Proteinuric renal disease
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
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: LMNA; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 24080738; PMID: 28620495; Other comments: Amber: PMID: 24080738 One family with partial lipodysrophy (16 members), four of whom have biopsy proven FSGS. Disease shown to segregate with rare LMNA missense variant. Second paper PMID: 28620495, one patient with mild proteinuria and same rare LMNA variant previously reported.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Partial lipodystrophy and FSGS
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Partial lipodystrophy and FSGS
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Monogenic diabetes
- Hereditary neuropathy or pain disorder
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Clefting
- Dilated Cardiomyopathy and conduction defects
- Pigmentary skin disorders
- Familial diabetes
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Arthrogryposis
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LMNA were changed from to Partial lipodystrophy and FSGS
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: LMNA were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: LMNA was added gene: LMNA was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: LMNA was set to