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  3. TNFRSF4
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Combined Immunodeficiency

Gene: TNFRSF4

Red List (low evidence)
TNFRSF4 (TNF receptor superfamily member 4)
EnsemblGeneIds (GRCh38): ENSG00000186827
EnsemblGeneIds (GRCh37): ENSG00000186827
OMIM: 600315, Gene2Phenotype
TNFRSF4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report in an individual with childhood-onset Kaposi's sarcoma, homozygous missense variant, plausible biological candidate but direct evidence of causality limited.
Created: 12 Apr 2020, 3:13 a.m. | Last Modified: 12 Apr 2020, 3:13 a.m.
Panel Version: 0.144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 16, MIM# 615593

Publications

Created: 12 Apr 2020, 3:13 a.m.
Last Modified: 12 Apr 2020, 3:13 a.m.
Panel version: 0.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 16, MIM# 615593
OMIM
600315
Clinvar variants
Variants in TNFRSF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf4 has been classified as Red List (Low Evidence).

12 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593

12 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFRSF4 were set to

12 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF4 was added gene: TNFRSF4 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFRSF4 was set to Unknown