Craniosynostosis

Gene: EFNB1

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Yes - well defined. Pre-screened with panel R99. Pathogenic in het state - affected females and somatic mosaic males. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

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, 304110

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EFNB1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Apr 2017, 6:19 a.m.
Comment on mode of inheritance: Please see comments from reviewer. Indicated as x-linked over-dominance in Gene2Phenotype.
Created: 24 Aug 2016, 1:21 p.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

rare example of cellular interference; heterozygous females, and mosaic males, more severely affected than hemizygous males
Created: 14 Sep 2015, 11:43 a.m.

Mode of inheritance
Other

Phenotypes
craniofrontonasal syndrome

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

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 Review Green
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • 304110
  • Craniofrontonasal syndrome 304110
Tags
x-linked-over-dominance
OMIM
300035
Clinvar variants
Variants in EFNB1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniofrontonasal syndrome 304110 for gene: EFNB1

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EFNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EFNB1 was changed to Other - please specifiy in evaluation comments

24 Aug 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for EFNB1 was changed to Other - please provide details in the comments

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for EFNB1 were set to 304110

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for EFNB1 were set to 15166289; 23335590; 15124102

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EFNB1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

EFNB1 was added to Craniosynostosis syndromespanel. Sources: Expert list