermal dysplasia. Sources: Literature Q4_23_promote_green tags were added to gene: PPP1R13L. Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 28069640; 32666529; 35924320 Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 Review for gene: PPP1R13L was set to GREEN Added comment: Multiple individuals reported with variants in this gene. Phenotype consists of cardiac defects and variable ectodermal abnormalities affecting hair, skin and teeth. Given this is a prominent component of the phenotype in some cases and there are a sufficient number of individuals to support this gene-disease association, there is enough evidence to promote PPP1R13L to green status at the next GMS panel update. Sources: Literature |
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