Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.32 GJA5 Ivone Leong Publications for gene: GJA5 were set to
Progressive cardiac conduction disease v0.30 GJA5 Ivone Leong reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.28 GJA5 James Eden reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: None; Publications: 22247482; Phenotypes: Atrial fibrillation, familial, 11 614049, Atrial standstill, digenic (GJA5/SCN5A) 108770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Progressive cardiac conduction disease v0.18 GJA5 Rebecca Whittington commented on gene: GJA5: Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770)
Progressive cardiac conduction disease v0.17 GJA5 Rebecca Whittington commented on gene: GJA5: Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.
Progressive cardiac conduction disease v0.16 GJA5 Rebecca Whittington reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.15 GJA5 Ellen McDonagh gene: GJA5 was added
gene: GJA5 was added to Progressive cardiac conduction disease. Sources: South West GLH
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted