Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
LMNA Lamin A/C       | 1q22 | * Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.3, 1.4, 2.17, 10.40, 14.88)* Cardiomyopathy, dilated, 1A - CMD1A (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Lipodystrophy, familial partial, type 2 - FPLD2 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Hutchinson-Gilford progeria syndrome - HGPS (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Emery-Dreifuss Autosomal recessive - EDMD3 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* restrictive dermopathy - (1.3, 1.3, 1.4, 2.17, 10.40, 14.88)* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.3, 1.3, 1.4, 2.17, 10.40, 14.88) |