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 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Platyspondyly with amelogenesis imperfecta. At least 7 variants reported in at least 6 cases of Dental anomalies and short stature 601216.
Created: 8 Jan 2018, 12:52 p.m.
Comment on phenotypes: Monoallelic variants reported in Geleophysic dysplasia 3 617809
Created: 8 Jan 2018, 12:52 p.m.
Comment on mode of inheritance: Monoallelic variants associated with Geleophysic dysplasia 3 617809
Created: 8 Jan 2018, 12:44 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green, awaiting external review. LTBP3 is included in the 'prior genetic testing' inclusion list and features on the UKGTN 21-gene AI panel. Confirmed DD-G2P gene for 'PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA' and sufficient cases (>3) to support causation + mouse model reported in PMID:25669657.
Created: 19 Oct 2017, 11:11 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM and DD-G2P.
Created: 19 Oct 2017, 11:09 a.m.
Comment on publications: PMID:28084688 present a mouse model with Ltbp3-/- mice presenting with unique craniofacial malformations and reductions in enamel formation.
Created: 19 Oct 2017, 11:08 a.m.
PMID:25669657 (2015) report 4 families (3 consanguineous) from different ethnicities (Turkey, French caucasian, Brazil, Pakistan) characterized by significant short stature (platyspondyly/brachyolmia) and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. WES resulted in the identification of recessive variants including deletion, nonsense and splice variants in the LTBP3 gene. All variants segregated with the disease phenotype and were absent in EVS and 1000 genomes catalogs. PMID:25669657 also generated Ltbp3-/- mice with enamel defects.
Created: 19 Oct 2017, 11:06 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Other
Phenotypes
  • Dental anomalies and short stature, 601216
  • Amelogenesis Imperfecta
  • syndromic AI with brachyolmia
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

8 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia

8 Jan 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

19 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for LTBP3 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia

19 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for LTBP3 were set to 25669657; 28084688

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

LTBP3 was added to Amelogenesis Imperfectapanel. Source: UKGTN

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LTBP3 was added to Amelogenesis Imperfectapanel. Source: Eligibility statement prior genetic testing

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LTBP3 was added to Amelogenesis Imperfectapanel. Sources: Other

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LTBP3 was created by rfoulger