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LAMB2 and congenital cataract are reported together in 2 articles.
Gene
LAMB2
- HGNC
- HGNC:6487
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital cataract
165articles
165mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.
PMID 37678612 | DOI 10.1016/j.oret.2023.08.022 · Ophthalmology. Retina · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “Eleven eyes (50%) had cataract at presentation.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.619T>C | “DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene.” | 0.95 | hgvs_regex_v1 |
| variant | p.Ser207Pro | “DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene.” | 0.95 | hgvs_regex_v1 |
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.
PMID 33554690 | DOI 10.1080/13816810.2021.1881982 · Ophthalmic genetics · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.Methods: Retrospective case report.Results: A 17-year old monocular female presented with sudden onset of pain and decreased vision in the right eye.” | 0.93 | phenotype_alias_lexicon_v2 |