Craniosynostosis
Gene: IL11RA

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, 9:03 a.m. | Last Modified: 7 Oct 2020, 9:03 a.m.

Panel Version: 0.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and dental anomalies, MIM# 614188

Publications

Created: 7 Oct 2020, 9:03 a.m.
Last Modified: 7 Oct 2020, 9:03 a.m.
Panel version: 0.168

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniosynostosis and dental anomalies, MIM# 614188

OMIM

600939

Clinvar variants

Variants in IL11RA

Penetrance

None

Publications

Panels with this gene