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Intellectual disability

Gene: IRAK1

Red List (low evidence)

IRAK1 (interleukin 1 receptor associated kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000184216
EnsemblGeneIds (GRCh37): ENSG00000184216
OMIM: 300283, Gene2Phenotype
IRAK1 is in 4 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Although large deletions encompassing this gene and many others,most notably MECP2, do appear to be linked to intellectual disability, there is no evidence directly linking variants in this gene with Intellectual disability, only immunodeficiency.
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
Unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Lubs X-Linked Mental Retardation Syndrome
  • MRXSL
OMIM
300283
Clinvar variants
Variants in IRAK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

29 Nov 2017, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene IRAK1 was set to Unknown Publications for gene IRAK1 was set to ['21934280', ' 26672597', ' 20236124', '27180140', ' 28302064 ']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IRAK1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IRAK1 was added to Intellectual disabilitypanel. Sources: UKGTN