Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ERF
Yes - well defined. Pre-screened with panel R99. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 4, 600775
Publications
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: ERF; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ERF-related craniosynostosis ranges from Crouzon-like disorder to apparently non-syndromic single suture synostosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:10 a.m.
Source NHS GMS was added to ERF. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for ERF were set to 26097063; 23354439
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ERF was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
ERF was added to Craniosynostosis syndromespanel. Sources: Expert list
Model of inheritance for gene ERF was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ERF was added to Craniosynostosis syndromespanel. Sources: UKGTN
ERF was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen