Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: EFNB1
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 WilkieCreated: 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
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: greenCreated: 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.
rare example of cellular interference; heterozygous females, and mosaic males, more severely affected than hemizygous malesCreated: 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
Phenotypes for gene: EFNB1 were changed from 304110; Craniofrontonasal syndrome 304110 to Craniofrontonasal dysplasia, OMIM:304110
Added phenotypes Craniofrontonasal syndrome 304110 for gene: EFNB1
Source NHS GMS was added to EFNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Mode of inheritance for EFNB1 was changed to Other - please specifiy in evaluation comments
Mode of pathogenicity for EFNB1 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Phenotypes for EFNB1 were set to 304110
Publications for EFNB1 were set to 15166289; 23335590; 15124102
This gene has been classified as Green List (High Evidence).
EFNB1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
EFNB1 was added to Craniosynostosis syndromespanel. Sources: Expert list