Lipodystrophy - childhood onsetGene: LMNA
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:21 p.m.
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
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, 151660
Created: 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, 212112
Created: 11 Aug 2016, 9:57 a.m.
Sarah Leigh: Comment on phenotypes: Variant
Gene: lmna has been classified as Green List (High Evidence).
gene: LMNA was added gene: LMNA was added to Lipodystrophy - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660