Deafness_IsolatedAndComplex
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels
1 review
Rylee Peters (Victorian Clinical Genetics Services)
PMID: 32913962; Total of 13 individuals heterozygous for the R349W variant. Recurrent phenotypes in these individuals include partial lipodystrophy, proteinuric nephropathy, cardiopathies and sensorineural hearing impairment.
Hearing impairment was identified in 66% of the patients (6/9 individuals, 4 were not reported) and ranged from reduction or complete sensorineural deafness.
Sources: LiteratureCreated: 13 Jun 2024, 3:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Laminopathy (MONDO#0021106), LMNA-related
Publications
- PMID: 32913962
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Laminopathy (MONDO#0021106), LMNA-related
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- None
- Publications
-
- PMID: 32913962
- 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
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).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rylee Peters (Victorian Clinical Genetics Services)gene: LMNA was added gene: LMNA was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to PMID: 32913962 Phenotypes for gene: LMNA were set to Laminopathy (MONDO#0021106), LMNA-related Review for gene: LMNA was set to GREEN