Multi-organ autoimmune diabetes
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:10 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- UKGTN
- Phenotypes
-
- Monogenic Diabetes
- Tags
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Osteogenesis imperfecta
- Clefting
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Proteinuric renal disease
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Congenital myopathy
- Progressive cardiac conduction disease
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Intellectual disability
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary neuropathy
- Familial diabetes
- Arrhythmogenic right ventricular cardiomyopathy
- Multi-organ autoimmune diabetes
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Pigmentary skin disorders
- Congenital muscular dystrophy
- Paediatric or syndromic cardiomyopathy
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: LMNA.
25 Jul 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LMNA was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN