Arthrogryposis
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
3 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating of LMNA as Red based on advice from Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 1:42 p.m. | Last Modified: 26 Nov 2019, 1:42 p.m.
Panel Version: 2.57
Alice Gardham (Genomics England)
Comment on list classification: Progressive contractures rather than arthrogryposisCreated: 4 Jan 2017, 12:06 p.m.
Emma Clement (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 2, AD, 181350
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Phenotypes
-
- Congenital Muscular Dystrophy, LMNA-related (Dominant)
- Emery-Dreifuss muscular dystrophy 2, AD, 181350
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Proteinuric renal disease
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Fetal anomalies
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: lmna has been classified as Red List (Low Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: LMNA were set to
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services LMNA was added to Arthrogryposispanel. Source: UKGTN LMNA was added to Arthrogryposispanel. Source: Emory Genetics Laboratory LMNA was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen LMNA was added to Arthrogryposispanel. Source: Model of inheritance for gene LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)LMNA was created by ellenmcdonagh