Craniosynostosis
Gene: EFNB1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism. Well established gene-disease association, over 50 unrelated individuals reported.
Created: 7 Oct 2020, 3:32 a.m. | Last Modified: 7 Oct 2020, 3:32 a.m.

Panel Version: 0.150

Mode of inheritance
Other

Phenotypes
Craniofrontonasal dysplasia, MIM# 304110

Publications

Created: 7 Oct 2020, 3:32 a.m.
Last Modified: 7 Oct 2020, 3:32 a.m.
Panel version: 0.150

Details

Mode of Inheritance

Other

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniofrontonasal dysplasia, MIM# 304110

OMIM

300035

Clinvar variants

Variants in EFNB1

Penetrance

None

Publications

Panels with this gene