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Retinal 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

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Comment on mode of inheritance: IKBKG is associated with IP as commented by Robert Henderson GOSH. IP is XLD in OMIM
Created: 8 Oct 2019, 9:22 a.m. | Last Modified: 8 Oct 2019, 9:22 a.m.
Panel Version: 1.199
Comment on phenotypes: IKBKG is associated with IP as commented by Robert Henderson GOSH
Created: 8 Oct 2019, 9:21 a.m. | Last Modified: 8 Oct 2019, 9:21 a.m.
Panel Version: 1.198
IKBKG rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Created: 7 Oct 2019, 4:26 p.m. | Last Modified: 7 Oct 2019, 4:26 p.m.
Panel Version: 1.194

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
Incontinentia pigmenti, 308300

Robert Henderson (Great Ormond Street Hospital)

Green List (high evidence)

History Filter Activity

8 Oct 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

8 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

7 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

7 Oct 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

7 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ikbkg has been classified as Green List (High Evidence).

30 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: IKBKG was added gene: IKBKG was added to Retinal disorders. Sources: NHS GMS Mode of inheritance for gene: IKBKG was set to