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  3. IKBKG
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Structural eye disease

Gene: IKBKG

Red List (low 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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Scheuerle reported 4 cases with microphthalmia and Incontinentia Pigmenti but did not perform any sequencing of IKBKG. Minic also reported an IP case with microphthalmia but did not perform any sequencing.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

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

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Incontinentia pigmenti, IP

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

History Filter Activity

2 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, IP, 308300 to Incontinentia pigmenti, OMIM:308300

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IKBKG. Source Expert Review Red was added to IKBKG. Publications for gene IKBKG were changed from to 31119873; 20499493; 30905793 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to IKBKG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: IKBKG was added gene: IKBKG was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, IP, 308300