Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: EFNB1

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

• 15166289
• 23335590
• 15124102

Mode of pathogenicity
Other - please provide details in the comments

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

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.

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.

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

• 15166289
• 23335590
• 15124102

Mode of pathogenicity
Other

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