| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiac conduction disease v0.35 | GJA5 | Bryony Thompson Marked gene: GJA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.35 | GJA5 | Bryony Thompson Gene: gja5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.35 | GJA5 | Bryony Thompson Classified gene: GJA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.35 | GJA5 | Bryony Thompson Gene: gja5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.34 | GJA5 |
Bryony Thompson gene: GJA5 was added gene: GJA5 was added to Cardiac conduction disease. Sources: NHS GMS Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA5 were set to 9501069; 10086977; 22247482; 36352534 Phenotypes for gene: GJA5 were set to heart conduction disease MONDO:0000992 Review for gene: GJA5 was set to AMBER Added comment: PMID: 9501069, 10086977 - null mouse model with cardiac conduction abnormalities characteristic of first-degree atrioventricular block with associated bundle branch block PMID: 22247482 - Q58L (absent from gnomAD v4) identified in a proband with progressive familial heart block, segregated to affected sibling and was likely present in mother that died of sudden cardiac death (the variant was absent from the probands father and maternal grandparents, suggesting the variant is de novo in the probands mother but no DNA was available for testing). In vitro functional assays showed the variant (Cx40-Q58L) impairs gap junction formation at cell-cell interfaces. PMID: 36352534 - a VUS p.(Arg316His) was identified in a case with idiopathic atrioventricular conduction disease. 49 hets in gnomAD v4. Sources: NHS GMS |
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