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| Early onset or syndromic epilepsy v4.155 | KCNA3 | Achchuthan Shanmugasundram Classified gene: KCNA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.155 | KCNA3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:37964487 and reviewed by Gavin Ryan, epilepsy was present in eight of twelve patients for whom detailed clinical information was available. Hence, this gene can be promoted to green rating in this panel in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.155 | KCNA3 | Achchuthan Shanmugasundram Gene: kcna3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.154 | KCNA3 | Achchuthan Shanmugasundram Phenotypes for gene: KCNA3 were changed from Intellectual disability; Developmental Delay; Epilepsy to Neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.153 | KCNA3 | Achchuthan Shanmugasundram Publications for gene: KCNA3 were set to PMID: 37964487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.152 | KCNA3 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: KCNA3. Tag Q1_24_NHS_review tag was added to gene: KCNA3. |
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| Early onset or syndromic epilepsy v4.152 | KCNA3 | Achchuthan Shanmugasundram reviewed gene: KCNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.152 | KCNA3 |
Gavin Ryan gene: KCNA3 was added gene: KCNA3 was added to Early onset or syndromic epilepsy. Sources: Expert Review Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA3 were set to PMID: 37964487 Phenotypes for gene: KCNA3 were set to Intellectual disability; Developmental Delay; Epilepsy Penetrance for gene: KCNA3 were set to unknown Review for gene: KCNA3 was set to GREEN Added comment: Soldovieri et al identified 14 de novo missense variants in KCNA3 gene. The majority of individuals presented with ID, developmental delay, and epilepsy, amongst other features. Functional studies showed loss-of-function effects for some variants and possible gain-of-function for others. One of these variants has also been identified in NHS GMS WGS patient with consistent features. Sources: Expert Review |
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