| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiac conduction disease v0.29 | SCN1B | Bryony Thompson Marked gene: SCN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.29 | SCN1B | Bryony Thompson Gene: scn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.29 | SCN1B | Bryony Thompson Classified gene: SCN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.29 | SCN1B | Bryony Thompson Gene: scn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.28 | SCN1B |
Bryony Thompson gene: SCN1B was added gene: SCN1B was added to Cardiac conduction disease. Sources: NHS GMS Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1B were set to 19808477; 18464934; 28878239; 29758173 Phenotypes for gene: SCN1B were set to Heart conduction disease MONDO:0000992 Review for gene: SCN1B was set to AMBER Added comment: This gene is disputed for Brugada syndrome. There is a single family reported with decent segregation evidence of a missense variant (p.Glu87Gln) with conduction disease, and another missense that has been reported in a case with AF, that has been reported as pathogenic for epilepsy. PMID: 19808477 - R85H (8 hets in gnomAD v4) identified in a case with atrial fibrillation. This variant has also been reported in patients with GEFS and is reported LP/P in ClinVar. D153N (277 hets in gnomAD v4) also identified in a case with AF, but the variant is classified as a VUS. PMID: 18464934 - Glu87Gln (3 hets in gnomAD v4) identified in a Turkish family with 2 siblings with conduction abnormalities, inherited from mother with no cardiac phenotype (later determined to have clinical atrioventricular nodal reentry tachycardia in PMID: 29758173). c.536G>A Trp179Ter in beta1B transcript (NM_001037.5:c.448+88G>A - 44 hets gnomAD v4) identified in a family with conduction disease (3 affected cases & 1 unaffected individual). c.537G>A p.Trp179Ter (NM_001037.5(SCN1B):c.448+89G>A - 1 het in gnomAD v4) identified in fam 3 - 1 affected case & 1 unaffected individual. Haploinsufficiency is the suggested mechanism of disease supported by electrophysiologic data. PMID: 28878239 - in vitro functional assays suggesting Glu87Gln reduces sodium channel function. PMID: 29758173 - study suggesting p.Trp179Ter is not associated with disease, but has updated information for the Turkish family with p.Glu87Gln strengthening the segregation of the variant with conduction disease Sources: NHS GMS |
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