Activity
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| Paediatric or syndromic cardiomyopathy v7.56 | SCN8A | Achchuthan Shanmugasundram Classified gene: SCN8A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.56 | SCN8A |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case available in support of the association of monoallelic SCN8A variants with cardiomyopathy from UK 100,000 genomes cohort. The cardiomyopathy phenotype is not explained by the genotype in this patient. Hence, there is no reliable evidence for this association and this gene should be rated red on this panel. |
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| Paediatric or syndromic cardiomyopathy v7.56 | SCN8A | Achchuthan Shanmugasundram Gene: scn8a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.55 | SCN8A | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 01 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.55 | SCN8A | Achchuthan Shanmugasundram Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.54 | SCN8A |
Achchuthan Shanmugasundram changed review comment from: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy. However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype. In addition, no cardiac presentations has been recorded as part of the OMIM phenotypes. Sources: Literature; to: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy. However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype. In addition, no cardiac presentations have been recorded as clinical manifestations for the OMIM phenotypes. Sources: Literature |
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| Paediatric or syndromic cardiomyopathy v7.54 | SCN8A |
Achchuthan Shanmugasundram gene: SCN8A was added gene: SCN8A was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 3947290 Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364 Review for gene: SCN8A was set to RED Added comment: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy. However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype. In addition, no cardiac presentations has been recorded as part of the OMIM phenotypes. Sources: Literature |
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