Identity
HGNC
LOCATION
1q22
LOCUSID
ALIAS
CDCD1,CDDC,CMD1A,CMT2B1,EMD2,FPL,FPLD,FPLD2,HGPS,IDC,LDP1,LFP,LGMD1B,LMN1,LMNC,LMNL1,MADA,PRO1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4000
MIM: 150330
HGNC: 6636
Ensembl: ENSG00000160789
Variants:
dbSNP: 4000
ClinVar: 4000
TCGA: ENSG00000160789
COSMIC: LMNA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162375571 | ACTC1 | Gene | DataAnnotation | associated | |||
| PA28707 | GLA | Gene | DataAnnotation | associated | |||
| PA31351 | MYBPC3 | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA31381 | MYL3 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36638 | TNNT2 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37246508 | 2024 | Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy. | 0 |
| 37843397 | 2024 | Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review. | 2 |
| 38255001 | 2024 | Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome. | 0 |
| 38554696 | 2024 | Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells. | 0 |
| 38613194 | 2024 | Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model. | 0 |
| 38739524 | 2024 | Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases. | 0 |
| 38892025 | 2024 | Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins. | 0 |
| 37246508 | 2024 | Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy. | 0 |
| 37843397 | 2024 | Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review. | 2 |
| 38255001 | 2024 | Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome. | 0 |
| 38554696 | 2024 | Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells. | 0 |
| 38613194 | 2024 | Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model. | 0 |
| 38739524 | 2024 | Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases. | 0 |
| 38892025 | 2024 | Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins. | 0 |
| 35514053 | 2023 | A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family. | 0 |
Citation
Dessen P
LMNA (lamin A/C)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43997
