Osteogenesis imperfecta
Gene: LMNA
LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Arrhythmogenic right ventricular cardiomyopathy
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- Congenital muscular dystrophy
- Proteinuric renal disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Skeletal dysplasia
- Left Ventricular Noncompaction Cardiomyopathy
- Congenital myopathy
- Intellectual disability
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Familial diabetes
- Multi-organ autoimmune diabetes
History Filter Activity
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory