Research panel - Severe Paediatric Disorders
Gene: LMNA

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LMNA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1A, 115200 (3) | Charcot-Marie-Tooth disease, type 2B1, 605588 (3) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3) | Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3) | Heart-hand syndrome, Slovenian type, 610140 (3) | Hutchinson-Gilford progeria, 176670 (3) | Lipodystrophy, familial partial, type 2, 151660 (3) | Malouf syndrome, 212112 (3) | Mandibuloacral dysplasia, 248370 (3) | Muscular dystrophy, congenital, 613205 (3) | Restrictive dermopathy, lethal, 275210 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Malouf syndrome, 212112
Hutchinson-Gilford progeria, 176670
Lipodystrophy, familial partial, type 2, 151660
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516
Heart-hand syndrome, Slovenian type, 610140
Cardiomyopathy, dilated, 1A, 115200
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350
Muscular dystrophy, congenital, 613205
Restrictive dermopathy, lethal, 275210
Charcot-Marie-Tooth disease, type 2B1, 605588
Mandibuloacral dysplasia, 248370

OMIM

150330

Clinvar variants

Variants in LMNA

Penetrance

None

Publications

30847515

Panels with this gene