Clefting
Gene: EFNB1

EFNB1 (ephrin B1)
EnsemblGeneIds (GRCh38): ENSG00000090776
EnsemblGeneIds (GRCh37): ENSG00000090776
OMIM: 300035, Gene2Phenotype
EFNB1 is in 8 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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 SYNDROME; CFNS

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

Details

Mode of Inheritance

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

Sources

Expert Review Green

Phenotypes

Craniofrontonasal dysplasia, OMIM:304110

OMIM

300035

Clinvar variants

Variants in EFNB1

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME; CFNS to Craniofrontonasal dysplasia, OMIM:304110

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EFNB1 was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created