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

2 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:23 p.m. | Last Modified: 3 Aug 2022, 3:23 p.m.
Panel Version: 2.31
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 11:40 a.m. | Last Modified: 9 Mar 2022, 11:40 a.m.
Panel Version: 2.23

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

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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