Bilateral congenital or childhood onset cataracts
Gene: LIM2Comment 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.
Seen in 2 unrelated familiesCreated: 2 Jun 2016, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical Pulverulent Cataract; Cataract 19, 615277
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Tag recurrent-variant tag was added to gene: LIM2. Tag Q2_24_MOI tag was added to gene: LIM2.
Mode of inheritance for gene: LIM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIM2 were set to Ponnam et al (2008) Mol Vis 14:1204-1208; Pras et al (2002) Am J Hum genet 70:1363-7
Phenotypes for gene: LIM2 were changed from Cortical Pulverulent Cataract; Cataract 19, 615277 to Cataract 19, multiple types, OMIM:615277
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
This gene has been classified as Red List (Low Evidence).
LIM2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
LIM2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services