Activity
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4 actions
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| Dilated Cardiomyopathy and conduction defects v1.55 | LAMA4 | Rebecca Whittington commented on gene: LAMA4: Cardiomyopathy, dilated, 1JJ OMIM#615235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | LAMA4 | Rebecca Whittington commented on gene: LAMA4: HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | LAMA4 | Rebecca Whittington reviewed gene: LAMA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | LAMA4 |
Ellen McDonagh Source South West GLH was added to LAMA4. Mode of inheritance for gene LAMA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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