Skeletal dysplasia
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 2, 181350
- Heart-hand syndrome, Slovenian type 610140
- Foundation Trust) Mandibuloacral dysplasia 248370
- Muscular dystrophy, limb-girdle, type 1B 159001
- Malouf syndrome 212112
- 616516
- Cardiomyopathy, dilated, 1A 115200
- Lipodystrophy, familial partial, 2 151660
- Emery-Dreifuss muscular dystrophy 3, 616516
- Charcot-Marie-Tooth disease, type 2B1 605588
- Mandibuloacral dysplasia 248370
- Restrictive dermopathy, lethal 275210
- Hutchinson-Gilford progeria 176670
- Muscular dystrophy, congenital 613205
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- 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
- Additional findings_Adult
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Dilated Cardiomyopathy
- Prepair 500+
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMNA was added gene: LMNA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205