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Fetal anomalies

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

Daniel Flanagan (Victorian Clinical Genetics Services)

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: 14 Nov 2021, 10:20 p.m. | Last Modified: 14 Nov 2021, 10:20 p.m.
Panel Version: 0.426

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dental anomalies and short stature, MIM# 601216
  • Geleophysic dysplasia 3, MIM# 617809
  • Thoracic aneurysm
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ltbp3 has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LTBP3 were changed from PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA to Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LTBP3 were set to

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA