Limb girdle muscular dystrophy

Gene: LIMS2

Red List (low evidence)

LIMS2 (LIM zinc finger domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000072163
EnsemblGeneIds (GRCh37): ENSG00000072163
OMIM: 607908, Gene2Phenotype
LIMS2 is in 2 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

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

Chiara Marini Bettolo (NUTH)

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

Louise Daugherty (Genomics England Curator)

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.

Natalie Forrester (SWGLH - Bristol Genetics)

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

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2W, 616827
  • limb girdle muscular dystrophy
  • cardiomyopathy
  • triangular tongue
OMIM
607908
Clinvar variants
Variants in LIMS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lims2 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lims2 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to LIMS2.

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LIMS2.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to LIMS2.

27 Jul 2016, Gel status: 1

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.

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LIMS2 was created by sleigh

26 Jul 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

LIMS2 was added to Limb girdle muscular dystrophypanel. Sources: Literature