Insulin resistance (including lipodystrophy)
Gene: LMNA
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Familial Partial Lipodystrophy Type 2, Dilated Cardiomyopathy, Charcot-Marie-Tooth disease, Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria, Malouf syndrome, Mandibuloacral dysplasia, limb-girdle muscular dystrophy, Restrictive dermopathy, overlap syndromes
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in Lipodystrophy, familial partial, 2, 151660Created: 11 Aug 2016, 9:58 a.m.
Comment on phenotypes: Variants also reported in Emery-Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 3, AR, 181350; Charcot-Marie-Tooth disease, type 2B1, 605588; Muscular dystrophy, congenital, 613205; Muscular dystrophy, limb-girdle, type 1B, 159001; Mandibuloacral dysplasia, 248370; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112Created: 11 Aug 2016, 9:57 a.m.
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for LMNA were set to Lipodystrophy, familial partial, 2, 151660
Mode of inheritance for LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen