Ehlers Danlos syndromesGene: EFEMP2
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: EFEMP2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.
Comment on publications: added publications to support evidence that variants of EFEMP2 causes cutis laxa
Created: 10 May 2017, 5:01 p.m.
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 p.m.
Added to panel as can present with clinical features overlapping EDS
Created: 10 May 2017, 4:55 p.m.
Comment on list classification: Not EDS
Created: 8 Apr 2016, 3:19 p.m.
Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Source NHS GMS was added to EFEMP2. 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 EFEMP2 were set to 16685658;17937443;22943132;22943132
EFEMP2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for EFEMP2 was changed to BIALLELIC, autosomal or pseudoautosomal
EFEMP2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Red
EFEMP2 was created by ellenmcdonagh