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Severe Paediatric Disorders

Gene: TNFRSF1A

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TNFRSF1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Periodic fever, familial, 142680 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Periodic fever, familial, OMIM:142680
OMIM
191190
Clinvar variants
Variants in TNFRSF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TNFRSF1A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TNFRSF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TNFRSF1A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TNFRSF1A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TNFRSF1A was added gene: TNFRSF1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TNFRSF1A was set to