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Skeletal dysplasia

Gene: LTBP2

Red List (low evidence)

LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Acromelic dysplasias gp of SD. Two unrelated cases with Weill-Marchesani reported with mutations. Also mutated in primary congenital glaucoma - 613086 and microspherophakia and/or megalocornea - 251750.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



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: LTBP2; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Weill-Marchesani for gene: LTBP2 Publications for gene LTBP2 were changed from to 22539340

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: LTBP2 was added gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: LTBP2 was set to