Cataract
Gene: LIM2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 families reported with recessive cataract, both congenital and adult-onset >3 families reported with dominant cataract, both congenital and adult-onset No genotype-phenotype correlation: all reported variants are missense Mouse model: homozygous missense variants result in more severe phenotype
Created: 3 May 2022, 8:21 a.m. | Last Modified: 3 May 2022, 8:21 a.m.

Panel Version: 0.330

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataract 19, multiple types, MIM# 615277

Publications

Created: 3 May 2022, 8:21 a.m.
Last Modified: 3 May 2022, 8:21 a.m.
Panel version: 0.330

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cataract 19, multiple types, MIM# 615277

OMIM

154045

Clinvar variants

Variants in LIM2

Penetrance

None

Publications

Panels with this gene