Cataracts

Gene: LTBP3

Red List (low evidence)

LTBP3 (latent transforming growth factor beta binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000168056
EnsemblGeneIds (GRCh37): ENSG00000168056
OMIM: 602090, Gene2Phenotype
LTBP3 is in 7 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not on the Manchester congenital cataracts gene panel. Unclear whether this is associated with a cataract phenotype.
Created: 29 Apr 2016, 12:24 p.m.

Phenotypes
Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
Complete
Panels with this gene

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LTBP3 were set to Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LTBP3 was added to Cataractspanel. Sources: UKGTN