Ehlers Danlos syndrome with a likely monogenic cause
Gene: FBLN5

FBLN5 (fibulin 5)
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 11 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: FBLN5; 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 of cutis laxa
Created: 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 inheritance
Created: 10 May 2017, 5:20 p.m.

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

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

Panel version: 0.363

Ellen Thomas (Genomics England Curator)

Comment on list classification: Not EDS
Created: 8 Apr 2016, 3:20 p.m.

Created: 8 Apr 2016, 3:20 p.m.

Panel version: Imported from "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)" panel version 0.15

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

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

Phenotypes

?Cutis laxa, autosomal dominant 2, OMIM:614434
Cutis laxa, autosomal recessive, type IA, OMIM:219100

OMIM

604580

Clinvar variants

Variants in FBLN5

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: 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

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FBLN5. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4