Clefting disorders
Gene: EFNB1

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

1 review

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, 11:56 p.m. | Last Modified: 7 Mar 2022, 11:56 p.m.

Panel Version: 0.177

Created: 7 Mar 2022, 11:56 p.m.
Last Modified: 7 Mar 2022, 11:56 p.m.
Panel version: 0.177

Details

Mode of Inheritance

Other

Sources

Expert Review Green

Phenotypes

CRANIOFRONTONASAL SYNDROME
CFNS

OMIM

300035

Clinvar variants

Variants in EFNB1

Penetrance

None

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

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFNB1 was added gene: EFNB1 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME; CFNS

Clefting disorders Gene: EFNB1