Monogenic Diabetes
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
1 review
Hali Van Niel (University of Melbourne)
well established gene disease association with familial partial lipodystrophy, Dunnigan type, common feature presentation with type 2 diabetes mellitus
37843397: in a review of 494 patients with LMNA lipodystrophy, 241 had T2DM diagnosis, median age onset was 30yrsCreated: 21 May 2024, 5:03 a.m. | Last Modified: 21 May 2024, 5:03 a.m.
Panel Version: 0.125
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial partial lipodystrophy, Dunnigan type MONDO:0007906; type 2 diabetes mellitus MONDO:0005148
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
- Severe insulin resistance, partial lipodystrophy and diabetes
- FPLD2
- LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
- Lipodystrophy, familial partial, 2, 151660
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Monogenic Diabetes
- Incidentalome_PREGEN_DRAFT
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Transplant Co-Morbidity Superpanel
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Dilated Cardiomyopathy
- Prepair 500+
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMNA was added gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 24002959; 26775134 Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660