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
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 LesterCreated: 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
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 reportedCreated: 28 Jul 2016, 10:50 a.m.
Tier 2Created: 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
Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia, OMIM:304110
Tag curated_removed tag was added to gene: EFNB1.
Gene: efnb1 has been removed from the panel.
Added phenotypes Craniofrontonasal dysplasia 304110 for gene: EFNB1
Source NHS GMS was added to EFNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for EFNB1 were set to Craniofrontonasal dysplasia 304110
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)
EFNB1 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN
EFNB1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
EFNB1 was added to Unexplained skeletal dysplasiapanel. Sources:
EFNB1 was created by sleigh