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| Cardiac conduction disease v0.5 | SCN5A | Bryony Thompson edited their review of gene: SCN5A: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.5 | SCN5A | Bryony Thompson Mode of inheritance for gene: SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.4 | SCN5A | Bryony Thompson Classified gene: SCN5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.4 | SCN5A | Bryony Thompson Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.3 | SCN5A |
Bryony Thompson gene: SCN5A was added gene: SCN5A was added to Cardiac conduction disease. Sources: NHS GMS Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 39134129; 11804990; 16643399; 15466643 Phenotypes for gene: SCN5A were set to progressive familial heart block MONDO:0019490 Review for gene: SCN5A was set to GREEN gene: SCN5A was marked as current diagnostic Added comment: Pathogenic SCN5A variants have been associated with cardiac conduction disease alone or in pleiotropic/overlapping cardiac syndromes. In a large study of SCN5A PV carriers 3.5% (6/170) had isolated progressive cardiac conduction disease. Sources: NHS GMS |
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