Congenital muscular dystrophy

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

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital Muscular Dystrophy, LMNA-related (Dominant); Emery-Dreifuss muscular dystrophy 2, AD, 181350

History Filter Activity

4 Dec 2019, Gel status: 3

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source was removed from LMNA. Source NHS GMS was added to LMNA.

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

5 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LMNA were set to 15622532;18551513;15148145

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen