Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.9 | KCNJ4 | Eleanor Williams Phenotypes for gene: KCNJ4 were changed from Epileptic encephalopathy; Epilepsy; Developmental delay. to Epileptic encephalopathy; Epilepsy; Developmental delay. epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Alexander Symon-Allen, there are 4 unrelated individuals reported in literature with monoallelic KCNJ4 variants and epilepsy. Hence, this gene should be promoted to Green at the next GMS update.; to: Comment on list classification: As reviewed by Alexander Symon-Allen, there are 4 unrelated individuals reported in literature with monoallelic KCNJ4 variants and early-onset epilepsy. Hence, this gene should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska edited their review of gene: KCNJ4: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: KCNJ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska Classified gene: KCNJ4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska Added comment: Comment on list classification: As reviewed by Alexander Symon-Allen, there are 4 unrelated individuals reported in literature with monoallelic KCNJ4 variants and epilepsy. Hence, this gene should be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.7 | KCNJ4 | Ida Ertmanska Gene: kcnj4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.181 | KCNJ4 |
Alexander Symon-Allen gene: KCNJ4 was added gene: KCNJ4 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ4 were set to PMID: 41830586 Phenotypes for gene: KCNJ4 were set to Epileptic encephalopathy; Epilepsy; Developmental delay. Penetrance for gene: KCNJ4 were set to unknown Mode of pathogenicity for gene: KCNJ4 was set to Other Review for gene: KCNJ4 was set to AMBER Added comment: 1 study outlines four unrelated individuals with epilepsy with or without developmental delay that harbour four unique heterozygous KCNJ4 variants - 3 de novo, 1 inherited from an affected parent. Other inwardly rectifying potassium (Kir) channels have been implicated in epilepsy. Patch clamp studies provide preliminary evidence for both loss of function (Val206Met & Met293Lys) and gain of function (Gly136Ser & Glu384Lys) mechanisms. Further independent studies required to confirm this association. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||