Limb girdle muscular dystrophy

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 30 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:24 a.m.

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Biallelic in Emery-Dreifuss MD, monoallelic in LGMD
Created: 27 May 2016, 3:38 p.m.

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for LMNA was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing

28 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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