Pneumothorax - familial
Gene: EFEMP2
EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 8 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)
Can be mutated in cutis laxa (AR), which can lead to emphysema and pneumothorax - tenuous linkCreated: 8 Sep 2016, 3:29 p.m.
Can be mutated in cutis laxa (AR), which can lead to emphysema and pneumothorax - tenuous linkCreated: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cutis laxa
- OMIM
- 604633
- Clinvar variants
- Variants in EFEMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
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]