| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.145 | GJC1 | Zornitza Stark Marked gene: GJC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.145 | GJC1 | Zornitza Stark Gene: gjc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.140 | GJC1 | Lucy Spencer Publications for gene: GJC1 were set to 28705318:36979038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.139 | GJC1 | Lucy Spencer Publications for gene: GJC1 were set to 28705318:36979038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.138 | GJC1 | Lucy Spencer Classified gene: GJC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.138 | GJC1 | Lucy Spencer Gene: gjc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.137 | GJC1 |
Lucy Spencer gene: GJC1 was added gene: GJC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GJC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJC1 were set to 28705318:36979038 Phenotypes for gene: GJC1 were set to atrioventricular block MONDO:0000465, GJC1-related Review for gene: GJC1 was set to AMBER Added comment: PMID 28705318 reports 1 individual and another unrelated family with AV block, finger deformities, dental dysplasia and a brachyfacial pattern. Both had R75H in GJC1, de novo in the sporadic case, and segregated with disease in 4 affected individuals across 3 generations in the other family. Some functional evidence on transfected cells suggested the variant had a dominant negative effect on gap-junction communication. PMID 36979038 reports a family with 13 affected individuals with AV block and congenital heart disease (mainly ASD). R184G was identified in all affected individuals. Again some functional evidence suggesting a dominant negative effect. No craniofacial, dental or digital anomalies were observed in this family, authors suggest this may be due to the fact their variant only suppresses the electrophysiological properties of the protein while R75H from the previous paper also suppresses the permeable functions. Sources: Literature |
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