Ehlers Danlos syndromes

Gene: EFEMP2

Green List (high evidence)

EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 7 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: EFEMP2; 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)

Green List (high evidence)

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.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Not EDS
Created: 8 Apr 2016, 3:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, OMIM:614437
OMIM
604633
Clinvar variants
Variants in EFEMP2
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: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EFEMP2. 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 EFEMP2 were set to 16685658;17937443;22943132;22943132

10 May 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

EFEMP2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

10 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for EFEMP2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EFEMP2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Red

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EFEMP2 was created by ellenmcdonagh