Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: LIMS2

Comment 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

Red List (low evidence)

Rare form of muscular dystrophy

Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

overlap phenotype with LGMD

Created: 10 May 2019, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb girdle muscular dystrophy; cardiomyopathy; triangular tongue

Publications

• 25589244

I don't know

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.

Red List (low evidence)

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 gnomAD

Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, type 2W, 616827

Publications

• 25589244

Green List (high evidence)

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

• PMID: 25589244

Red List (low evidence)

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