IL7R

interleukin 7 receptor
OMIM: 146661, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green IL7R in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971 fever rash failure to thrive recurrent respiratory and gastric infections diarrhoea lymphadenopathy pneumonitis Pancytopaenia low T-cell numbers decreased immunoglobulins normal-high B/NK-cell numbers.
Green IL7R in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971 fever rash failure to thrive recurrent respiratory and gastric infections diarrhoea lymphadenopathy pneumonitis Pancytopaenia low T-cell numbers decreased immunoglobulins normal-high B/NK-cell numbers.
Green IL7R in Severe Combined Immunodeficiency (absent T present B cells) Level 2: Immunological disorders Version 1.6 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971 low T-cell numbers normal-high B and NK-cell numbers fever rash failure to thrive recurrent respiratory and gastric infections Hepatomegaly Splenomegaly diarrhoea lymphadenopathy pneumonitis Pancytopaenia decreased immunoglobulins
Green IL7R in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Green IL7R in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Green IL7R in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Green IL7R in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Expert list Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Tags treatable immunological
Green IL7R in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)