This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_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
-
- Victorian Clinical Genetics Services
- Expert Review Red
- Phenotypes
-
- FSGS
- Familial partial lipodystrophy
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Hereditary neuropathy
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Fetal anomalies
- Clefting
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Progressive cardiac conduction disease
- Dilated and arrhythmogenic cardiomyopathy
- Intellectual disability
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Osteogenesis imperfecta
- Familial diabetes
- DDG2P
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Monogenic diabetes
- Hypertrophic cardiomyopathy
History Filter Activity
24 Dec 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes FSGS; Familial partial lipodystrophy for gene: LMNA
23 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services 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