Bilateral congenital or childhood onset cataracts

Gene: LIM2

Green List (high evidence)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 12:44 p.m. | Last Modified: 26 Sep 2024, 12:44 p.m.

Panel Version: 5.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Comment on mode of inheritance: The MOI should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update. At least 9 unrelated multigenerational families have been identified with cataracts due to a recurrent heterozygous LIM2 p.R130C variant (PMIDs: 32202185; 33078099; 33708862; 33923544; 35736209). These families come from different ancestries (British, Chinese, Spanish, Japanese) and haplotype analysis in families from shared ancestries has suggested the variant likely arose due to independent founder events in each family. The evidence therefore supports this MOI being included in future analyses.

Created: 15 Apr 2024, 4:01 p.m. | Last Modified: 15 Apr 2024, 4:04 p.m.

Panel Version: 4.12

Comment on list classification: Two families plus several mouse models.

Created: 7 Jun 2016, 1:08 p.m.

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

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