Ehlers Danlos syndromes

Gene: LTBP1

No list

LTBP1 (latent transforming growth factor beta binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000049323
EnsemblGeneIds (GRCh37): ENSG00000049323
OMIM: 150390, Gene2Phenotype
LTBP1 is in 3 panels

1 review

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

Green List (high evidence)

Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature
Created: 14 Jun 2021, 10:46 a.m. | Last Modified: 14 Jun 2021, 10:49 a.m.
Panel Version: 2.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa; Craniofacial dysmorphism; Altered skeletal development, including short stature; Brachydactyly; Clinodactyly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cutis laxa
  • craniofacial dysmorphism
  • altered skeletal development, including short stature
  • brachydactyly
  • clinodactyly
OMIM
150390
Clinvar variants
Variants in LTBP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Jun 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: LTBP1 was added gene: LTBP1 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to PMID: 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly Penetrance for gene: LTBP1 were set to Complete Review for gene: LTBP1 was set to GREEN