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Skeletal dysplasia

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 18 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteopetrosis and related disorders SD gp - at least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IKBKG; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: All the phenotypes associated with this gene have X-LINKED: hemizygous mutation in males, biallelic mutations in females, EXCEPT for Incontinentia pigmenti 308300, which is X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) according to Gen2Phen
Created: 10 Apr 2017, 3:14 p.m.
Comment on mode of inheritance: Unknown for inheritance for Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 and Incontinentia pigmenti 308300
Created: 1 Aug 2016, 10:53 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in Incontinentia pigmenti 308300 and at least one in Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Created: 29 Jul 2016, 9:48 a.m.
Comment on phenotypes: Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291, Immunodeficiency 33 300636, Immunodeficiency, isolated 300584 and Invasive pneumococcal disease, recurrent isolated, 2 300640
Created: 29 Jul 2016, 9:42 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Immunodeficiency 33 300636; Immunodeficiency, isolated 300584; Incontinentia pigmenti 308300 XLD

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Incontinentia pigmenti 308300
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
OMIM
300248
Clinvar variants
Variants in IKBKG
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Incontinentia pigmenti 308300; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 for gene: IKBKG

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IKBKG. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 Apr 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IKBKG was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IKBKG was changed to Unknown

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300

29 Jul 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Incontinentia pigmenti 308300 XLD

29 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

IKBKG was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN

29 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKG were set to Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Immunodeficiency 33 300636; Immunodeficiency, isolated 300584; Incontinentia pigmenti 308300 XLD

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

IKBKG was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IKBKG was created by sleigh