Cataracts

Gene: LTBP2

Red List (low evidence)

LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 10 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, cataracts not a usual feature as far as I am aware
Created: 25 May 2016, 8:10 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted to red list due to expert review.
Created: 31 May 2016, 10:05 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for microspherophakia and primary congenital glaucoma Type 3D (don't seem to include cataract as a phenotype).
Created: 29 Apr 2016, 12:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LTBP2 was added to Cataractspanel. Sources: UKGTN