Disorders of immune dysregulation

Gene: IL10RA

Green List (high evidence)

IL10RA (interleukin 10 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 families reported.
Created: 17 Mar 2022, 8:44 p.m. | Last Modified: 17 Mar 2022, 8:44 p.m.
Panel Version: 0.11523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
146933
Clinvar variants
Variants in IL10RA
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL10RA was added gene: IL10RA was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL10RA was set to Unknown