Skeletal dysplasia
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 2, 181350
- Heart-hand syndrome, Slovenian type 610140
- Charcot-Marie-Tooth disease, type 2B1 605588
- Emery-Dreifuss muscular dystrophy 3, 616516
- Cardiomyopathy, dilated, 1A 115200
- Hutchinson-Gilford progeria 176670
- Mandibuloacral dysplasia 248370
- Lipodystrophy, familial partial, 2 151660
- Restrictive dermopathy, lethal 275210
- Foundation Trust) Mandibuloacral dysplasia 248370
- 616516
- Muscular dystrophy, congenital 613205
- Muscular dystrophy, limb-girdle, type 1B 159001
- Malouf syndrome 212112
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Proteinuric renal disease
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Intellectual disability
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Clefting
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Heart-hand syndrome, Slovenian type 610140; 616516; Hutchinson-Gilford progeria 176670; Mandibuloacral dysplasia 248370 for gene: LMNA
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for LMNA was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)LMNA was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)LMNA was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)LMNA was created by sleigh