Skeletal dysplasia

Gene: EFNB1

?remove from SD panel, as already on craniosynostosis panel. Predominantly craniosynostosis phenotype.

Created: 6 Sep 2019, 3:28 p.m. | Last Modified: 6 Sep 2019, 3:28 p.m.

Panel Version: 1.193

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD. Several cases reported - unusual X-linked inheritance pattern. Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males is generally not pathogenic, monoallelic mutations in females may cause disease, as do mosaic mutations in males

Phenotypes
Craniofrontonasal dysplasia 304110

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

I don't know

Comment on list classification: Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that it is a predominantly craniosynostosis phenotype. It is green on the Craniosynostosis panel.

Created: 28 Nov 2019, 11:45 a.m. | Last Modified: 28 Nov 2019, 11:45 a.m.

Panel Version: 1.249

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; Initial rating suggestion: green - if CSS included with SD.

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported

Created: 28 Jul 2016, 10:50 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:03 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 dysplasia 304110

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