Glaucoma congenital
Gene: LTBP2

LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants associated with isolated and syndromic congenital glaucoma.
Created: 8 Oct 2020, 12:23 a.m. | Last Modified: 8 Oct 2020, 12:23 a.m.

Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glaucoma 3, primary congenital, D 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750

Publications

Created: 8 Oct 2020, 12:23 a.m.
Last Modified: 8 Oct 2020, 12:23 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glaucoma 3, primary congenital, D 613086
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750

OMIM

602091

Clinvar variants

Variants in LTBP2

Penetrance

None

Publications

Panels with this gene