Clefting
Gene: LMNA
LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
1 review
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Cleft is described in the OMIM clinical synopsis, but I cannot find further evidence in pubmedCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RESTRICTIVE DERMOPATHY, LETHAL
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- RESTRICTIVE DERMOPATHY, LETHAL
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Left Ventricular Noncompaction Cardiomyopathy
- Fetal anomalies
- Skeletal dysplasia
- Proteinuric renal disease
- Congenital muscular dystrophy
- Arrhythmogenic right ventricular cardiomyopathy
- Primary ovarian insufficiency
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Severe insulin resistance and lipodystrophy syndromes
- Pigmentary skin disorders
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Clefting
- Hereditary neuropathy
- Familial diabetes
- DDG2P
- Congenital myopathy
- Arthrogryposis
- Multi-organ autoimmune diabetes
- Intellectual disability
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Cleftingpanel. Sources: Expert Review Amber
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LMNA was created by ellenmcdonagh