Skeletal dysplasia

Gene: IL11RA

Green List (high evidence)

othe cranio genes listed in the nosology paper. Several cases; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and dental anomalies 614188

Publications

• 21741611

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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: green

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: At least 5 variants reported for this phenotype

Created: 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.

Green List (high evidence)

Tier 2

Created: 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