Muscular dystrophy and myopathy_Paediatric

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 25 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in LMNA cause a variety of overlapping disorders but association with congenital muscular dystrophy reported in more than 10 individuals.
Created: 16 Oct 2020, 6:55 a.m. | Last Modified: 16 Oct 2020, 6:55 a.m.
Panel Version: 0.284

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muscular dystrophy, congenital, MIM# 613205

Publications

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMNA was added gene: LMNA was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMNA was set to Unknown