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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. LTBP3
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GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 a.m.

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

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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

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

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

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