Ehlers Danlos syndrome with a likely monogenic cause
Gene: LTBP4

LTBP4 (latent transforming growth factor beta binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000090006
EnsemblGeneIds (GRCh37): ENSG00000090006
OMIM: 604710, Gene2Phenotype
LTBP4 is in 4 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LTBP4; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotype
Created: 10 May 2017, 5:28 p.m.

Added to panel as can present with clinical features overlapping EDS
Created: 10 May 2017, 5:26 p.m.

Comment on publications: added publications to support evidence that variants of LTBP4 causes cutis laxa
Created: 10 May 2017, 5:26 p.m.

Created: 10 May 2017, 5:26 p.m.

Panel version: 0.373

Ellen Thomas (Genomics England Curator)

Comment on list classification: Causes cutis laxa, not EDS
Created: 8 Apr 2016, 3:12 p.m.

Created: 8 Apr 2016, 3:12 p.m.

Panel version: Imported from "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)" panel version 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Cutis laxa, autosomal recessive, type IC, OMIM:613177

OMIM

604710

Clinvar variants

Variants in LTBP4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LTBP4. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4