Ehlers Danlos syndrome with a likely monogenic cause
Gene: FBLN5
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: FBLN5; 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 phenotype of cutis laxaCreated: 10 May 2017, 5:20 p.m.
Comment on publications: To date, five families with autosomal recessive FBLN5-related cutis laxa have been described, but only one family reported to date to have demonstrated autosomal dominant inheritanceCreated: 10 May 2017, 5:20 p.m.
Added to panel as can present with clinical features overlapping EDSCreated: 10 May 2017, 5:10 p.m.
Comment on list classification: Not EDSCreated: 8 Apr 2016, 3:20 p.m.
Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Source NHS GMS was added to FBLN5. 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 FBLN5 were set to 12618961; 23328402; 22829427; 20301756
Publications for FBLN5 were set to 12618961; 23328402; 22829427;20301756
FBLN5 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Publications for FBLN5 were set to 12618961; 23328402; 22829427
Publications for FBLN5 were set to 12618961;23328402;22829427;
Mode of inheritance for FBLN5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
FBLN5 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Red
FBLN5 was created by ellenmcdonagh