Eye Anterior Segment Abnormalities
Gene: LAMB2EnsemblGeneIds (GRCh38): ENSG00000172037
EnsemblGeneIds (GRCh37): ENSG00000172037
OMIM: 150325, Gene2Phenotype
LAMB2 is in 12 panels
1 review
Chris Richmond (Genetic Health Queensland)
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: LiteratureCreated: 9 Jan 2020, 3:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pierson syndrome 609049
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pierson syndrome 609049
- OMIM
- 150325
- Clinvar variants
- Variants in LAMB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Proteinuria
- Mendeliome
- Eye Anterior Segment Abnormalities
- BabyScreen+ newborn screening
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lamb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lamb2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)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