| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paroxysmal Dyskinesia v0.135 | KCNJ10 | Zornitza Stark Publications for gene: KCNJ10 were set to 38979912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.134 | KCNJ10 | Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | KCNJ10 | Shekeeb Mohammad reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38436103, 38436103; Phenotypes: paroxysmal kinesigenic dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | KCNJ10 | Zornitza Stark Marked gene: KCNJ10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | KCNJ10 | Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | KCNJ10 | Zornitza Stark Classified gene: KCNJ10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | KCNJ10 | Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.132 | KCNJ10 |
Zornitza Stark gene: KCNJ10 was added gene: KCNJ10 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: KCNJ10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ10 were set to 38979912 Phenotypes for gene: KCNJ10 were set to Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related Review for gene: KCNJ10 was set to GREEN Added comment: 11 individuals from 8 unrelated families reported with variants in this gene and paroxysmal dyskinesia. Notably one was the parent of a child with recessive SeSAME syndrome (established gene-disease association). Patch-clamp recordings in HEK293T cells revealed apparent reductions in K+ currents of the patient-derived variants, indicating a loss-of-function. In Drosophila, milder hyperexcitability phenotypes were observed in heterozygous Irk2 knock-in flies compared to homozygotes, supporting haploinsufficiency as the mechanism for the detected heterozygous variants. Electrophysiological recordings showed that excitatory neurons in Irk2 haploinsufficiency flies exhibited increased excitability, and glia-specific complementation with human Kir4.1 rescued the Irk2 mutant phenotypes. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||