Cutis Laxa
Gene: EFEMP2
EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 11 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with cutis laxa in at least 6 unrelated individuals (PMID: 20389311; 19664000; 16685658; 17937443).
PMID: 22943132 reports 22 homozygous or compound het infants with: cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), hypertelorism (57%), prominent eyes (43%), sagging cheeks (43%), long slender digits (48%), and visible arterial pulsations (38%).
Has also been associated with aortic dissection without presentation of cutis laxa (PMID: 22440127 - reports 9 affected individuals).
Sources: LiteratureCreated: 1 Jul 2020, 6:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB MIM# 614437
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- GeneReviews
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IB MIM#614437
- OMIM
- 604633
- Clinvar variants
- Variants in EFEMP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cutis Laxa
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Congenital diaphragmatic hernia
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Interstitial Lung Disease
History Filter Activity
15 Oct 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: efemp2 has been classified as Green List (High Evidence).
15 Oct 2022, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EFEMP2 were set to
10 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EFEMP2 was added gene: EFEMP2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM#614437