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| Mendeliome v0.5500 | KCNJ18 | Zornitza Stark Marked gene: KCNJ18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5500 | KCNJ18 | Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5500 | KCNJ18 |
Zornitza Stark gene: KCNJ18 was added gene: KCNJ18 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ18 were set to 20074522; 27008341 Phenotypes for gene: KCNJ18 were set to {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Review for gene: KCNJ18 was set to RED Added comment: Six variants reported in original publication, however note lack of segregation data and limited functional data. Subsequently, concerns raised about high nucleotide sequence homology between multiple potassium channel genes, with variant misattribution. Sources: Expert Review |
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