Primary ovarian insufficiency
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as POI reported in 2 sporadic patients.Created: 22 May 2017, 9:53 a.m.
Mutations in the LMNA gene cause a variety of disorders including dilated cardiomyopathy, muscular dystrophy, familial lipodystrophy, progeria, atypical progeroid syndromes, and mandibuloacral dysplasia. Premature ovarian insufficiency has been described in two unrelated patients presenting with dysmorphic features and progressive dilated cardiomyopathy and carrying the same mutation (c.176T>G, Leu59Arg).
Created: 10 May 2017, 1:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1A 115200
Publications
Ellen McDonagh (Genomics England Curator)
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:39 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for LMNA were set to 19283854
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Early onset familial premature ovarian insufficiencypanel. Sources: Other
Created
Ellen McDonagh (Genomics England Curator)LMNA was created by ellenmcdonagh