Pneumothorax - familial

Gene: EFEMP2

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

This gene is also known as the synonym "FBLN4" (OMIM gene ID:604633).
Created: 8 Sep 2016, 3:31 p.m.

Stefan Marciniak (University of Cambridge)

Red List (low evidence)

Can be mutated in cutis laxa (AR), which can lead to emphysema and pneumothorax - tenuous link
Created: 8 Sep 2016, 3:29 p.m.
Can be mutated in cutis laxa (AR), which can lead to emphysema and pneumothorax - tenuous link
Created: 8 Sep 2016, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa

Publications

History Filter Activity

9 Feb 2017, Gel status: 1

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Sep 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

EFEMP2 was added to Familial Pneumothoraxpanel. Sources: Expert list

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

EFEMP2 was created by [email protected]