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Research panel - Severe Paediatric Disorders

Gene: IKBKG

Green List (high evidence)
IKBKG (inhibitor of nuclear factor kappa B kinase subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000269335
EnsemblGeneIds (GRCh37): ENSG00000073009
OMIM: 300248, Gene2Phenotype
IKBKG is in 19 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: IKBKG; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ectodermal dysplasia and immunodeficiency 1, 300291 (3) | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) | Immunodeficiency 33, 300636 (3) | Immunodeficiency, isolated, 300584 (3) | Incontinentia pigmenti, 308300 (3) | Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3); Mode of inheritance: ND | ND | X-linked recessive | ND | X-linked dominant | ND
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Invasive pneumococcal disease, recurrent isolated, 2, 300640
  • Incontinentia pigmenti, 308300
  • Immunodeficiency 33, 300636
  • Ectodermal dysplasia and immunodeficiency 1, 300291
  • Immunodeficiency, isolated, 300584
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
OMIM
300248
Clinvar variants
Variants in IKBKG
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 IKBKG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene IKBKG were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Incontinentia pigmenti, 308300; Immunodeficiency, isolated, 300584; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency 33, 300636; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Invasive pneumococcal disease, recurrent isolated, 2, 300640 for gene: IKBKG

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to IKBKG.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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