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  2. Monogenic Diabetes
  3. IL2RA
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Monogenic Diabetes

Gene: IL2RA

Green List (high evidence)
IL2RA (interleukin 2 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 6 panels

1 review

Hali Van Niel (University of Melbourne)

I don't know

IL2RA (also known as CD25) gene disease association with Immunodeficiency 41 with lymphoproliferation and autoimmunity
15776395: Has been reported association with susceptibility to type 1 diabetes mellitus, possibly LD with causal variants
17196245: One patient with AR variants in IL2RA with type 1 diabetes at 6 weeks of age
Genomics england have reported 2 neonatal clinical cases detected
Created: 21 May 2024, 5:44 a.m. | Last Modified: 21 May 2024, 5:44 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
immunodeficiency due to CD25 deficiency MONDO:0011664; neonatal diabetes mellitus MONDO:0016391

Publications

Created: 21 May 2024, 5:44 a.m.
Last Modified: 21 May 2024, 5:44 a.m.
Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
  • insulin-dependent diabetes mellitus at 8-weeks
  • IPEX-like syndrome
  • neonatal diabetes
OMIM
147730
Clinvar variants
Variants in IL2RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL2RA was added gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RA were set to 17196245 Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes