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Fetal anomalies

Gene: IL11RA

Green List (high evidence)

IL11RA (interleukin 11 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000137070
EnsemblGeneIds (GRCh37): ENSG00000137070
OMIM: 600939, Gene2Phenotype
IL11RA is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association with over 20 families reported with bi-allelic variants and craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some individuals also display minor digit anomalies, such as syndactyly and/or clinodactyly
Created: 15 Nov 2021, 2:32 a.m. | Last Modified: 15 Nov 2021, 2:32 a.m.
Panel Version: 0.448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and dental anomalies, MIM# 614188

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Craniosynostosis and dental anomalies, MIM# 614188
OMIM
600939
Clinvar variants
Variants in IL11RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: il11ra has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: IL11RA were changed from Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188 to Craniosynostosis and dental anomalies, MIM# 614188

15 Nov 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: IL11RA were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL11RA was added gene: IL11RA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188