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Research panel - Severe Paediatric Disorders

Gene: IRF8

Green List (high evidence)
IRF8 (interferon regulatory factor 8)
EnsemblGeneIds (GRCh38): ENSG00000140968
EnsemblGeneIds (GRCh37): ENSG00000140968
OMIM: 601565, Gene2Phenotype
IRF8 is in 2 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: IRF8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3) | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
OMIM
601565
Clinvar variants
Variants in IRF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene IRF8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene IRF8 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 for gene: IRF8

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to IRF8.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to IRF8. 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: IRF8 was added gene: IRF8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: IRF8 was set to