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Skeletal dysplasia

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 7 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

spondylo-epi-(meta)-physeal dysplasias gp of SD. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LTBP3; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Dental anomalies and short stature 601216 associated with biallelic LTBP3 variants
Created: 6 Feb 2018, 10:40 a.m.
Associated with Geleophysic dysplasia 3 617809 phenotype in OMIM, not in G2P. At least 3 variants reported in 3 unrelated cases
Created: 6 Feb 2018, 10:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Geleophysic dysplasia 3 617809

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Geleophysic dysplasia 3 617809
  • Dental anomalies and short stature 610216
  • Geleophysic dysplasia 3 617809
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809 for gene: LTBP3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LTBP3. Rating Changed from Green List (high evidence) to Green List (high evidence)

6 Feb 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LTBP3 were set to Geleophysic dysplasia 3 617809

6 Feb 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).

6 Feb 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

LTBP3 was added to Unexplained skeletal dysplasia panel. Sources: Literature

6 Feb 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

LTBP3 was created by Sarah Leigh