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| Dilated Cardiomyopathy and conduction defects v1.59 | LMNA | Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.59 | LMNA | Ivone Leong Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.55 | LMNA | Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A OMIM#115200; Charcot-Marie-Tooth disease, type 2B1 OMIM#605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM#181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM#6165163; Heart-hand syndrome, Slovenian type 6OMIM#10140; Hutchinson-Gilford progeria OMIM#176670; Lipodystrophy, familial partial, type 2 OMIM#151660; Malouf syndrome OMIM#212112; Mandibuloacral dysplasia OMIM#248370; Muscular dystrophy, congenital OMIM#613205; Restrictive dermopathy, lethal OMIM#275210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | LMNA | Rebecca Whittington commented on gene: LMNA: Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | LMNA | Rebecca Whittington reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | LMNA |
Ellen McDonagh Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Dilated Cardiomyopathy and conduction defects v1.46 | LMNA | Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.45 | LMNA | Ellen McDonagh Source London South GLH was added to LMNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.44 | LMNA | James Eden reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1A (115200), Charcot-Marie-Tooth disease, type 2B1 (605588), Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350), Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516), Heart-hand syndrome, Slovenian type (610140), Hutchinson-Gilford progeria (176670), Lipodystrophy, familial partial, type 2 (151660), Malouf syndrome (212112), Mandibuloacral dysplasia (248370), Muscular dystrophy, congenital (613205), Restrictive dermopathy, lethal (275210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.43 | LMNA |
Ellen McDonagh Source North West GLH was added to LMNA. Added phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Cardiomyopathy, dilated, 1A (115200); Mandibuloacral dysplasia (248370); Hutchinson-Gilford progeria (176670); Muscular dystrophy, congenital (613205); Heart-hand syndrome, Slovenian type (610140); Restrictive dermopathy, lethal (275210); Charcot-Marie-Tooth disease, type 2B1 (605588) for gene: LMNA Publications for gene LMNA were changed from to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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