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Severe Paediatric Disorders

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 29 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

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
Panels with this gene