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  2. Common craniosynostosis syndromes
  3. EFNB1
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Common craniosynostosis syndromes

Gene: EFNB1

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference
Created: 6 May 2019, 10:51 a.m.
This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: EFNB1.
Created: 2 Apr 2019, 4:05 p.m.
Created: 2 Apr 2019, 4:05 p.m.

Panel version: 0.3

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
  • NHS GMS
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniofrontonasal dysplasia OMIM:304110
OMIM
300035
Clinvar variants
Variants in EFNB1
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110

6 May 2019, Gel status: 4

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: EFNB1 was changed from to Other

2 Apr 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: EFNB1 was added gene: EFNB1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS 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 dysplasia 304110