Ehlers Danlos syndromes

Gene: LTBP2

No list

LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels

1 review

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

I don't know

Based on the literature several individuals were suspected of Marfan syndrome. Not only due to eye changes, but also due to stature, increased arm span and decreased upper-to-lower body ratio.
Sources: Literature
Created: 13 May 2021, 9:55 a.m. | Last Modified: 13 May 2021, 9:57 a.m.
Panel Version: 2.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Inreased arm-span-to-height ratio
  • Decreased upper-to-lower body ratio
  • Lens dislocation
  • Pectus excavatum
  • Myopia
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 May 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: LTBP2 was added gene: LTBP2 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341 Phenotypes for gene: LTBP2 were set to Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia Penetrance for gene: LTBP2 were set to Complete Review for gene: LTBP2 was set to AMBER