Ehlers Danlos syndromes

Gene: LTBP4

Green List (high evidence)

LTBP4 (latent transforming growth factor beta binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000090006
EnsemblGeneIds (GRCh37): ENSG00000090006
OMIM: 604710, Gene2Phenotype
LTBP4 is in 5 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

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.

Ellen Thomas (Genomics England Curator)

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

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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LTBP4 were set to 26866239; 22829427; 27339457;25882708

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LTBP4 were set to 26866239; 22829427; 27339457;25882708

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LTBP4 were set to 26866239; 22829427; 27339457

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LTBP4 were set to 26866239;22829427; 27339457;

10 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LTBP4 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LTBP4 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red