Skeletal dysplasia
Gene: LMNA
Osteolysis gp of SD - >3 cases. Also mutated in Cardiomyopathy, dilated, 1A 115200;Charcot-Marie-Tooth disease, type 2B1 605588;Lipodystrophy, familial partial, 2 151660;Malouf syndrome 212112;Muscular dystrophy, congenital 613205;Muscular dystrophy, limb-girdle, type 1B 159001;Restrictive dermopathy, lethal 275210; Emery-Dreifuss muscular dystrophy 2, 181350;Emery-Dreifuss muscular dystrophy 3,; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia 248370; 616516; Heart-hand syndrome, Slovenian type 610140; Hutchinson-Gilford progeria 176670
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LMNA; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:56 p.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia 248370; Cardiomyopathy, dilated, 1A 115200; Charcot-Marie-Tooth disease, type 2B1 605588; Emery-Dreifuss muscular dystrophy 2, 181350; Emery-Dreifuss muscular dystrophy 3, 616516; Heart-hand syndrome, Slovenian type 610140 ; Hutchinson-Gilford progeria 176670; Lipodystrophy, familial partial, 2 151660; Malouf syndrome 212112; Muscular dystrophy, congenital 613205; Muscular dystrophy, limb-girdle, type 1B 159001; Restrictive dermopathy, lethal 275210
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Heart-hand syndrome, Slovenian type 610140; 616516; Hutchinson-Gilford progeria 176670; Mandibuloacral dysplasia 248370 for gene: LMNA
Source NHS GMS was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for LMNA were set to Foundation Trust) Mandibuloacral dysplasia 248370; Cardiomyopathy, dilated, 1A 115200; Charcot-Marie-Tooth disease, type 2B1 605588; Emery-Dreifuss muscular dystrophy 2, 181350; Emery-Dreifuss muscular dystrophy 3, 616516; Heart-hand syndrome, Slovenian type 610140 ; Hutchinson-Gilford progeria 176670; Lipodystrophy, familial partial, 2 151660; Malouf syndrome 212112; Muscular dystrophy, congenital 613205; Muscular dystrophy, limb-girdle, type 1B 159001; Restrictive dermopathy, lethal 275210
Mode of inheritance for LMNA was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LMNA was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
LMNA was added to Unexplained skeletal dysplasiapanel. Sources:
LMNA was created by sleigh