Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: LIMS2Comment on list classification: This gene will remain Red based on overall consensus of reviews and comments.Created: 28 Nov 2019, 5:23 p.m. | Last Modified: 28 Nov 2019, 5:23 p.m.
Panel Version: 1.168
Rare form of muscular dystrophyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMDCreated: 10 May 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Publications
Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 11:45 a.m.
Unable to find any evidence of clear LGMD association. PMID:25589244 - two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Absent from gnomADCreated: 30 Apr 2019, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2W, 616827
Publications
Inclusion of this gene is justified given the reported overlap with LGMD in the family identified.Created: 29 Mar 2019, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Publications
Comment when marking as ready: Two variants reported in compound heterozygous siblings (2015), no other reports to date.Created: 26 Jul 2016, 7:22 a.m.
Two variants reported in compound heterozygous siblings (2015).Created: 26 Jul 2016, 7:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: lims2 has been classified as Red List (Low Evidence).
Gene: lims2 has been classified as Red List (Low Evidence).
Source Yorkshire and North East GLH was added to LIMS2.
Phenotypes for gene: LIMS2 were changed from Muscular dystrophy, limb-girdle, type 2W 616827 to Muscular dystrophy, limb-girdle, type 2W, 616827; limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Source NHS GMS was added to LIMS2.
Source South West GLH was added to LIMS2.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
LIMS2 was created by sleigh
LIMS2 was added to Limb girdle muscular dystrophypanel. Sources: Literature