IL7R

interleukin 7 receptor
OMIM: 146661, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IL7R in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
  • Nl NK
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • IL7Ra deficiency
Green IL7R in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
  • T-B+ SCID
  • IL7Ra deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK
  • Immunodeficiencies affecting cellular and humoral immunity
Green IL7R in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971