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Newborns main panel

Gene: TNFRSF1A

Amber List (moderate evidence)
TNFRSF1A (TNF receptor superfamily member 1A)
EnsemblGeneIds (GRCh38): ENSG00000067182
EnsemblGeneIds (GRCh37): ENSG00000067182
OMIM: 191190, Gene2Phenotype
TNFRSF1A is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:14 a.m. | Last Modified: 26 Jun 2024, 9:14 a.m.
Panel Version: 0.469
Created: 26 Jun 2024, 9:14 a.m.
Last Modified: 26 Jun 2024, 9:14 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

Most pathogenic variants in TNFRSF1A are missense variants affecting the cysteine residues. No P/LP truncating variants in ClinVar. So no LOF prioritisation algorithm.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:49 a.m.
Panel Version: 0.147
https://www.ncbi.nlm.nih.gov/books/NBK586171/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:49 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Tumor necrosis factor receptor associated periodic fever syndrome
Tags
internal_inclusion_list_only
OMIM
191190
Clinvar variants
Variants in TNFRSF1A
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tnfrsf1a has been classified as Amber List (Moderate Evidence).

7 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: TNFRSF1A.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: TNFRSF1A were changed from Tumor necrosis factor receptor associated periodic fever syndrome; Tumor necrosis factor receptor associated periodic syndrome to Tumor necrosis factor receptor associated periodic fever syndrome

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tumor necrosis factor receptor associated periodic fever syndrome for gene: TNFRSF1A

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: TNFRSF1A was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: TNFRSF1A was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFRSF1A. Mode of pathogenicity for gene TNFRSF1A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Tumor necrosis factor receptor associated periodic syndrome for gene: TNFRSF1A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TNFRSF1A. Added phenotypes Tumor necrosis factor receptor associated periodic syndrome for gene: TNFRSF1A Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFRSF1A. Added phenotypes Tumor necrosis factor receptor associated periodic syndrome for gene: TNFRSF1A Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TNFRSF1A was added gene: TNFRSF1A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown