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DDG2P

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Autosomal Recessive Craniosynostosis.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:50 p.m.
Multiple ratings in DD-G2P download: Rated confirmed for Autosomal Recessive Craniosynostosis and rated probable for Crouzon-like craniosynostosis.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Autosomal Recessive Craniosynostosis
  • Crouzon-like craniosynostosis
Tags
watchlist
OMIM
600939
Clinvar variants
Variants in IL11RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple ratings in DD-G2P dow

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: IL11RA.

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: IL11RA was added gene: IL11RA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11RA were set to 24498618 Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis