Glaucoma (developmental)
Gene: LTBP2
DB Glaucoma gene, but at least three individual cases have been associated with megalocorneaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Glaucoma gene, but at least three individual cases have been associated with megalocorneaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Feedback from Arianna Tucci: yes green sounds sensible.Created: 26 Apr 2017, 9:02 a.m.
Comment on list classification: Seems to be multiple reports (>3 families) for primary congenital glaucoma. Confirmed DD gene for PRIMARY CONGENITAL GLAUCOMA TYPE 3D.Created: 12 Apr 2017, 3:24 p.m.
Secondary to megalocorneaCreated: 17 Mar 2017, 3:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for LTBP2 were set to Primary Congenital Glaucoma; Glaucoma 3, primary congenital, D 613086
This gene has been classified as Amber List (Moderate Evidence).
Publications for LTBP2 were set to 19361779;21081970;20179738;19656777
Model of inheritance for gene LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
LTBP2 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
LTBP2 was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services