Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings_Paediatric

Gene: IL7R

Green List (high evidence)

IL7R (interleukin 7 receptor)
EnsemblGeneIds (GRCh38): ENSG00000168685
EnsemblGeneIds (GRCh37): ENSG00000168685
OMIM: 146661, Gene2Phenotype
IL7R is in 8 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS.
Sources: Expert list
Created: 5 Oct 2020, 4:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971

Details

Mode of Inheritance
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
OMIM
146661
Clinvar variants
Variants in IL7R
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il7r has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il7r has been classified as Green List (High Evidence).

5 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: IL7R was added gene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Review for gene: IL7R was set to GREEN