Activity
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5 actions
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| Skeletal dysplasia v0.167 | KCNJ2 | Ain Roesley Marked gene: KCNJ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.167 | KCNJ2 | Ain Roesley Gene: kcnj2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.167 | KCNJ2 | Ain Roesley Classified gene: KCNJ2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.167 | KCNJ2 | Ain Roesley Gene: kcnj2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.166 | KCNJ2 |
Ain Roesley gene: KCNJ2 was added gene: KCNJ2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 20301441 Phenotypes for gene: KCNJ2 were set to Andersen syndrome MIM#170390 Review for gene: KCNJ2 was set to GREEN gene: KCNJ2 was marked as current diagnostic Added comment: Established association. From Genereviews: Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Sources: Literature |
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