This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- FSGS
- Familial partial lipodystrophy
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
- Primary ovarian insufficiency
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Clefting
- Dilated Cardiomyopathy and conduction defects
- Skeletal dysplasia
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Progressive cardiac conduction disease
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Familial diabetes
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 24080738 Phenotypes for gene: LMNA were set to FSGS; Familial partial lipodystrophy