Skeletal dysplasia
Gene: LTBP3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with Dental anomalies and short stature (DASS) syndrome, which is characterised 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. More than 5 unrelated families reported.

At least three unrelated families also reported with mono-allelic variants and geleophysic dysplasia.

Also some suggestion that heterozygous variants may increase risk for thoracic aneurysm, PMID 34150014
Created: 11 Aug 2021, 8:33 a.m. | Last Modified: 11 Aug 2021, 8:33 a.m.

Panel Version: 0.8738

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm

Publications

Created: 11 Aug 2021, 8:33 a.m.
Last Modified: 11 Aug 2021, 8:33 a.m.
Panel version: Imported from Mendeliome panel version 0.8738

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert Review Green
Literature
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Dental anomalies and short stature 610216
Geleophysic dysplasia 3 617809
Geleophysic dysplasia 3 617809

OMIM

602090

Clinvar variants

Variants in LTBP3

Penetrance

None

Publications

27068007

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LTBP3 was added gene: LTBP3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LTBP3 were set to 27068007 Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809; Geleophysic dysplasia 3 617809

Skeletal dysplasia Gene: LTBP3