Activity
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12 actions
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| Early onset or syndromic epilepsy v8.123 | KCNT2 | Ida Ertmanska Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy 57, OMIM:617771 to Developmental and epileptic encephalopathy 57, OMIM:617771; developmental and epileptic encephalopathy, 57, MONDO:0033366 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.122 | KCNT2 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 27th Feb 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.122 | KCNT2 | Ida Ertmanska Phenotypes for gene: KCNT2 were changed from epilepsy; ?Epileptic encephalopathy, early infantile, 57 to Developmental and epileptic encephalopathy 57, OMIM:617771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.121 | KCNT2 | Ida Ertmanska Publications for gene: KCNT2 were set to 29069600; 29740868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.106 | KCNT2 | Nicholas Head reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.331 | KCNT2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.330 | KCNT2 | Rebecca Foulger Source NHS GMS was added to KCNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.315 | KCNT2 | Rebecca Foulger commented on gene: KCNT2: Kept rating as Green based on Green post-Webex review from Helen Lord. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.262 | KCNT2 | Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.261 | KCNT2 | Helen Lord reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.177 | KCNT2 |
Catherine Snow Source Expert Review Green was added to KCNT2. Source Expert Review was added to KCNT2. Mode of inheritance for gene KCNT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Epileptic encephalopathy, early infantile, 57 for gene: KCNT2 Publications for gene KCNT2 were changed from 29740868; 29069600 to 29069600; 29740868 Rating Changed from No List (delete) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v1.21 | KCNT2 |
Deb Pal gene: KCNT2 was added gene: KCNT2 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNT2 were set to 29740868; 29069600 Phenotypes for gene: KCNT2 were set to epilepsy Penetrance for gene: KCNT2 were set to unknown Review for gene: KCNT2 was set to GREEN gene: KCNT2 was marked as current diagnostic Added comment: Amplexa CHE-114 epilepsy panel Sources: Expert list |
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