Ehlers Danlos syndrome with a likely monogenic cause
Gene: LTBP4
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotypeCreated: 10 May 2017, 5:28 p.m.
Added to panel as can present with clinical features overlapping EDSCreated: 10 May 2017, 5:26 p.m.
Comment on publications: added publications to support evidence that variants of LTBP4 causes cutis laxaCreated: 10 May 2017, 5:26 p.m.
Comment on list classification: Causes cutis laxa, not EDSCreated: 8 Apr 2016, 3:12 p.m.
Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
Source NHS GMS was added to LTBP4. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for LTBP4 were set to 26866239; 22829427; 27339457;25882708
Publications for LTBP4 were set to 26866239; 22829427; 27339457;25882708
Publications for LTBP4 were set to 26866239; 22829427; 27339457
Publications for LTBP4 were set to 26866239;22829427; 27339457;
Phenotypes for LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177
LTBP4 was created by ellenmcdonagh
LTBP4 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red