IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red IL2RG in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, X-linked (300400) Moderate combined immunodeficiency, X-linked (312863)
Green IL2RG in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IL2RG in Mendeliome Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia
Green IL2RG in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia
Green IL2RG in Severe Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia
Green IL2RG in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, X-linked, 300400 (3)
Green IL2RG in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency, X-linked
Green IL2RG in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, X-linked, 300400 (3)
Green IL2RG in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Severe combined immunodeficiency, X-linked, MIM#312863 Tags treatable immunological
Green IL2RG in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, X-linked, MIM#300400