SCID
Gene: IL2RG
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SCID
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:46 a.m.
Comment on mode of inheritance: OMIM does indicate that it is X-linked recessive (biallelic in females), however two reviewers have indicated that monoallelic mutations in females can cause the disorder, and as this is the default X-linked setting this will be retained.Created: 20 May 2016, 2:05 p.m.
Comment on list classification: 5 reviewers agree.Created: 20 May 2016, 2:03 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for IL2RG were set to Severe combined immunodeficiency, X-linked, 300400; Severe Combined Immune Deficiency; T-B+ SCID; SCID
Mode of inheritance for IL2RG was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene IL2RG was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
IL2RG was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene IL2RG was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
IL2RG was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene IL2RG was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
IL2RG was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
IL2RG was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory