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Intellectual disability syndromic and non-syndromic

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 24 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

ID/DD has been reported in some individuals however it is rare in most cases of IP.
Created: 26 Sep 2024, 6:37 a.m. | Last Modified: 26 Sep 2024, 6:37 a.m.
Panel Version: 0.6249

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Incontinentia pigmenti MONDO:0010631

Publications

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti MONDO:0010631

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IKBKG were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IKBKG was added gene: IKBKG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IKBKG was set to Unknown