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Gene: LTBP3

Green List (high evidence)

LTBP3 (latent transforming growth factor beta binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000168056
EnsemblGeneIds (GRCh37): ENSG00000168056
OMIM: 602090, Gene2Phenotype
LTBP3 is in 9 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel. Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms. Inter- and intrafamilial variability has been reported.
Heterozygous LTBP3 mutations might be associated with increased risk for later-onset thoracic aortic disease.
>5 families described
Created: 5 Mar 2025, 5:03 a.m. | Last Modified: 5 Mar 2025, 5:03 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dental anomalies and short stature, MIM #601216

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tooth agenesis, selective, 6, 613097 (3)
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LTBP3 was added gene: LTBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)