Congenital myopathy
Gene: LMNAThe 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, 3:25 p.m. | Last Modified: 3 Aug 2022, 3:25 p.m.
Panel Version: 2.89
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital fiber type disproportion myopathy
Publications
Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
LMNA was added to Congenital myopathypanel. Sources: UCL
LMNA was created by anna.sarkozy