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Severe Paediatric Disorders

Gene: TNFSF12

Red List (low evidence)

TNFSF12 (TNF superfamily member 12)
EnsemblGeneIds (GRCh38): ENSG00000239697
EnsemblGeneIds (GRCh37): ENSG00000239697
OMIM: 602695, Gene2Phenotype
TNFSF12 is in 3 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: TNFSF12; Recommended initial gene rating: Red List (low evidence); Phenotypes: ?Immunodeficiency 16, 615593 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Immunodeficiency 16, 615593
OMIM
602695
Clinvar variants
Variants in TNFSF12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TNFSF12 were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12

20 Feb 2020, Gel status: 1

Set Phenotypes