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Severe Paediatric Disorders

Gene: UNC93B1

Green List (high evidence)

UNC93B1 (unc-93 homolog B1, TLR signaling regulator)
EnsemblGeneIds (GRCh38): ENSG00000110057
EnsemblGeneIds (GRCh37): ENSG00000110057
OMIM: 608204, Gene2Phenotype
UNC93B1 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: UNC93B1; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3); Mode of inheritance: ND
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551
OMIM
608204
Clinvar variants
Variants in UNC93B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UNC93B1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}