Arthrogryposis
Gene: LMNA
LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
1 review
Chirag Patel (Genetic Health Queensland)
Arthrogryposis reported
Sources: Expert listCreated: 22 Mar 2023, 11:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muscular dystrophy, congenital, OMIM #613205
Publications
- PMID:18551513
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Muscular dystrophy, congenital, OMIM #613205
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
-
- PMID:18551513
- 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
23 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmna has been classified as Green List (High Evidence).
22 Mar 2023, Gel status: 3
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lmna has been classified as Green List (High Evidence).
22 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: LMNA was added gene: LMNA was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to PMID:18551513 Phenotypes for gene: LMNA were set to Muscular dystrophy, congenital, OMIM #613205 Review for gene: LMNA was set to GREEN