Periodic fever syndromes
Gene: TNFRSF1AEnsemblGeneIds (GRCh38): ENSG00000067182
EnsemblGeneIds (GRCh37): ENSG00000067182
OMIM: 191190, Gene2Phenotype
TNFRSF1A is in 5 panels
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: Royal Free Periodic Fever service reports reduced penetranceCreated: 2 Feb 2017, 10:38 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: 1 External green review. Plus >3 unrelated cases in OMIM for TNFRSF1A variants causing periodic fever (OMIM:142680). Plus recommended for prior genetic testing.Created: 12 Jan 2017, 11:48 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 12 Jan 2017, 11:43 a.m.
Tracy Briggs (Manchester Genomic Medicine Centre)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Phenotypes
-
- Periodic fever, familial, OMIM:142680
- OMIM
- 191190
- Clinvar variants
- Variants in TNFRSF1A
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TNFRSF1A were changed from Hereditary Periodic Fever Syndromes; Periodic fever, familial, 142680 to Periodic fever, familial, OMIM:142680
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for TNFRSF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene TNFRSF1A were set to Hereditary Periodic Fever Syndromes; Periodic fever, familial, 142680
Added New Source
Ellen McDonagh (Genomics England Curator)TNFRSF1A was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TNFRSF1A was changed to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TNFRSF1A was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory,Eligibility Statements for GeL
Added New Source
Ellen McDonagh (Genomics England Curator)TNFRSF1A was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory,Eligibility Statements for GeL