Congenital diaphragmatic hernia
Gene: EFNB1

EFNB1 (ephrin B1)
EnsemblGeneIds (GRCh38): ENSG00000090776
EnsemblGeneIds (GRCh37): ENSG00000090776
OMIM: 300035, Gene2Phenotype
EFNB1 is in 11 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males
Created: 7 Mar 2022, 11:55 p.m. | Last Modified: 7 Mar 2022, 11:55 p.m.

Panel Version: 1.6

Created: 7 Mar 2022, 11:55 p.m.
Last Modified: 7 Mar 2022, 11:55 p.m.
Panel version: 1.6

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typically XLD disorder. Reports of SVs and CNVs in association with CDH.
Created: 20 Jun 2021, 9 a.m. | Last Modified: 20 Jun 2021, 9 a.m.

Panel Version: 0.41

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia

Publications

Created: 20 Jun 2021, 9 a.m.
Last Modified: 20 Jun 2021, 9 a.m.
Panel version: 0.41

Details

Mode of Inheritance

Other

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniofrontonasal dysplasia, MIM# 304110
Diaphragmatic hernia

OMIM

300035

Clinvar variants

Variants in EFNB1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Mar 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other

20 Jun 2021, Gel status: 3