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  2. Disorders of immune dysregulation
  3. TNFRSF9
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Disorders of immune dysregulation

Gene: TNFRSF9

Green List (high evidence)
TNFRSF9 (TNF receptor superfamily member 9)
EnsemblGeneIds (GRCh38): ENSG00000049249
EnsemblGeneIds (GRCh37): ENSG00000049249
OMIM: 602250, Gene2Phenotype
TNFRSF9 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Created: 5 Apr 2020, 4:26 a.m. | Last Modified: 5 Apr 2020, 4:27 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection

Publications

Created: 5 Apr 2020, 4:26 a.m.
Last Modified: 5 Apr 2020, 4:27 a.m.
Panel version: 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 109 with lymphoproliferation, MIM# 620282
  • EBV lymphoproliferation
  • B-cell lymphoma
  • Chronic active EBV infection
OMIM
602250
Clinvar variants
Variants in TNFRSF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF9 were changed from EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection to Immunodeficiency 109 with lymphoproliferation, MIM# 620282; EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf9 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf9 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF9 was added gene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 30872117 Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection Review for gene: TNFRSF9 was set to RED