Early onset or syndromic epilepsy
Gene: KCNA3
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.Created: 30 Jan 2024, 4:47 p.m. | Last Modified: 30 Jan 2024, 4:47 p.m.
Panel Version: 4.155
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
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 ReviewCreated: 29 Jan 2024, 3:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability; Developmental Delay; Epilepsy
Publications
Gene: kcna3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: KCNA3 were changed from Intellectual disability; Developmental Delay; Epilepsy to Neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Publications for gene: KCNA3 were set to PMID: 37964487
Tag Q1_24_promote_green tag was added to gene: KCNA3. Tag Q1_24_NHS_review tag was added to gene: KCNA3.
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