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BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Congenital onset.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T/B/NK cell counts
Created: 8 Dec 2022, 7:07 a.m. | Last Modified: 8 Dec 2022, 7:07 a.m.
Panel Version: 0.1250

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
  • BeginNGS
  • Expert list
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Tags
treatable immunological
OMIM
146661
Clinvar variants
Variants in IL7R
Penetrance
None
Panels with this gene

History Filter Activity

8 Dec 2022, 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).

8 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: IL7R. Tag immunological tag was added to gene: IL7R.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL7R was added gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green 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