Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Phenotypic overlap.Created: 1 Jul 2020, 7:52 a.m. | Last Modified: 1 Jul 2020, 7:52 a.m.
Panel Version: 0.44
Crystle Lee (Victorian Clinical Genetics Services)
Phenotypic overlap, Formerly known as Limb-girdle muscular dystrophy 1B (LGMD1B) but has been reclassified as EDMD (OMIM)
PMID: 27220833: 1 late onset patient with LGMD
PMID: 23746545: Late onset patient with severe LGMD
PMID: 17377071: Later onset phenotypes may be associated with LoF while dominant negative variants result in childhood onset disease
Sources: Expert ReviewCreated: 1 Jul 2020, 1:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Crystle Lee (Victorian Clinical Genetics Services)gene: LMNA was added gene: LMNA was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were set to 27220833; 23746545; 17377071 Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Mode of pathogenicity for gene: LMNA was set to Other Review for gene: LMNA was set to AMBER