Cataracts

Gene: LIM2

Green List (high evidence)

LIM2 (lens intrinsic membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000105370
EnsemblGeneIds (GRCh37): ENSG00000105370
OMIM: 154045, Gene2Phenotype
LIM2 is in 2 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Two families plus several mouse models.
Created: 7 Jun 2016, 1:08 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Seen in 2 unrelated families
Created: 2 Jun 2016, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical Pulverulent Cataract; Cataract 19, 615277

Publications

  • Ponnam et al (2008) Mol Vis 14:1204-1208
  • Pras et al (2002) Am J Hum genet 70:1363-7

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Not on the Manchester congenital cataracts gene panel, and not found associated with a phenotype in G2P. Associated with Cataract 19, multiple types in OMIM, with 2 different variants reported in two different unrelated families.
Created: 25 Apr 2016, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 19, multiple types

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cortical Pulverulent Cataract
  • Cataract 19, 615277
OMIM
154045
Clinvar variants
Variants in LIM2
Penetrance
Complete
Publications
  • Ponnam et al (2008) Mol Vis 14:1204-1208
  • Pras et al (2002) Am J Hum genet 70:1363-7
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LIM2 were set to Ponnam et al (2008) Mol Vis 14:1204-1208; Pras et al (2002) Am J Hum genet 70:1363-7

13 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

LIM2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LIM2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services