Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 7 Oct 2020, 9:06 a.m. | Last Modified: 7 Oct 2020, 9:06 a.m.
Panel Version: 0.4826

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and dental anomalies, MIM# 614188

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis and dental anomalies 614188
OMIM
600939
Clinvar variants
Variants in IL11RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL11RA was added gene: IL11RA was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11RA were set to 21741611 Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies 614188