Congenital diaphragmatic hernia
Gene: EFEMP2EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.
Diaphragmatic hypoplasia and hernia are features in 25-90%.
Sources: Expert listCreated: 14 Nov 2020, 6:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB, MIM# 614437
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: efemp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: efemp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EFEMP2 was added gene: EFEMP2 was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 30140196; 21563328 Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, MIM# 614437 Review for gene: EFEMP2 was set to GREEN