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Amelogenesis imperfecta

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dental anomalies and short stature (DASS) syndrome 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.
Created: 11 Aug 2021, 8:35 a.m. | Last Modified: 11 Aug 2021, 8:35 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dental anomalies and short stature, MIM# 601216

Publications

Created: 11 Aug 2021, 8:35 a.m.
Last Modified: 11 Aug 2021, 8:35 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dental anomalies and short stature, 601216
  • Amelogenesis Imperfecta
  • syndromic AI with brachyolmia
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 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).

11 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LTBP3 were set to 28084688; 25669657

7 May 2021, 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 Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 28084688; 25669657 Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia