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  3. TNFRSF1A
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Vasculitis

Gene: TNFRSF1A

Green List (high evidence)
TNFRSF1A (TNF receptor superfamily member 1A)
EnsemblGeneIds (GRCh38): ENSG00000067182
EnsemblGeneIds (GRCh37): ENSG00000067182
OMIM: 191190, Gene2Phenotype
TNFRSF1A is in 4 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

7 affected families with 6 variants identified.
Created: 7 Jan 2020, 2:48 a.m. | Last Modified: 7 Jan 2020, 2:48 a.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Periodic fever, familial

Publications

Created: 7 Jan 2020, 2:48 a.m.
Last Modified: 7 Jan 2020, 2:48 a.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic fever, familial, MIM# 142680
OMIM
191190
Clinvar variants
Variants in TNFRSF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf1a has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680

7 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFRSF1A were set to

7 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF1A was added gene: TNFRSF1A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFRSF1A was set to Unknown