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| Brain channelopathy v1.59 | KCNJ2 | Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, MIM# 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.58 | KCNJ2 | Arina Puzriakova Classified gene: KCNJ2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.58 | KCNJ2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Green as there are sufficient unrelated cases (>3) with monoallelic variants in this potassium channel gene. KCNJ2 is also Green on the 'Skeletal muscle channelopathy v1.6' GMS panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.58 | KCNJ2 | Arina Puzriakova Gene: kcnj2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain channelopathy v1.55 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to Brain channelopathy. Sources: Expert list Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 16217063; 16571646; 16419128; 17324964 Phenotypes for gene: KCNJ2 were set to Andersen syndrome, MIM# 170390 Review for gene: KCNJ2 was set to GREEN Added comment: Multisystem channelopathy characterised by periodic paralysis as well as ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. > 10 families reported, well established gene-disease association. Sources: Expert list |
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