Congenital myopathy

Gene: LMNA

Green List (high evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 11:44 a.m. | Last Modified: 9 Mar 2022, 11:44 a.m.
Panel Version: 2.72

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases for inclusion.
Created: 7 Mar 2017, 2:55 p.m.
Comment on list classification: Sufficient cases (2/80 with congenital fibre type disproportion and 4/23 with muscular dystrophy presentation) had heterozygous mutations.
Created: 7 Mar 2017, 2:54 p.m.

Anna Sarkozy (Great Ormond Street Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital fiber type disproportion myopathy

Publications

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 BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source UCL was removed from LMNA. Source NHS GMS was added to LMNA. Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Congenital fiber type disproportion myopathy

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

LMNA was added to Congenital myopathypanel. Sources: UCL

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

LMNA was created by anna.sarkozy