Skeletal dysplasia
Gene: IL11RA
othe cranio genes listed in the nosology paper. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
Comment from Tracy Lester - IL11RA should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. Cases can have midface hypoplasia and other craniofacial signs without clinical CSS.Created: 28 Nov 2019, 11:53 a.m. | Last Modified: 28 Nov 2019, 11:53 a.m.
Panel Version: 1.250
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: At least 5 variants reported for this phenotypeCreated: 7 Jul 2016, 9:29 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 9:24 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis and dental anomalies 614188
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Craniosynostosis and dental anomalies 614188 for gene: IL11RA
Source NHS GMS was added to IL11RA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for IL11RA were set to Craniosynostosis and dental anomalies 614188
This gene has been classified as Green List (High Evidence).
Publications for IL11RA were set to 21741611
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
IL11RA was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
IL11RA was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
IL11RA was created by anabeleza