Interstitial Lung Disease
Gene: EFEMP2

EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 11 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Associated with neonatal/infant acute respiratory distress syndrome secondary to pulmonary hypoplasia, hypoplastic diaphragm and diffuse lung disease.
Over 20 unrelated families reported in the literature.
Created: 6 Nov 2021, 2:42 a.m. | Last Modified: 6 Nov 2021, 2:42 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 614437 - Autosomal recessive cutis laxa type 1B (ARCL1B)

Publications

Created: 6 Nov 2021, 2:42 a.m.
Last Modified: 6 Nov 2021, 2:42 a.m.
Panel version: 0.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437

OMIM

604633

Clinvar variants

Variants in EFEMP2

Penetrance

None

Publications

Panels with this gene