| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Eye Anterior Segment Abnormalities v0.2 | LAMB2 | Zornitza Stark Marked gene: LAMB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.2 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.2 | LAMB2 | Zornitza Stark Classified gene: LAMB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.2 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.0 | LAMB2 |
Chris Richmond gene: LAMB2 was added gene: LAMB2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 21730847; 18672223; 15367484; 20556798 Phenotypes for gene: LAMB2 were set to Pierson syndrome 609049 Penetrance for gene: LAMB2 were set to Complete Review for gene: LAMB2 was set to GREEN Added comment: From PMID 21730847 review: "The primary ocular feature is miosis. Other eye defects that are occasionally observed include iris hypoplasia, ectropion uveae, microcornea, glaucoma, cataract, posterior embryotoxon, microphthalmia, posterior lenticonus, microspherophakia, cloudy or enlarged corneas, and generalized anterior segment dysgenesis (PMID 18672223). The full spectrum of mutations and associated phenotypes was recently reviewed (PMID 20556798). The majority of mutations are truncating; while missense mutations are typically associated with later onset of renal disease and lack of neurologic abnormalities, phenotypic variability is not perfectly correlated to LAMB2 genotype" Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||