SCID
Gene: IL7R

IL7R (interleukin 7 receptor)
EnsemblGeneIds (GRCh38): ENSG00000168685
EnsemblGeneIds (GRCh37): ENSG00000168685
OMIM: 146661, Gene2Phenotype
IL7R is in 2 panels

6 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:05 p.m.

Created: 20 May 2016, 2:05 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Severe Combined Immune Deficiency
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
T-B+ SCID

OMIM

146661

Clinvar variants

Variants in IL7R

Penetrance

Complete

Panels with this gene