Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: IL3RA

Red List (low evidence)

IL3RA (interleukin 3 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000185291
EnsemblGeneIds (GRCh37): ENSG00000185291
OMIM: 308385, Gene2Phenotype
IL3RA is in 1 panel

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Created: 19 Nov 2019, 6:17 p.m. | Last Modified: 19 Nov 2019, 6:17 p.m.
Panel Version: 2.1102

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Should be GREY. No evidence or literature found linking variants in this gene to Intellectual Disability.
Created: 31 Oct 2017, 10:36 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
OMIM
308385
Clinvar variants
Variants in IL3RA
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: IL3RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL3RA was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IL3RA was created by ellenmcdonagh