Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: LMNAComment when marking as ready: Phenotypic overlap.Created: 1 Jul 2020, 7:52 a.m. | Last Modified: 1 Jul 2020, 7:52 a.m.
Panel Version: 0.44
Phenotypic overlap, Formerly known as Limb-girdle muscular dystrophy 1B (LGMD1B) but has been reclassified as EDMD (OMIM)
PMID: 27220833: 1 late onset patient with LGMD
PMID: 23746545: Late onset patient with severe LGMD
PMID: 17377071: Later onset phenotypes may be associated with LoF while dominant negative variants result in childhood onset disease
Sources: Expert ReviewCreated: 1 Jul 2020, 1:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)
Publications
Mode of pathogenicity
Other
Gene: lmna has been classified as Green List (High Evidence).
Gene: lmna has been classified as Green List (High Evidence).
Gene: lmna has been classified as Amber List (Moderate Evidence).
gene: LMNA was added gene: LMNA was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were set to 27220833; 23746545; 17377071 Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Mode of pathogenicity for gene: LMNA was set to Other Review for gene: LMNA was set to AMBER