Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IL11RA
Craniosynostosis major feature. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis and dental anomalies, 614188
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: IL11RA; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
delayed tooth eruption, and supernumerary teeth may accompany craniosynostosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:12 a.m.
Source NHS GMS was added to IL11RA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for IL11RA were set to 21741611; 24002815; 24498618
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IL11RA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
IL11RA was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
IL11RA was added to Craniosynostosis syndromespanel. Sources: Expert list
IL11RA was added to Craniosynostosis syndromespanel. Sources: UKGTN
IL11RA was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen