Craniosynostosis

Gene: IL11RA

Green List (high evidence)

IL11RA (interleukin 11 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000137070
EnsemblGeneIds (GRCh37): ENSG00000137070
OMIM: 600939, Gene2Phenotype
IL11RA is in 5 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Craniosynostosis major feature. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

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

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 10:12 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis and dental anomalies, 614188
  • Craniosynostosis And Dental Anomalies
OMIM
600939
Clinvar variants
Variants in IL11RA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IL11RA. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for IL11RA were set to 21741611; 24002815; 24498618

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for IL11RA was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IL11RA was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

IL11RA was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

IL11RA was added to Craniosynostosis syndromespanel. Sources: UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

IL11RA was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen